tag:theconversation.com,2011:/id/topics/direct-to-consumer-dna-testing-53468/articlesDirect-to-consumer DNA testing – The Conversation2024-01-21T19:03:02Ztag:theconversation.com,2011:article/2198052024-01-21T19:03:02Z2024-01-21T19:03:02ZYou can now order all kinds of medical tests online. Our research shows this is (mostly) a bad idea<figure><img src="https://images.theconversation.com/files/567201/original/file-20231222-29-vgmho9.jpg?ixlib=rb-1.1.0&rect=8%2C16%2C5509%2C3656&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/freelancer-businesswoman-working-home-boston-terrier-2140622815">Elena.Katkova/Shutterstock</a></span></figcaption></figure><p>Many of us have done countless rapid antigen tests (RATs) over the course of the pandemic. Testing ourselves at home has become second nature. </p>
<p>But there’s also a growing worldwide market in medical tests sold online directly to the public. These are “direct-to-consumer” tests, and you can access them without seeing a doctor.</p>
<p>While this might sound convenient, the benefits to most consumers are questionable, as we discovered in <a href="https://bmjopen.bmj.com/content/13/12/e074205.abstract">a recent study</a>.</p>
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Read more:
<a href="https://theconversation.com/five-warning-signs-of-overdiagnosis-110895">Five warning signs of overdiagnosis</a>
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<h2>What are direct-to-consumer tests?</h2>
<p>Let’s start with what they’re not. We’re not talking about patients who are diagnosed with a condition, and use tests to monitor themselves (for example, finger-prick testing to monitor blood sugar levels for people with diabetes). </p>
<p>We’re also not talking about home testing kits used for population screening, such as RATs for COVID, or the “poo tests” sent to people aged 50 and over for <a href="https://www.health.gov.au/our-work/national-bowel-cancer-screening-program">bowel cancer screening</a>.</p>
<p>Direct-to-consumer tests are products marketed to anyone who is willing to pay, without going through their GP. They can include hormone profiling tests, tests for thyroid disease and food sensitivity tests, among many others.</p>
<p>Some direct-to-consumer tests allow you to complete the test at home, while self-collected lab tests give you the equipment to collect a sample, which you then send to a lab. You can now also buy pathology requests for a lab directly from a company without seeing a doctor.</p>
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<img alt="Hands preparing a RAT." src="https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/567203/original/file-20231222-25-cdexst.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">We’ve all become accustomed to RATs during the pandemic.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/medicine-quarantine-pandemic-concept-close-woman-2108987891">Ground Picture/Shutterstock</a></span>
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<h2>What we did in our study</h2>
<p>We searched (via Google) for direct-to-consumer products advertised for sale online in Australia between June and December 2021. We then assessed whether each test was likely to provide benefits to those who use them based on scientific literature published about the tests, and any recommendations either for or against their use from professional medical organisations. </p>
<p>We identified 103 types of tests and 484 individual products ranging in price from A$12.99 to A$1,947.</p>
<p>We concluded only 11% of these tests were likely to benefit most consumers. These included tests for STIs, where social stigma can sometimes discourage people from testing at a clinic.</p>
<p>A further 31% could possibly benefit a person, if they were at higher risk. For example, if a person had symptoms of thyroid disease, a test may benefit them. But the <a href="https://www.choosingwisely.org.au/recommendations/racgp10">Royal Australian College of General Practitioners</a> does not recommend testing for thyroid disease in people without symptoms because evidence showing benefits of identifying and treating people with early thyroid disease is lacking.</p>
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<em>
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Read more:
<a href="https://theconversation.com/cervical-breast-heart-bowel-heres-what-women-should-be-getting-screened-regularly-148575">Cervical, breast, heart, bowel: here’s what women should be getting screened regularly</a>
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<p>Some 42% were commercial “health checks” such as hormone and nutritional status tests. Although these are legitimate tests – they may be ordered by a doctor in certain circumstances, or be used in research – they have <a href="https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD009009.pub2/full">limited usefulness</a> for consumers. </p>
<p>A test of your <a href="https://www2.gov.bc.ca/gov/content/health/practitioner-professional-resources/bc-guidelines/special-endocrine-testing">hormone</a> or vitamin levels at a particular time can’t do much to help you improve your health, especially because test results change depending on the time of day, month or season you test.</p>
<p>Most worryingly, 17% of the tests were outright “quackery” that wouldn’t be recommended by any mainstream health practitioner. For example, hair analysis for assessing food allergies <a href="https://www.allergy.org.au/patients/allergy-testing/allergy-testing">is unproven</a> and can lead to misdiagnosis and ineffective treatments.</p>
<p>More than half of the tests we looked at didn’t state they offered a pre- or post-test consultation.</p>
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<img alt="A woman opening a box, which sits on her lap." src="https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/567206/original/file-20231222-19-4etac8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Ordering medical tests online probably isn’t a good idea.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/close-view-on-woman-lap-small-1569482893">fizkes/Shutterstock</a></span>
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<p>Products available may change outside the time frame of our study, and direct-to-consumer tests not promoted or directly purchasable online, such as those offered in pharmacies or by commercial health clinics, were not included.</p>
<p>But in Australia, ours is the first and only study we know of mapping the scale and variety of direct-to-consumer tests sold online.</p>
<p>Research <a href="https://journals.sagepub.com/doi/full/10.1258/jms.2012.012025">from other countries</a> has <a href="https://academic.oup.com/ced/article-abstract/47/3/547/6693196">similarly found</a> a lack of evidence to support the majority of direct-to-consumer tests. </p>
<h2>4 questions to ask before you buy a test online</h2>
<p>Many direct-to-consumer tests offer limited benefits, and could even lead to harms. Here are four questions you should ask yourself if you’re considering buying a medical test online.</p>
<p><strong>1. If I do this test, could I end up with extra medical appointments or treatments I don’t need?</strong></p>
<p>Doing a test yourself might seem harmless (it’s just information, after all), but unnecessary tests often find issues that would never have caused you problems.</p>
<p>For example, someone taking a diabetes test may find moderately high blood sugar levels see them labelled as “pre-diabetic”. However, this diagnosis <a href="https://www.theguardian.com/society/2019/mar/07/pre-diabetes-makes-patients-out-of-healthy-people-say-critics">has been controversial</a>, regarded by many as making patients out of healthy people, a large number of whom won’t go on to develop diabetes.</p>
<p><strong>2. Would my GP recommend this test?</strong></p>
<p>If you have worrying symptoms or risk factors, your GP can recommend the best tests for you. Tests your GP orders are more likely to be covered by Medicare, so will cost you a lot less than a direct-to-consumer test. </p>
<p><strong>3. Is this a good quality test?</strong></p>
<p>A good quality home self-testing kit should indicate high sensitivity (the proportion of true cases that will be accurately detected) and high specificity (the proportion of people who don’t have the disease who will be accurately ruled out). These figures should ideally be in the high 90s, and clearly printed on the product packaging.</p>
<p>For tests analysed in a lab, check if the lab is accredited by the <a href="https://nata.com.au/about-us/">National Association of Testing Authorities</a>. Avoid tests sent to overseas labs, where Australian regulators can’t control the quality, or the protection of your sample or personal health information.</p>
<p><strong>4. Do I really need this test?</strong></p>
<p>There are lots of reasons to want information from a test, like peace of mind, or just curiosity. But unless you have clear symptoms and risk factors, you’re probably testing yourself unnecessarily and wasting your money. </p>
<p>Direct-to-consumer tests might seem like a good idea, but in most cases, you’d be better off letting sleeping dogs lie if you feel well, or going to your GP if you have concerns.</p><img src="https://counter.theconversation.com/content/219805/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Patti Shih receives funding from NHMRC. She is affiliated with Wiser Healthcare, an NHMRC Centre for Research Excellence for reducing medical overuse and increasing the sustainability and equity of healthcare.</span></em></p><p class="fine-print"><em><span>Fiona Stanaway receives funding from the MRFF.</span></em></p><p class="fine-print"><em><span>Katy Bell receives funding from NHMRC and MRFF. She is affiliated with Wiser Healthcare, an NHMRC Centre for Research Excellence for reducing medical overuse and increasing the sustainability and equity of healthcare.</span></em></p><p class="fine-print"><em><span>Stacy Carter receives funding from organisations including NHMRC, ARC, MRFF and NBCF. She is affiliated with Wiser Healthcare, an NHMRC Centre for Research Excellence for reducing medical overuse and increasing the sustainability and equity of healthcare. </span></em></p>Direct-to-consumer tests are products marketed to any consumer who is willing to pay, without going through their GP. But some could do more harm than good.Patti Shih, Senior Lecturer, Australian Centre for Health Engagement, Evidence and Values, University of WollongongFiona Stanaway, Associate Professor in Clinical Epidemiology, University of SydneyKaty Bell, Associate Professor in Clinical Epidemiology, Sydney School of Public Health, University of SydneyStacy Carter, Professor and Director, Australian Centre for Health Engagement, Evidence and Values, University of WollongongLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/2093122023-09-15T12:31:41Z2023-09-15T12:31:41ZCan at-home DNA tests predict how you’ll respond to your medications? Pharmacists explain the risks and benefits of pharmacogenetic testing<figure><img src="https://images.theconversation.com/files/545852/original/file-20230831-15-xftd5k.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2070%2C1449&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Pharmacogenetic testing is a form of precision medicine, using your genes to personalize your care.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/medicine-concept-royalty-free-image/815702424">D3Damon/E+ via Getty Images</a></span></figcaption></figure><p>Have you ever wondered why certain medications <a href="https://theconversation.com/why-prescription-drugs-can-work-differently-for-different-people-168645">don’t seem to work as well</a> for you as they do for others? This variability in drug response is what pharmacogenomic testing hopes to explain by looking at the genes within your DNA. </p>
<p><a href="https://www.cdc.gov/genomics/disease/pharma.htm">Pharmacogenomics, or PGx</a>, is the study of how genes affect your response to medications. <a href="https://www.genome.gov/genetics-glossary/Gene">Genes are segments of DNA</a> that serve as an instruction manual for cells to make proteins. Some of these proteins break down or transport certain medications through the body. Others are proteins that medications target to generate a desired effect.</p>
<p><a href="https://www.pharmacy.pitt.edu/people/kayla-rowe">As pharmacists</a> <a href="https://scholar.google.com/citations?user=9Np7_DYAAAAJ&hl=en">who see</a> <a href="https://scholar.google.com/citations?user=LKG31OkAAAAJ&hl=en">patients who</a> have stopped multiple medications because of side effects or ineffectiveness, we believe pharmacogenomic testing has the potential to help guide health care professionals to more precise dosing and prescribing.</p>
<h2>How do PGx tests work?</h2>
<p><a href="https://medlineplus.gov/lab-tests/pharmacogenetic-tests/">PGx tests</a> look for variations within the genes of your DNA to predict drug response. For instance, the presence of one genetic variant might predict that the specific protein it codes for is unable to break down a particular medication. This could potentially lead to increased drug levels in your body and an increased risk of side effects. The presence of another genetic variant might predict the opposite: It might predict that the protein it codes for is breaking down a medication more rapidly than expected, which may decrease the drug’s effectiveness.</p>
<p>For example, <a href="https://doi.org/10.1002/cpt.2903">citalopram is an antidepressant</a> broken down by a protein called CYP2C19. Patients with genetic variants that code for a version of this protein with a reduced ability to break down the drug may have an increased risk of side effects.</p>
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<iframe width="440" height="260" src="https://www.youtube.com/embed/dGMIyzCRl-A?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">PGx is a form of personalized or precision medicine.</span></figcaption>
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<p>Currently, there are over 80 medications with <a href="https://cpicpgx.org/">prescribing recommendations</a> based on PGx results, including treatments for depression, cancer and heart disease. There are commercially available PGx tests that patients can have sent directly to their doorstep with or without the involvement of a health care professional. These direct-to-consumer PGx tests collect DNA from either a saliva sample or cheek swab that is then sent to the laboratory. Results can take anywhere from a few days to a few weeks depending on the company. </p>
<p>Some companies <a href="https://doi.org/10.1038%2Fnature15817">require a consultation</a> with a health care provider, often a pharmacist or genetic counselor, who can facilitate a test order and discuss any medication changes once the results come back. </p>
<h2>Limitations of PGx testing</h2>
<p>PGx testing will not be able to predict how you will respond to all medications for several reasons.</p>
<p>First, most PGx tests <a href="https://doi.org/10.3390/genes11121456">do not look for every possible variant</a> of every gene in the human genome. Instead, they look only at a limited number of genes and variants strongly linked to specific drugs. PGx tests can predict how you will respond only to medications associated with the genes it tests for. </p>
<p>Some drugs are broken down in very complicated pathways entailing multiple proteins and byproducts, and the usefulness of PGx testing for them remains unclear. For example, the <a href="https://www.pharmgkb.org/pathway/PA166170276">antidepressant bupropion</a> has three major pathways involved in its breakdown and forms three active byproducts that can interact with other drugs or body processes. This makes predicting how you will respond to the drug much more challenging because there is more than one variable involved. In many cases, there also isn’t conclusive data to confidently predict the general function of a protein and how it would affect your response to a drug.</p>
<p>The applicability of PGx test results is additionally limited by a <a href="https://theconversation.com/uncovering-the-genetic-basis-of-mental-illness-requires-data-and-tools-that-arent-just-based-on-white-people-this-international-team-is-collecting-dna-samples-around-the-globe-185997">lack of diversity of study participants</a>. Typically, populations of European ancestry are overrepresented in clinical trials. An ongoing research initiative by the National Institutes of Health called the <a href="https://allofus.nih.gov/">All of Us Research Program</a> aims to address this issue by collecting genetic samples from people of diverse backgrounds. </p>
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<iframe width="440" height="260" src="https://www.youtube.com/embed/ti50nS7B5vI?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">The All of Us research program seeks to conduct research that is more representative of a diverse population.</span></figcaption>
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<p>Another limitation of direct-to-consumer PGx tests is that they can predict drug response based only on your genetics. <a href="https://my.clevelandclinic.org/health/diagnostics/21093-pharmacogenomics">Lifestyle and environmental factors</a> such as your age, liver or kidney function, tobacco use, drug interactions and other diseases can heavily influence how you may respond to medication. For example, leafy greens with high amounts of vitamin K can <a href="https://www.pennmedicine.org/updates/blogs/heart-and-vascular-blog/2015/june/consistency-not-avoidance-the-truth-about-blood-thinners-leafy-greens-and-vitamin-k">lower the effectiveness</a> of the blood thinner warfarin. But PGx tests don’t take these factors into account.</p>
<p>Finally, your PGx results may predict that you may respond to medications differently, but this does not guarantee that the medication won’t have its intended effect. In other words, PGx testing is predictive rather than deterministic.</p>
<h2>Risks of PGx testing</h2>
<p>PGx testing carries the risk of not telling the whole story of drug response. If variations within the gene are not found, the testing company often assumes the proteins those genes code for function normally. Because of this assumption, someone carrying a rare or unknown variant may receive inaccurate results.</p>
<p>It may be tempting for some people to see their results and want to change their dose or discontinue their medications. However, this can be dangerous. Abruptly stopping some medications may cause withdrawal effects. Never change the way you take your medications without consulting your pharmacist and physician first.</p>
<p>Sharing your PGx test results with all the clinicians involved in your care can help prevent medication failure and improve safety. Pharmacists are increasingly trained in pharmacogenomics and can serve as a resource to address medication-related questions or concerns.</p>
<p>PGx tests that are not authorized by the Food and Drug Administration cannot be clinically interpreted and therefore cannot be used to inform prescribing. Results from these tests should not be added to your medical record.</p>
<h2>Benefits of PGx testing</h2>
<p>Direct-to-consumer PGx testing can empower patients to advocate for themselves and be an active participant in their health care by increasing access to and knowledge of their genetic information.</p>
<p>Patients’ knowledge of their PGx genetic profile has the potential to improve treatment safety. For example, a 2023 study of over 6,000 patients in Europe found that those who used their PGx results to guide medication therapy were <a href="https://doi.org/10.1016/s0140-6736(22)01841-4">30% less likely</a> to experience adverse drug reactions.</p>
<p>Most PGx test results stay valid throughout a patient’s life, and <a href="https://mhealthfairview.org/services/pharmacogenomics">retesting is not needed</a> unless additional genes or variants need to be evaluated. As more research on gene variants is conducted, prescribing recommendations may be updated. </p>
<p>Overall, genetic information from direct-to-consumer PGx tests can help you collaborate with health care professionals to select more effective medications with a lower risk of side effects.</p><img src="https://counter.theconversation.com/content/209312/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Genetic testing can help take the guesswork out of finding the right treatment. For certain diseases. To an extent.Kayla B. Rowe, Fellow in Clinical Pharmacogenomics, University of PittsburghLucas A. Berenbrok, Associate Professor of Pharmacy and Therapeutics, University of PittsburghPhilip Empey, Associate Professor of Pharmacogenomics, University of PittsburghLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/2074302023-06-27T20:07:43Z2023-06-27T20:07:43Z‘He was horrific!’: Nearly two thirds of family historians are distressed by what they find – should DNA kits come with warnings?<figure><img src="https://images.theconversation.com/files/533425/original/file-20230622-27-w44tuc.jpg?ixlib=rb-1.1.0&rect=14%2C0%2C4889%2C3257&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Cheryl Winn-Boujnida/Unsplash</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>In 1853, my great great grandmother Charlotte died giving birth to her 13th child, in a tent on the banks of the Yarra River in what is now South Melbourne – but was then an overcrowded, muddy hellhole known as <a href="https://blogs.slv.vic.gov.au/our-stories/canvas-town-a-floating-city-devoured-by-the-sun/">Canvas Town</a>. The baby, William, died shortly afterwards. Researching Charlotte’s story made me both sad for her loss and angry at the powerlessness of women’s lives then. </p>
<p>I’m not the only one to have experienced intense emotions – both negative and positive – while researching my forebears. </p>
<p>On Facebook pages, in <a href="https://time.com/5492642/dna-test-results-family-secret-biological-father/">media stories</a> and <a href="https://www.sbs.com.au/ondemand/tv-series/who-do-you-think-you-are">on TV</a>, you’ll find a flood of hobby genealogists discovering shocking things about their ancestors – or even their own identity.</p>
<p>My recent research revealed about two thirds of family historians have experienced <a href="https://www.mdpi.com/2313-5778/7/2/26">strong negative emotions</a> like sorrow or anger through their hobby.</p>
<p>And nearly all respondents had experienced strong positive emotions such as joy or pride.</p>
<h2>Passionate ‘kin keepers’</h2>
<p>In 2019, Doreen Rosenthal and I surveyed 775 Australian hobbyist family historians to examine their <a href="https://www.routledge.com/The-Psychology-of-Family-History-Exploring-Our-Genealogy/Moore-Rosenthal-Robinson/p/book/9780367820428">motivations</a>.</p>
<p>They were adults aged between 21 and 93, but most were older and the median age was 63. The majority (85%) were women. This seems to be typical of hobbyist family historians. Women often take on the role of “kin keeper” – and have the time to devote to it when they’ve finished rearing children and have retired from paid work. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=345&fit=crop&dpr=1 600w, https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=345&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=345&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=434&fit=crop&dpr=1 754w, https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=434&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/533439/original/file-20230622-21-1n45fx.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=434&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Most family historians are older women.</span>
<span class="attribution"><span class="source">Moe Magners/Pexels</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
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</figure>
<p>Survey respondents described why they were passionately engaged with their hobby – and how it made them feel. Some 48% “sometimes” felt strong negative emotions about what they found, while 15% did “often”.</p>
<p>There were five common distress triggers.</p>
<h2>1. Ancestors behaving badly</h2>
<p>The first and most common distress trigger was the discovery of ancestors who had behaved badly – either as individuals, or by profiting from unjust social conditions. Finding these forebears made family historians feel confronted, shocked and sometimes ashamed. </p>
<p>They said things like: </p>
<blockquote>
<p>[The worst thing was] finding the bigamist! He was horrific!! Very confronting thinking that I have some of his blood in my veins!</p>
</blockquote>
<p>And:</p>
<blockquote>
<p>[It was] difficult finding that ancestors may have been involved in unsavoury behaviours or events. The problem is trying to understand the context of how they were able to do things that are socially and legally unacceptable today and not things I can be proud of.</p>
</blockquote>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/truth-telling-and-giving-back-how-settler-colonials-are-coming-to-terms-with-painful-family-histories-145165">Truth telling and giving back: how settler colonials are coming to terms with painful family histories</a>
</strong>
</em>
</p>
<hr>
<h2>2. Ancestors treated cruelly</h2>
<p>It was also distressing to discover ancestors who had been cruelly treated. This elicited disturbing, even “heartbreaking” feelings – and, at least implicitly, indignation at injustice. Many were deeply moved by what their ancestors experienced. </p>
<p>As one survey respondent put it:</p>
<blockquote>
<p>What is unexpected is the relationships that can be formed with those who are no longer with us. That I can be moved by the plight of my paternal step great great grandmother who was incarcerated in a mental institution from 1913 to 1948 without review, without visitors, to get her out of the way.</p>
</blockquote>
<h2>3. Sad stories</h2>
<p>Sadness was often specifically mentioned. As in the case of my great great grandmother who died in childbirth, sadness was usually a response to the hardships and tragedies ancestors faced in more challenging times. </p>
<p>Women commonly did not survive childbirth, neonatal deaths were frequent, people died of diseases medical science has now conquered. Poverty was rife and war a constant threat. </p>
<blockquote>
<p>[It was difficult] discovering the tragedies encountered by my Irish ancestors who came to Australia and their struggles and heartbreaking stories of survival for the next three generations.</p>
<p>[It is distressing] to uncover particularly sad and desperate times in some ancestors’ lives. For example, a destitute widow who admitted her child to an orphan asylum for three years, only to have her child die of typhoid fever within two weeks of returning home.</p>
</blockquote>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=407&fit=crop&dpr=1 600w, https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=407&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=407&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=512&fit=crop&dpr=1 754w, https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=512&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/533444/original/file-20230622-23-3c22fs.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=512&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Sadness was often mentioned by family researchers.</span>
<span class="attribution"><span class="source">Marcus Aurelius/Pexels</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<h2>4. Family secrets and betrayal</h2>
<p>The fourth distress trigger was a belief by the family history researcher that they had been betrayed by other family members: through secrets, lies and feeling their lived experience was ignored or denied. </p>
<p>This is particularly likely for those who discover “secrets” about their parentage – for example, the late-life discovery of adoption, parental infidelity or previously unknown siblings. </p>
<p>Trust is damaged. If family members can lie about these important things, what else might they lie about? </p>
<p>As one woman commented:</p>
<blockquote>
<p>My mother’s half-sister did not accept that she shared a father with my mother. My great grandmother lied about who my grandfather’s father was. My great great grandmother also lied. All these lies were very distressing.</p>
</blockquote>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/we-used-dna-from-beethovens-hair-to-shed-light-on-his-poor-health-and-stumbled-upon-a-family-secret-202440">We used DNA from Beethoven's hair to shed light on his poor health – and stumbled upon a family secret</a>
</strong>
</em>
</p>
<hr>
<h2>5. Moral dilemmas</h2>
<p>Finally, several respondents expressed doubt and confusion at the moral dilemmas they faced on discovering information that could greatly distress other living relatives. Should they tell or not? </p>
<p>An emotional burden attaches to withholding potentially distressing information of this kind. Yet there is also guilt and fear about the possible outcomes of sharing it. </p>
<blockquote>
<p>I knew an aunt had an illegitimate child before she married. Through DNA I found her granddaughter. I have yet to inform this girl who she is. I don’t feel it’s my right as she has absolutely no idea of any adoption of her father.</p>
<p>A really distressing find was that my great aunt’s husband had committed a terrible murder. I have not been able to speak about this with the descendants of the couple.</p>
</blockquote>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/friday-essay-how-do-i-understand-who-i-am-when-my-family-have-hidden-themselves-from-recent-history-171393">Friday essay: how do I understand who I am, when my family have hidden themselves from recent history?</a>
</strong>
</em>
</p>
<hr>
<h2>Healthy outcomes from bad feelings</h2>
<p>Sometimes these distressing feelings can promote healthy, growth-enhancing outcomes. After the initial shock, some traumatic genealogical discoveries lead to a greater understanding of the past and its influence. </p>
<p>Placing ancestors’ maladaptive or distressing behaviours, or their misfortunes, into historical and social context can help with acceptance and forgiveness, and stimulate emotional healing and personal growth. </p>
<p>Initial feelings of distress about past injustices and tragedies are sometimes replaced by admiration for the strength and resilience of one’s forebears. This can positively influence personal wellbeing and resilience.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=502&fit=crop&dpr=1 754w, https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=502&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/533448/original/file-20230622-27-4wg00v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=502&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Processing distressing discoveries can lead to growth.</span>
<span class="attribution"><span class="source">Brett Sayles/Pexels</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<h2>How can family and professionals help?</h2>
<p>I processed my great great grandmother’s story by writing it down and sharing it with family members. We reworked our sadness at her fate into a positive family narrative, emphasising her bravery and the strengths her surviving children showed. </p>
<p>Support can mean just disclosing these stories to family members, friends and other family historians. But for some, it may be helpful to discuss these topics privately with a counsellor or therapist, especially if they’ve led to a breakdown in family relationships or an assault on one’s sense of identity. </p>
<p>Counsellors and psychologists should develop strategies to support clients distressed by genealogical findings – and encourage them to use their new knowledge for personal growth and greater understanding of family dynamics. </p>
<p>Should providers of genealogical research products (especially DNA tests) educate their customers about their products’ potential to cause distress?</p>
<p>Trigger warnings might be overkill. But they could issue lists of support resources for those who are upset or disoriented by their findings.</p>
<p>As more people gain access to more genealogical data – with the potential to challenge identity and uncover family secrets – it’s worth thinking about.</p><img src="https://counter.theconversation.com/content/207430/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Susan Moore does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Researching family history is a popular hobby. But hobbyists can find themselves unearthing details of ancestors behaving badly or treated cruelly – or family secrets and trauma.Susan Moore, Emeritus Professor, Faculty of Health, Arts and Design, Swinburne University of TechnologyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1813922022-08-15T12:38:50Z2022-08-15T12:38:50ZWhich microbes live in your gut? A microbiologist tries at-home test kits to see what they reveal about the microbiome<figure><img src="https://images.theconversation.com/files/467238/original/file-20220606-13238-ocqxbp.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2305%2C1299&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">You and the trillions of microbes in your gut can live in harmony.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/illustration/bacteria-of-different-shapes-illustration-royalty-free-illustration/1359395159">Kateryna Kon/Science Photo Library via Getty Images</a></span></figcaption></figure><p>When you hear about the gut microbiome, does it ever make you wonder what tiny creatures are teeming inside your own body? As a <a href="https://scholar.google.com/citations?user=qtxpXdcAAAAJ&hl=en">microbiologist</a> who studies the microbiomes of plants, animals and people, I’ve watched public interest in gut microbes grow alongside research on their possible <a href="https://doi.org/10.1111/jgh.15728">dramatic</a> <a href="https://doi.org/10.1016/S1474-4422(19)30356-4">influence</a> on human health. In the past several years, microbiome testing techniques used by researchers like me are <a href="https://www.nytimes.com/2021/10/13/well/live/microbiome-test.html">now available to consumers at home</a>. These personal gut microbiome testing kits claim to tell you what organisms live in your gut and how to improve your gut microbiome using that data. </p>
<p>I became very interested in how these home test kits work, what kind of information they provide and whether they can really help you change your gut microbiome. So I ordered a few kits from Viome, Biohm and Floré, tried them out and sifted through my own microbiome data. Here is what I learned.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/VzPD009qTN4?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">Your gut microbiome can be a partner in your health – if you have the right bacteria.</span></figcaption>
</figure>
<h2>How do gut microbiome kits work?</h2>
<p>All gut microbiome kits require you to carefully collect fresh fecal material. You put it in the various tubes provided in the kit and mail the samples back to the company. Several weeks later, you’ll receive a report describing the types of microbes living in your gut and suggestions on how to change your diet or activities to potentially alter your gut microbiome.</p>
<p>What consumers don’t exactly know is how companies generate the microbial profile data from your fecal sample. A typical approach I and other microbiome researchers use is to extract and decode the microbial genetic material from a sample. We use that genetic material to identify what species of microbes are present. The challenge is that <a href="https://doi.org/10.1016/j.cgh.2018.09.017">this process can be done in many different ways</a>, and there are no widely agreed-upon standards for what is the best method.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Three gut microbiome test kits (Floré, Biohm, Viome) and a roll of toilet paper displayed on a tile floor" src="https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=587&fit=crop&dpr=1 600w, https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=587&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=587&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=737&fit=crop&dpr=1 754w, https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=737&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/464112/original/file-20220518-15-2bqtdm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=737&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Different home gut microbiome test kits can give conflicting results.</span>
<span class="attribution"><span class="source">Benjamin Wolfe</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
</figcaption>
</figure>
<p>For example, microbiome analyses can be done on two types of genetic material, <a href="https://www.genome.gov/genetics-glossary/RNA-Ribonucleic-Acid">RNA</a> or <a href="https://www.genome.gov/about-genomics/fact-sheets/Deoxyribonucleic-Acid-Fact-Sheet">DNA</a>. If the profile is based on DNA, it can give you a snapshot only of what types of microbes are present, not what microbial genes are active or what activities they are doing in your body. On the other hand, if the profile is based on RNA, it can tell you not only what microbes are present, but also whether they’re playing a role in your digestion or producing metabolites that can reduce gut inflammation, among other functions. Viome <a href="https://www.viome.com/blog/why-rna-and-not-dna-how-viome-assesses-microbial-activity">generates its profiles</a> by looking at RNA, while the other companies use DNA.</p>
<p>Other data analysis choices, such as how different types of genetic sequences are sorted or which databases are used to identify the microbes, can also <a href="https://doi.org/10.1038/s41467-022-28034-z">affect the level of detail and utility</a> of the final data. Microbiome scientists are usually very careful to point out these nuances when interpreting their own data in scientific papers, but these details are not clearly presented in home microbiome kits.</p>
<h2>What I learned about my gut microbiome</h2>
<p>Though I used the same fecal sample for each kit, mixed well to ensure uniformity, I was surprised that each of the three products I tried gave me different impressions of my gut microbiome.</p>
<p>Each company gives an overall “score” on how your microbiome compares with what they consider to be “good” or “healthy.” My scores ranged from 39% (not great) to 72% (good). Interestingly, Viome, which infers microbial activity by using RNA, gave the lowest score. It noted that certain microbial activities happening in my gut, such as methane production and digestion efficiency, were not optimal.</p>
<p>I was also surprised by the variation in total microbial diversity each company reported. While there was general agreement in the overall groups of microbes present at the phylum level, a more general biological grouping, there was a huge range of variation at the species level, the most specific grouping. One company reported 527 species of microbes in my microbiome, while another reported 312. One reported only 27.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Diagram depicting taxonomic rankings from species to kingdom" src="https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=525&fit=crop&dpr=1 600w, https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=525&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=525&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=660&fit=crop&dpr=1 754w, https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=660&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/467230/original/file-20220606-14-mt8tvp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=660&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Organisms like microbes can be classified into groups of relatedness, from highly specific (species) to very general (kingdom).</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/illustration/classification-system-vector-illustration-royalty-free-illustration/1185111143">VectorMine/iStock via Getty Images Plus</a></span>
</figcaption>
</figure>
<p>Perhaps the most surprising finding was that my gut may harbor a microbe that could (there are many caveats here!) pose a problem for me in the future if I experience certain medical situations. Even though all companies explicitly looked for this microbe in my gut microbiome sample, only two actually found it. While I won’t name the exact microbe to protect my health privacy, I am not too worried about this result because more information, such as full genome sequencing of the microbe, is needed to better understand if this is actually a concerning strain of this microbe. But this finding does point to some surprising variation in results across different testing kits.</p>
<h2>Can this data really improve your gut microbiome?</h2>
<p>Many microbiome scientists like me would probably argue that the data these kits provide are limited in terms of giving you the power to alter your health. This is partly because gut microbiome science is still a new field with many unanswered questions. </p>
<p>One challenge is that different people can have <a href="https://doi.org/10.1038/nature11234">different proportions of microbes</a> present in their gut. This variation has made it difficult for scientists and health professionals to agree on what type of microbial community <a href="https://doi.org/10.1053/j.gastro.2020.09.057">makes a gut “healthy</a>.” Some specific species, such as the bacterium <em><a href="https://www.cdc.gov/cdiff/what-is.html">C. diff</a></em>, and some broad groups, like <a href="https://doi.org/10.1016/j.tibtech.2015.06.011">Proteobacteria</a>, are usually considered undesirable in high amounts. But there is no clear consensus on why one microbiome might be better than another.</p>
<p>Even if you did try to improve your gut microbiome based on what your gut test told you, the results might not turn out as you hoped. Probiotics or diet changes can alter the diversity of your gut microbiome and how it functions, but studies often find that each person can have different responses to these interventions, possibly because of their own <a href="https://doi.org/10.1016/j.cell.2018.08.041">unique microbiome composition</a>. The personalized ecology of gut microbial communities, combined with genetics, diet and other factors, makes it challenging to prescribe universal solutions.</p>
<p>So why bother getting a gut microbiome test? For me, it was illuminating to learn what microbes I carry around with me each day. When I eat my lunch, go for a run or get stressed out, the microbes in my gut respond to changes in my body. Researchers may not completely understand what those changes mean and how to manage our microbial partners, but getting to know who they are is a great first step.</p><img src="https://counter.theconversation.com/content/181392/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Benjamin Wolfe receives funding from the National Science Foundation and the United State Department of Agriculture.</span></em></p>The types of microbes residing in your gut can affect your mental and physical health. Home microbiome tests promise to help consumers improve the composition of their gut microbes.Benjamin Wolfe, Associate Professor of Biology, Tufts UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1831912022-08-04T15:56:59Z2022-08-04T15:56:59ZDNA test kits are changing donor-conceived families<figure><img src="https://images.theconversation.com/files/469777/original/file-20220620-24-tyqo2i.jpg?ixlib=rb-1.1.0&rect=20%2C0%2C6689%2C4476&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA testing is becoming more popular</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/young-attractive-female-scientist-protective-eyeglasses-707498413">Shutterstock</a></span></figcaption></figure><p>A law passed on April 1 2005 will have life-changing consequences for families across the UK from next year. </p>
<p>Anyone conceived from a donated sperm, egg or embryo from that day onward can find out the identity of their donor parents once they reach adulthood. This means that starting from late 2023, when the oldest of these people begin to turn 18, there could be a deluge of young people wishing to find out who their donor was. But thanks to at-home DNA testing, many donor-conceived people are already uncovering their biological origins in what can be an emotionally difficult process.</p>
<p>There were around 1,500 live births in the UK as a result of donated eggs or sperm in that first year the law was changed (April 1 2005 - March 31 2006). I can only imagine the meetings and the emotions, both wonderful and difficult, involved for families next year. </p>
<p>This will also be a watershed moment for the <a href="https://www.hfea.gov.uk">Human Fertility and Embryology Authority</a> (HFEA), the independent regulator that regulates fertility treatment (and research on human embryos) in the UK and will oversee this process. </p>
<p>But not all donor-conceived people will see the benefit of this law. Anyone conceived after August 1991 can only find out non-identifying information such as eye colour or country of birth of their donor. This was when the HFEA was created to record all uses of donated eggs, sperm and embryos in addition to regulating the UK’s licensed fertility clinics.</p>
<p>Before August 1991, fertility treatment was a bit of a wild west and anyone born before this period would have little chance ever finding out who their donor was. They have to wait for their donor to come forward and lift their anonymity through the HFEA. Or the donor (and donor conceived person) can place themselves on the <a href="https://www.liverpoolwomens.nhs.uk/our-services/donor-conceived-register-dcr/">Donor Conceived Register</a> (DCR), set up to match pre-1991 donor parents and children and siblings sharing the same donor. </p>
<h2>Do it yourself DNA</h2>
<p>At least this was the case until an explosion in at-home DNA test kits being sold to the public by direct to consumer (DTC) testing companies such as Ancestry, 23andMe, MyHeritage. They can be bought online for as little as £50. It is thought that over <a href="https://www.advisory.com/daily-briefing/2020/02/20/dna-tests">30 million people</a> worldwide have bought these test kits. </p>
<p>This third route to tracing your biological family is one I am well acquainted with as the lead genetic genealogist on <a href="https://www.bbc.co.uk/programmes/m000sthc">BBC 2’s DNA Family Secrets</a> hosted by Stacey Dooley. Genetic testing companies have enormous databases that make it increasingly easy to find your donor. </p>
<p>You can simply take a DNA test and look for people that match your DNA. If you can’t fit these matches into your known family tree, then it could be because they’re from your donor’s family. Sometimes people get matches with a donor-sibling or their donor immediately.</p>
<figure class="align-center ">
<img alt="Little colourful balloons with ribbon" src="https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=410&fit=crop&dpr=1 600w, https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=410&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=410&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=515&fit=crop&dpr=1 754w, https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=515&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/475102/original/file-20220720-9535-asrswp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=515&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Many men donated sperm and assumed they could not be traced.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/colorful-balloons-spermatozoid-shape-on-blue-1100465771">olliulli/Shutterstock</a></span>
</figcaption>
</figure>
<p>The first such case to make headlines was in 2005 when a 15-year-old boy bought a Y chromosome test in the hope of <a href="http://news.bbc.co.uk/1/hi/health/4400778.stm">finding his father</a>. The Y chromosome is a segment of DNA passed down through the male line, from father to son, much as a surname often is. </p>
<p>The lad’s Y chromosome test brought up matches with two men that must have been related to his sperm donor father. They also had spelling variants of the same surname. Armed with his father’s date and place of birth, university degree and a potential surname, he turned to private investigator company Omnitrace. Within hours he traced his supposedly anonymous sperm donor father. </p>
<p>Since then, genetic testing has become more advanced. You can even hire a genetic genealogist to do the work for you, although success is not guaranteed. The floodgates are well and truly open.</p>
<h2>Family secrets</h2>
<p>In the second series of <a href="https://www.bbc.co.uk/programmes/m000sthc">DNA Family Secrets</a>, which aired in 2022, 46-year-old Mel came to us wondering if she could find out who her sperm donor father was. Testing with a couple of the big direct to consumer companies revealed two relatively close matches. It took literally minutes to work out that her donor father was one of three brothers. DNA testing one of their sons joined the dots. </p>
<p>On the other side of the coin is 53-year-old Luke, who after the death of a close friend, began to think about the consequences of donating his sperm in the 80s and 90s. He knew from the HFEA he had at least six children but had no idea who they were. He came to DNA Family Secrets to lift his anonymity further. He not only put himself on the DCR but also took DNA tests. At the time of broadcast, no further people were found but they may well come forward in the future.</p>
<p>Luke is rare. Just over 200 men, out of the many thousands of men who have donated sperm over the years, have lifted their anonymity prior to donor anonymity rules changing.</p>
<p>Some men donate sperm for the compensation payments (<a href="https://www.londonspermbank.com/blog/how-much-do-uk-sperm-banks-compensate-their-donors/">set at £35 in the UK</a>), others for altruistic reasons to help infertile couples. </p>
<p>Other men have contacted me to share their stories. They donated sperm years ago and have been found after they or a relative took a DNA test with one of the big companies. Some have never told their partners or children that they donated. The emotional reverberations for their families can be enormous. Both Mel and Luke benefited from the behind-the-scenes support of the social workers and counsellors that we provide as part of the programme. Others do not. </p>
<p>The HFEA are <a href="https://www.theguardian.com/society/2022/may/20/uk-fertility-watchdog-could-recommend-scrapping-donor-anonymity-law">considering lifting donor anonymity</a> retrospectively. Any change in the law would be up to parliament to decide. The Australian government did so with <a href="https://aifs.gov.au/publications/family-matters/issue-98/donor-identification">Narelle’s law</a> named in memory a woman died from bowel cancer inherited from her donor father. </p>
<p>Next year could bring some extraordinary reunions. The time is now to discuss how society handles, and supports, those born before 2005.</p><img src="https://counter.theconversation.com/content/183191/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Turi King does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Taking a DNA test kit sounds like harmless fun but some people end up getting more than they bargained for.Turi King, Professor of Genetics and Public Engagement, University of LeicesterLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1788662022-06-03T12:20:19Z2022-06-03T12:20:19ZGenetic paparazzi are right around the corner, and courts aren’t ready to confront the legal quagmire of DNA theft<figure><img src="https://images.theconversation.com/files/466687/original/file-20220601-48041-5tdwjf.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2309%2C1299&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA is a trove of personal information that can be hard to keep track of and protect. </span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/dna-royalty-free-image/1369527112">Boris Zhitkov/Moment via Getty Images</a></span></figcaption></figure><p>Every so often stories of <a href="https://ssrn.com/abstract=1684337">genetic theft</a>, or extreme precautions taken to avoid it, make headline news. So it was with a <a href="https://www.theweek.in/news/world/2022/02/12/explained-what-is-dna-theft-why-did-macron-refuse-russian-covid-test.html">picture</a> of French President Emmanuel Macron and Russian President Vladimir Putin sitting at <a href="https://www.reuters.com/world/europe/putin-kept-macron-distance-snubbing-covid-demands-sources-2022-02-10/">opposite ends of a very long table</a> after Macron declined to take a Russian PCR COVID-19 test in 2022. Many <a href="https://www.firstpost.com/world/dna-theft-fears-why-french-and-german-leaders-refused-to-take-russian-covid-test-10386501.html">speculated</a> that Macron refused due to security concerns that the Russians would take and use his DNA for nefarious purposes. German Chancellor Olaf Scholz <a href="https://www.theweek.co.uk/news/world-news/russia/955813/why-world-leaders-refuse-give-russia-dna">similarly refused</a> to take a Russian PCR COVID-19 test.</p>
<p>While these concerns may seem relatively new, pop star celebrity Madonna has been raising alarm bells about the potential for nonconsensual, surreptitious collection and testing of DNA for over a decade. She has <a href="https://geneticliteracyproject.org/2016/02/19/madonna-may-suffer-dna-paranoia/">hired cleaning crews</a> to sterilize her dressing rooms after concerts and requires her own new toilet seats at each stop of her tours. </p>
<p>At first, Madonna was ridiculed for having <a href="https://www.dailymail.co.uk/tvshowbiz/article-2163460/Paranoia-Madonna-orders-sterile-sweep-dressing-room-gig-prevent-fans-stealing-DNA.html">DNA paranoia</a>. But as more advanced, faster and cheaper genetic technologies have reached the consumer realm, these concerns seem not only reasonable, but justified.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Putin and Macron sitting at opposite ends of a long table" src="https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=380&fit=crop&dpr=1 600w, https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=380&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=380&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=478&fit=crop&dpr=1 754w, https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=478&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/466685/original/file-20220601-66680-bioj3t.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=478&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">For some, keeping one’s distance might be a preferable alternative to getting one’s DNA stolen.</span>
<span class="attribution"><a class="source" href="https://newsroom.ap.org/detail/RussiaUkraineTalkingtoPutin/0778415f155a4cff94894c58f9fb6bb8">AP Photo/Pool Sputnik Kremlin</a></span>
</figcaption>
</figure>
<p><a href="https://law.emory.edu/faculty/faculty-profiles/vertinsky-profile.html">We are</a> <a href="https://scholar.google.com/citations?user=OKxLE-QAAAAJ&hl=en">law professors</a> who study how emerging technologies like genetic sequencing are regulated. We <a href="https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3559405">believe that</a> growing public interest in genetics has increased the likelihood that <a href="https://www.cambridge.org/core/books/abs/consumer-genetic-technologies/genetic-paparazzi/7B0D35C61C3CBD9DA3FE0D457C22BB9B">genetic paparazzi</a> with DNA collection kits may soon become as ubiquitous as ones with cameras. </p>
<p>While courts have for the most part <a href="https://www.forbes.com/sites/michellefabio/2018/04/23/madonna-loses-fight-to-reclaim-tupacs-letter-other-highly-personal-items/">managed to evade</a> dealing with the complexities of surreptitious DNA collection and testing of public figures, they won’t be able to avoid dealing with it for much longer. And when they do, they are going to run squarely into the <a href="https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3559405">limitations of existing legal frameworks</a> when it comes to genetics.</p>
<h2>Genetic information troves</h2>
<p>You <a href="https://journalofethics.ama-assn.org/article/shedding-privacy-along-our-genetic-material-what-constitutes-adequate-legal-protection-against/2016-03">leave your DNA behind you</a> everywhere you go. The strands of hair, fingernails, dead skin and saliva you shed as you move through your day are all collectible trails of DNA.</p>
<p>Genetic analysis can reveal not only personal information, such as existing health conditions or risk for developing certain diseases, but also core aspects of a person’s identity, such as their ancestry and the potential traits of their future children. In addition, as genetic technologies continue to evolve, fears about using surreptitiously collected genetic material for <a href="https://news.gsu.edu/2020/04/28/genetic-paparazzi-could-celebrity-dna-become-public-domain/">reproductive purposes</a> via <a href="https://doi.org/10.1093/jlb/lsv057">in vitro gametogenesis</a> become more than just paranoia.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/Eb_o8hQNUFI?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">In vitro gametogenesis (IVG), while still in development, could allow prospective parents to create egg or sperm from other parts of the body, like skin.</span></figcaption>
</figure>
<p>Ultimately, taking an individual’s genetic material and information without their consent is an intrusion into a legal domain that is still considered <a href="https://doi.org/10.1017/9781108874106.012">deeply personal</a>. Despite this, there are <a href="https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3559405">few laws</a> protecting the interests of individuals regarding their genetic material and information. </p>
<h2>Existing legal frameworks</h2>
<p>When disputes involving genetic theft from public figures inevitably reach the courtroom, judges will need to confront fundamental questions about how genetics relates to personhood and identity, property, health and disease, intellectual property and reproductive rights. Such questions have already been raised in cases involving the <a href="https://www.virginialawreview.org/articles/genetic-privacy-after-carpenter/">use of genetics in law enforcement</a>, the <a href="https://www.science.org/content/article/us-supreme-court-strikes-down-human-gene-patents">patentability of DNA</a> and ownership of <a href="https://scholarship.law.nd.edu/ndlr/vol93/iss3/5/">discarded genetic materials</a>. </p>
<p>In each of these cases, courts focused on <a href="https://columbialawreview.org/content/dna-by-the-entirety-2/">only one dimension</a> of genetics, such as privacy rights or the value of genetic information for biomedical research. But this limited approach disregards <a href="https://doi.org/10.1111/j.1748-720x.2007.00161.x">other aspects</a>, such as the privacy of family members with shared genetics, or property and identity interests someone may have in genetic material discarded as part of a medical procedure.</p>
<p><div data-react-class="Tweet" data-react-props="{"tweetId":"1336309197697413123"}"></div></p>
<p>In the case of genetic paparazzi, courts will presumably try to fit complex questions about genetics into the legal framework of <a href="https://scholarship.law.upenn.edu/jcl/vol19/iss4/4/">privacy rights</a> because this is how they have approached other intrusions into the lives of public figures in the past. </p>
<p>Modern <a href="https://heinonline.org/HOL/LandingPage?handle=hein.journals/hclwpo11&div=16&id=&page=">U.S. privacy law</a> is a complex web of state and federal regulations governing how information can be acquired, accessed, stored and used. The right to privacy is limited by First Amendment protections on the freedom of speech and press, as well as Fourth Amendment prohibitions on unreasonable searches and seizure. <a href="https://scholarship.law.upenn.edu/cgi/viewcontent.cgi?article=1633&context=jcl">Public figures</a> face further restrictions on their privacy rights because they are objects of legitimate public interest. On the other hand, they also have publicity rights that control the commercial value of their unique personally identifying traits.</p>
<p>People whose genetic material has been taken without their consent may also raise a <a href="https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3357566">claim of conversion</a> that their property has been interfered with and lost. Courts in Florida are currently considering a conversion claim in a <a href="https://gizmodo.com/how-a-legal-brawl-between-two-rich-guys-could-change-ho-1824191082">private dispute</a> where the former CEO of Marvel Entertainment and his wife accused a millionaire businessman of stealing their DNA to prove that they were slandering him through a hate-mail campaign. This approach replaces the narrow legal framework of privacy with an even narrower framework of property, reducing genetics to an object that someone possesses.</p>
<h2>What the future may hold</h2>
<p>Under existing laws and the current state of genetic technology, most people don’t need to worry about surreptitious collection and use of genetic material in the way that public figures might. But genetic paparazzi cases will likely play an important role in determining what rights everyone else will or will not have.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Open 23andMe genetic testing kit" src="https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/466689/original/file-20220601-48776-susuv1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">As DNA testing technology advances, questions about genetic privacy and ownership will only become more complex.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/news-photo/this-illustration-picture-shows-a-saliva-collection-kit-for-news-photo/1074407824">Eric Baradat/AFP via Getty Images</a></span>
</figcaption>
</figure>
<p>The U.S. Supreme Court is very unlikely to recognize new rights, or even affirm previously recognized rights, that are <a href="https://www.washingtonpost.com/outlook/2022/03/25/ketanji-brown-jackson-roe/">not explicitly mentioned in the Constitution</a>. Therefore, at least at the federal level, individual protections for genetic material and information are not likely to adapt to changing times.</p>
<p>This means that cases involving genetics are likely to fall within the purview of state legislatures and courts. But none of the states have <a href="https://papers.ssrn.com/sol3/papers.cfm?abstract_id=3559405">adequately grappled</a> with the complexities of genetic legal claims. Even in states with laws specifically designed to protect genetic privacy, regulations cover only a <a href="https://doi.org/10.1038/nrg3113">narrow range</a> of genetic interests. Some laws, for example, may prohibit disclosure of genetic information, but not collection.</p>
<p>For better or for worse, how the courts rule in genetic paparazzi cases will shape how society thinks about genetic privacy and about individual rights regarding genetics more broadly.</p><img src="https://counter.theconversation.com/content/178866/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Both Macron and Madonna have expressed concerns about genetic privacy. As DNA collection and sequencing becomes increasingly commonplace, what may seem paranoid may instead be prescient.Liza Vertinsky, Professor of Law, University of MarylandYaniv Heled, Professor of Law, Georgia State UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1669402022-04-19T12:20:59Z2022-04-19T12:20:59ZHow a South African community’s request for its genetic data raises questions about ethical and equitable research<figure><img src="https://images.theconversation.com/files/447331/original/file-20220218-43570-jbyp9t.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2941%2C1959&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Many researchers are interested in the genetic history of the Khoe-San.</span> <span class="attribution"><span class="source">Dana Al-Hindi</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span></figcaption></figure><p>Scientists believe Africa is where <a href="https://www.pbs.org/newshour/science/cradle-of-modern-human-life-found-in-botswana-maybe">modern humans first emerged</a>. For the past decade, our team of <a href="https://scholar.google.com/citations?user=sDUNh9UAAAAJ&hl=en">genetic</a> <a href="http://hennlab.ucdavis.edu/dana-al-hindi.html">researchers</a> from the <a href="http://hennlab.ucdavis.edu/">Henn Lab</a> have worked among the Khoe-San and self-identified “<a href="https://www.semanticscholar.org/paper/What%27s-in-a-name-Racial-categorisations-under-and-Posel/81e1ad38d1f37b37fe1cddd8a81081b378242217">Coloured</a>” communities in South Africa, which comprise multiple ethnic groups in the region, requesting DNA and generating genetic data to help unravel the history and prehistory of southern Africans and their relationship to populations around the world. </p>
<p>While we have learned a great deal from these communities, we have been unable to fulfill a common request: providing them their individual genetic ancestry results. In our attempts to overcome the logistical challenges of providing this information, we’ve grappled with the common question of how to ensure an equitable balance of benefits between researchers and the community they study. What we’ve found is that there is no easy answer. </p>
<h2>The history of the Khoe-San</h2>
<p>Community member requests to see their genetic results came as no surprise. Many South African groups were stripped of their identities and collapsed into one overarching racial category known as “<a href="https://doi.org/10.1016/S1090-9524(03)00007-X">Coloured</a>” during the early 1900s. Early <a href="https://muse.jhu.edu/book/35209">European colonizers</a> initially used this term to refer to indigenous Khoekhoe and San groups long before it was codified by the apartheid government in 1948. It persists today as an ethnic category, broadly encompassing Khoe-San groups, various East African, Indian and Southeast Asian populations brought by the slave trade, and people of mixed ancestry. </p>
<p><a href="https://doi.org/10.1534/genetics.116.187369">We</a> and <a href="https://doi.org/10.1126/science.1227721">other</a> research groups have shown that some Coloured communities are largely descendants of the Khoe and San peoples. Other ancestries present in Coloured communities are from Bantu-speaking populations that migrated into the region from <a href="https://doi.org/10.1093/hmg/ddaa274">western Africa</a> around 1,500 years ago and from <a href="https://doi.org/10.1186/s12915-020-0746-1">Europe</a> a little under 400 years ago. <a href="https://doi.org/10.1186/s12915-020-0746-1">Asian ancestry</a> is also present as a result of the aforementioned slave trade.</p>
<p>The Khoe and San are considered the most <a href="https://doi.org/10.1073/pnas.1017511108">genetically diverse</a> human populations currently known, meaning they have a large amount of genetic differences within and between each community. Though they are distinct groups, they share genetic similarities with each other. As a result, geneticists collectively refer to them as <a href="https://doi.org/10.1038/464487a">Khoe-San</a>, using a hyphen to acknowledge their cultural distinction.</p>
<p>Today, few people identify as Khoe or San in South Africa. Rather, many people call themselves Coloured, though they are deeply aware of the term’s racist legacy. </p>
<h2>Logistical challenges and potential risks</h2>
<p>In our 12 years of fieldwork, we have returned to South Africa on a nearly annual basis to update community-level genetic results. At each visit, most of our participants ask about their personal genetic ancestry results. </p>
<p>But there are several hurdles we face in trying to fulfill their requests. For one, we need to be able to translate scientifically complex data into an accessible and digestible form, a skill that researchers are not always equipped with. Additionally, we must work within restrictions set by <a href="http://www.sun.ac.za/english/faculty/healthsciences/rdsd/Documents/Ethics/DoH%202015%20Ethics%20in%20Health%20Research%20-%20Principles,%20Processes%20and%20Structures%202nd%20Ed.pdf">the local government</a>, which is mediated by the Health Research Ethics Committee at our collaborators’ academic institution, as well as restrictions set by the <a href="http://trust-project.eu/wp-content/uploads/2017/03/San-Code-of-RESEARCH-Ethics-Booklet-final.pdf">South African San Council</a>.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Enrolled research participant holding the spitkit during saliva collection" src="https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=612&fit=crop&dpr=1 600w, https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=612&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=612&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=770&fit=crop&dpr=1 754w, https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=770&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/449876/original/file-20220303-4451-15ykg4f.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=770&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Researchers extracted DNA from saliva samples.</span>
<span class="attribution"><span class="source">Dana Al-Hindi</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
</figcaption>
</figure>
<p>There are also <a href="https://www.ncbi.nlm.nih.gov/books/NBK525077/">potential risks</a> to the participant. Group-level results provide a protective blanket from potential legal or social issues that can arise from individual ancestry results. For example, a participant may learn that their biological father is not who they believed they were, which could sow conflict in the family and unease for the participant. More generally, the participant faces the social risk of being included or excluded from different communities depending on the outcome of the results.</p>
<p>We discussed these potential problems with past participants and found that most community members care little about the risks. Our participants have consistently viewed the option to receive their personal ancestry results as a benefit of taking part in research. They simply want to know who their forefathers were.</p>
<h2>Helicopter research and exploitation</h2>
<p>To fulfill these requests, we’ve partnered with <a href="https://www.23andme.com/">23andMe Inc.</a>, a U.S.-based company that provides at-home genetic testing. One of us previously worked for 23andMe on its ancestry team and continues to maintain a relationship with scientists at the company. When 23andMe launched a <a href="https://blog.23andme.com/23andme-research/23andmes-populations-collaborations/">program in 2018</a> to improve genetic data on underrepresented communities in biomedical and genetic research, we were excited to see an emphasis on local partnerships and community grants. We submitted a successful application, and 23andMe has provided us with funding to conduct this research.</p>
<p>As academic researchers, we don’t always have the right expertise on how to best communicate personal results. Nor do we often have the funds to successfully execute this task. Research grants do not typically provide support for community development, and graduate and postdoctoral researchers lack protected time to do this on top of their other responsibilities. 23andMe, on the other hand, already has the resources and the experience to accessibly communicate personal genomic results to lay people, because that’s its commercial product. Thus, collaborations with for-profit organizations is not uncommon. Along with <a href="https://doi.org/10.1101/2022.02.07.478793">23andMe</a>, academic researchers have also worked with genetic testing companies <a href="https://www.forbes.com/sites/tommywilliams1/2020/02/29/meet-54gene-changing-the-landscape-of-global-dna-by-including-africa/?sh=6a92cbc55abd">54gene</a> and <a href="https://medium.com/variantbio/variant-bio-launches-new-partnership-on-kidney-disease-in-south-africa-ef3657fb4f3d">Variant Bio</a>.</p>
<p>With approval from the research ethics committee of the local university we work with, 23andMe will fund the expenses of our fieldwork and a community grant, in addition to processing our DNA samples in exchange for data access. They plan to use the data to improve African ancestry results for their customers and for their own research projects. </p>
<p>The company made <a href="https://www.bloomberg.com/news/features/2021-11-04/23andme-to-use-dna-tests-to-make-cancer-drugs">over US$50 million</a> in 2021, and its plans to use the genetic data it has accumulated from its customers to develop pharmaceuticals has not been without <a href="https://www.nytimes.com/2021/09/20/opinion/23andme-dna.html">controversy</a> in the U.S. The samples collected in our partnership with 23andMe, however, would not be used to develop new drugs. While our research focuses primarily on broadening scientific knowledge, and 23andMe does make an effort to follow an <a href="https://blog.23andme.com/23andme-research/an-ethical-framework-for-international-research/">ethical framework</a> for collaborations like these, our developing partnership has heightened our concerns about exploitation and what’s known as <a href="https://doi.org/10.1038/d41586-021-01795-1">helicopter research</a>.</p>
<p>Scientists conduct helicopter research when they collect data from developing countries and marginalized communities with little to no involvement from local researchers and community members. Helicopter research also occurs when researchers take data out of the country they collected it from without either providing benefit to or sharing the results with the community.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/HOBlWaH-Owo?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">Informed consent is not enough to prevent research from being exploitative.</span></figcaption>
</figure>
<p>San communities are <a href="https://www.smithsonianmag.com/smart-news/san-people-south-africa-issue-code-ethics-researchers-180962615/">no strangers</a> to helicopter research. For example, <a href="https://doi.org/10.1007/978-90-481-3123-5_6">hoodia</a> is a cactus San communities use to suppress appetite during long hunts or famine. Pharmaceutical companies researched and patented this cultural knowledge in 1995 to develop and sell an anti-obesity pill, initially all without San recognition or involvement. If the San were acknowledged at all, they were referred to as a <a href="https://uwapress.uw.edu/book/9780295742175/reinventing-hoodia/">population that no longer existed</a>. After several legal disputes, the San were promised benefits from any production that came out of the project. Though they received <a href="https://www.unl.edu/rhames/courses/current/hoodia.htm">some compensation</a>, it was a fraction of the value they funneled toward the research and <a href="https://uwapress.uw.edu/book/9780295742175/reinventing-hoodia/">nowhere near what was promised</a>.</p>
<p>This has been a recurring issue for the Khoe and San communities, most recently involving the <a href="https://doi.org/10.1038/d41586-019-03374-x">rooibos tea industry</a>. Companies conducted over a century of commercial rooibos farming benefiting from Khoe and San cultural knowledge before finally agreeing to pay 1.5% of what farmers make for unprocessed rooibos to the communities. Because of this, gaining approval from the local university’s ethics committee for our project has been difficult, and understandably so.</p>
<p>To build a more active and transparent relationship with the local community, we are working closely with 23andMe to develop an advisory board of members from local communities. We have held town halls and conducted interviews with locals to ask if they’d still be interested in being a part of this research project if a company became involved. The majority expressed little concern about 23andMe’s involvement and potentially profiting from their genetic information. But history has shown that for study participants around the globe, <a href="https://doi.org/10.1017/S0963180111000259">informed consent</a> has its limitations. It is still difficult to communicate and gauge whether participants, or the <a href="https://www.vox.com/recode/2019/12/13/20978024/genetic-testing-dna-consequences-23andme-ancestry">millions of Americans</a> who have paid 23andMe for genetic testing, fully understand the full extent of the risks involved with giving away their genetic data, both to 23andMe and to us academic researchers.</p>
<p>The company has offered to provide small community grants to help meet local needs, and has also expanded our ability to “<a href="https://www.un.org/en/academic-impact/capacity-building">capacity-build</a>” – that is, to make sure that the knowledge and skills we gain are shared with local institutions. But the question remains whether there is an equitable balance of benefits. Other companies have already promised <a href="https://54gene.com/we-have-launched-a-trust-to-reinvest-5-of-proceeds-from-commercial-drug-discovery-programs-on-african-scientists-and-communities/">long-term benefits</a> by <a href="https://www.variantbio.com/faq">sharing equity and profit</a> with participating communities. Are individual ancestry results and community grants a sufficient and fair exchange against the profits the company will gain from this collaboration?</p>
<h2>Where does this leave us?</h2>
<p>Academic researchers are faced with navigating the many trade-offs that come with industry collaborations. While 23andMe’s participation provides a means to return individual results to the community, it also raises questions about sufficiently equitable benefits. Our research team, local collaborators and 23andMe are all concerned about how to best address the risk of helicopter research, coercion and any unknown risks that may arise from disclosing personal ancestry results. </p>
<p>In an ideal world, researchers would be able to return benefits to the community without involving nonacademic external parties. Integrating practices like returning results to communities within <a href="https://doi.org/10.1371/journal.pcbi.1009277">research grant requirements</a> is one way to ensure that participants are also benefiting from research. Nonprofit small grants dedicated to returning results and community benefit are another. Until then, researchers will continue to make do with the limited resources they have.</p>
<p><em>This article was updated to more accurately reflect how 23andMe will use the collected data.</em></p><img src="https://counter.theconversation.com/content/166940/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Dana Al-Hindi intends to use Dr. Henn's awarded funds from 23andMe Inc. to complete fieldwork and return of results to sampled communities. </span></em></p><p class="fine-print"><em><span>Brenna Henn is a former employee of 23andMe, Inc. and retains shares in the organization. She has received funding from 23andMe to complete research described in this article. </span></em></p>The South African Khoe-San communities are no strangers to exploitative research. One research team is trying to provide genetic ancestry results to community members. But they still face many challenges.Dana Al-Hindi, PhD Candidate in Anthropology, University of California, DavisBrenna Henn, Associate Professor of Anthropology, University of California, DavisLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1743892022-01-18T13:40:25Z2022-01-18T13:40:25ZSperm donation is largely unregulated, but that could soon change as lawsuits multiply<figure><img src="https://images.theconversation.com/files/440766/original/file-20220113-19-14yu4a4.jpg?ixlib=rb-1.1.0&rect=101%2C14%2C1895%2C1302&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Freezing and storing sperm vials has proved easier than regulating artificial insemination.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/news-photo/lab-technician-jessica-kenyon-puts-sperm-vials-into-liquid-news-photo/1290396268">MediaNews Group/Boston Herald via Getty Images</a></span></figcaption></figure><p>When Wendy and Janet Norman decided to have a baby, they went sperm shopping through Xytex Corp., a <a href="https://www.mayoclinic.org/tests-procedures/sperm-donation/about/pac-20395032">sperm bank</a>.</p>
<p>The couple chose Donor #9623. Xytex, the Normans later claimed, told them the man <a href="https://www.gpb.org/news/2020/09/28/georgia-supreme-court-rules-sperm-donor-case-falls-in-line-consumer-fraud">spoke multiple languages</a> and was <a href="https://www.gasupreme.us/wp-content/uploads/2020/09/s19g1486.pdf">pursuing a doctorate</a>.</p>
<p>Xytex had also assured them that it carefully screened all donors by reviewing their family health history and criminal records and that it subjected donors to intensive physical exams and interviews to <a href="https://www.gasupreme.us/wp-content/uploads/2020/09/s19g1486.pdf">verify the information</a>.</p>
<p>But after Wendy Norman gave birth to a son in 2002, the couple learned their child had inherited a genetic blood disorder for which Wendy was not a carrier. He would, much later, require extended hospitalizations because of suicidal and homicidal thoughts.</p>
<p>Even later, they learned that the donor, James Christopher Aggeles, had <a href="https://scholar.google.com/scholar_case?case=2684447592603399491&hl=en&as_sdt=6&as_vis=1&oi=scholarr">lied to the sperm bank</a> about his background and that the sperm bank had not verified the information he provided. Nor did it make him supply his medical records or sign a release that would have made it possible to obtain them.</p>
<p>As <a href="https://www.law.virginia.edu/faculty/profile/nrc8g/2915359">law professors</a> who study <a href="https://www.law.gwu.edu/sonia-m-suter">reproductive technology</a>, we see this case and others like it as showing why the government should tighten regulations over sperm and egg donation so that prospective parents and <a href="https://doi.org/10.1093/hropen/hoaa057">donor-conceived adults</a> receive accurate and complete details about their donors’ medical, academic and criminal history. </p>
<h2>A ‘wrongful birth’?</h2>
<p>Aggeles wasn’t pursuing an advanced degree when he began donating sperm. He didn’t even have a college degree at that point. He also failed to disclose his diagnosis of <a href="https://www.mayoclinic.org/diseases-conditions/schizophrenia/diagnosis-treatment/drc-20354449">schizophrenia</a>, a severe mental health condition requiring lifelong treatment. Schizophrenia has a <a href="https://www.healthline.com/health/is-schizophrenia-hereditary">high level of heritability</a> in families. He had also been arrested at the time of his donation and was later <a href="https://scholar.google.com/scholar_case?case=2684447592603399491&hl=en&as_sdt=20000006&as_vis=1">incarcerated for burglary</a>.</p>
<p>When the Normans sued Xytex, a local court initially dismissed <a href="https://scholar.google.com/scholar_case?case=2684447592603399491&hl=en&as_sdt=6&as_vis=1&oi=scholarr">almost all claims in</a> their case. They appealed to Georgia’s Supreme Court, which in 2020 <a href="https://www.gasupreme.us/wp-content/uploads/2020/09/s19g1486.pdf">allowed several of their claims to go forward</a>. </p>
<p>The Normans could, for instance, seek financial compensation, partly to cover the additional expenses they might have avoided had they learned about the donor’s medical history sooner. The court also told the Normans they could try to recover the price difference between what they paid for the sperm they received and <a href="https://www.nytimes.com/2021/01/08/business/sperm-donors-facebook-groups.html">its market value</a>.</p>
<p>Finally, the Normans were allowed to allege under the state’s <a href="https://law.justia.com/codes/georgia/2010/title-10/chapter-1/article-15/part-2/">Fair Business Practice Act</a> that the sperm bank had misrepresented to the public the quality of its sperm and its screening process.</p>
<p>The Supreme Court of Georgia did not, however, permit the couple to sue over what is known as a “<a href="https://lawdigitalcommons.bc.edu/jlsj/vol34/iss2/8/">wrongful birth</a>” claim. These claims are negligence actions brought by parents based on the birth of a child with disabilities or genetic disorders because of a provider’s failure to identify the risk.</p>
<p>The case is still pending.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Blue-tinted sperm swim in a liquid." src="https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/440478/original/file-20220112-25-14gowjp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Screening sperm donors is often limited to seeing if they have communicable diseases.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/illustration/human-sperm-royalty-free-illustration/674416385">Sebastian Kaulitzki/Science Photo Library</a></span>
</figcaption>
</figure>
<h2>Limited regulation</h2>
<p>The Normans’ lawsuit is hardly unique.</p>
<p>Other families have <a href="https://www.nytimes.com/2012/05/15/health/in-sperm-banks-a-matrix-of-untested-genetic-diseases.html">sued sperm banks</a> after having donor-conceived children who wound up with a variety of <a href="https://www.riverfronttimes.com/newsblog/2019/02/08/st-louis-dad-sues-sperm-bank-after-baby-is-born-with-genetic-disorder">genetic disorders</a>.</p>
<p>In many of those cases, the sperm banks said they routinely test sperm and exclude donors who could pass along genes that cause genetic diseases. In those instances, the families have grounds for accusing the sperm banks of fraud and negligence.</p>
<p>Some <a href="https://apnews.com/article/lifestyle-technology-health-new-york-lawsuits-3c4280eb72f05f9b5f33238b0b608da6">donor-conceived adults</a> are also <a href="https://www.voiceofsandiego.org/topics/news/dna-testing-is-unearthing-local-fertility-fraud-cases/">suing doctors</a> who lied to the plaintiffs’ parents about <a href="https://apnews.com/article/a86db8b20d5a36213dfbb169a5a031fe">whose sperm</a> they were receiving and instead <a href="https://apnews.com/article/lifestyle-technology-health-new-york-lawsuits-3c4280eb72f05f9b5f33238b0b608da6">used their own</a>. Several states now ban this kind of “<a href="https://khn.org/news/conceived-through-fertility-fraud-she-now-needs-fertility-treatment/">fertility fraud</a>.” </p>
<p>This <a href="https://www.wsj.com/articles/a-grieving-family-wonders-what-if-they-had-known-the-medical-history-of-sperm-donor-1558-11641119405">litigation is on the rise</a> because of the growing popularity of direct-to-consumer DNA testing, which makes it <a href="https://www.cbsnews.com/news/woman-finds-sperm-donor-after-using-dna-test-raising-questions-about-donor-anonymity/">easier to identify previously anonymous</a> sperm donors and to learn about genetic risks donor-conceived people may have inherited from them. </p>
<p>It’s also happening because of the <a href="https://www.nytimes.com/2021/02/01/health/sperm-donor-fertility-meijer.html">absence of clear rules and laws regulating</a> sperm banks. There is <a href="https://theconversation.com/the-fertility-industry-is-poorly-regulated-and-would-be-parents-can-lose-out-on-having-children-as-a-result-163792">little regulation of reproductive technologies</a> of any kind, including in <a href="https://theconversation.com/40-years-after-the-birth-of-ivf-researchers-push-boundaries-to-preserve-fertility-in-women-men-and-children-99485">vitro fertilization</a>, a procedure that fertilizes the egg with sperm in the laboratory instead of the body, at the state or federal level.</p>
<p>Because the <a href="https://dx.doi.org/10.1016%2Fj.fertnstert.2019.05.031">government does not track artificial insemination</a>, the number of donor-conceived people is unknown.</p>
<p>The federal government requires only that donated sperm and eggs be treated like other human tissue and <a href="https://www.fda.gov/vaccines-blood-biologics/tissue-tissue-products/donor-eligibility-final-rule-and-guidance-questions-and-answers">tested for communicable diseases</a> – <a href="https://www.dhs.wisconsin.gov/disease/communicable.htm">infectious conditions</a> that spread through viruses, bacteria and other means – but not genetic diseases.</p>
<p>There are also <a href="https://ilr.law.uiowa.edu/print/volume-106-issue-2/dr-i-dont-want-your-baby-why-america-needs-a-fertility-patient-protection-act/">no federal requirements</a> that sperm banks obtain and verify information about a donor’s medical history, educational background or criminal record.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/yGAktL45XNQ?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">The movie ‘Delivery Man’ revolves around what happens when a sperm bank uses a single donor’s sperm to make hundreds of babies.</span></figcaption>
</figure>
<h2>What is the basis for these lawsuits?</h2>
<p>The allowable grounds for fertility negligence vary by state.</p>
<p>Some states let families sue clinics that <a href="https://casetext.com/case/paretta-v-med-offices-for-human-reproduction">fail to screen donors</a>, even when the parents seek damages associated with the birth of the child with a dangerous genetic condition. This would essentially allow a wrongful birth claim to go forward.</p>
<p>But a growing number of states, at least 14 so far, <a href="https://faculty.westacademic.com/Book/Detail?id=320412">prohibit such claims</a>. That is leading many courts, like the Supreme Court of Georgia, to define the injury as distinct from the birth of the donor-conceived child.</p>
<h2>The end of anonymity</h2>
<p>One complication in terms of resolving these disputes is that <a href="https://dx.doi.org/10.1093%2Fjlb%2Flsw052">most sperm donations are anonymous</a>.</p>
<p>At odds with the donor’s interest in keeping their his identity a secret, we argue, are <a href="https://repository.law.umich.edu/mjgl/vol16/iss1/4/">donor-conceived people’s strong interests</a> in learning about their donors, including their medical, educational and criminal history – and <a href="https://scholarlycommons.law.hofstra.edu/hlr/vol42/iss4/3">even identity</a>.</p>
<p>DNA tests, including direct-to-consumer kits like 23andMe, are rendering <a href="https://pubmed.ncbi.nlm.nih.gov/28697325/">donor anonymity impossible to maintain</a>. And internet searches, as the Normans discovered, can make it possible to see whether a donor, once identified, has misrepresented their personal information.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/RixlpHKfb6M?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">The movie ‘The Kids Are All Right’ hinged on the complications that can arise when a family gets to know a sperm donor.</span></figcaption>
</figure>
<h2>States are beginning to set rules</h2>
<p>Because Congress has taken <a href="https://www.cdc.gov/art/nass/policy.html">no action regarding assisted reproductive technology since 1992</a>, states have slowly begun to step in.</p>
<p>In 2011, Washington required the disclosure of <a href="https://app.leg.wa.gov/RCW/default.aspx?cite=26.26A.820">donor-identifying information and medical history when a child turns 18</a>. </p>
<p>On Jan. 1, 2022, Connecticut enacted the <a href="https://www.uniformlaws.org/HigherLogic/System/DownloadDocumentFile.ashx?DocumentFileKey=e4a82c2a-f7cc-b33e-ed68-47ba88c36d92&forceDialog=0">Uniform Parentage Act</a>, which is based on model legislation drafted by a national nonpartisan commission to fill widespread legislative gaps. The measure requires that fertility clinics <a href="https://www.cga.ct.gov/2021/act/pa/pdf/2021PA-00015-R00HB-06321-PA.pdf">collect identifying information from donors</a> and indicate whether donors have agreed to disclosure.</p>
<p>Another pending measure in <a href="https://www.nysenate.gov/legislation/bills/2021/s7602">New York</a> would require sperm and egg donor banks “to collect and verify medical, educational and criminal felony conviction history information” from any donor. That legislation would also provide prospective parents who purchase eggs or sperm and donor-conceived people with the right to obtain such information without personally identifying the donor. This option could make it possible to preserve donor anonymity, at least theoretically.</p>
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<p>The bill was drafted at least partially in response to the experience of Laura and David Gunner, <a href="https://www.wsj.com/articles/a-grieving-family-wonders-what-if-they-had-known-the-medical-history-of-sperm-donor-1558-11641119405">whose donor-conceived son died of an opioid overdose</a>. After their son’s death, the Gunners learned that a few years earlier, the donor himself had died and that he had been diagnosed with schizophrenia. The donor had not disclosed his mental illness or hospitalizations for behavioral issues.</p>
<h2>Costs are not a barrier</h2>
<p>It’s possible that measures like the one pending in New York state would make fertility treatment somewhat more expensive.</p>
<p>Currently, a vial of donor sperm may <a href="https://www.marketplace.org/2019/10/24/the-cost-of-building-a-family-using-donor-sperm/">cost close to $1,000</a>, with the <a href="https://www.marketplace.org/2019/10/24/the-cost-of-building-a-family-using-donor-sperm/">donor often being paid up to $150</a>.</p>
<p>Genetic testing, however, might not add much to the cost because it would only be done once, rather than each time a patient obtains a vial of sperm. With artificial insemination, it’s <a href="https://www.verywellfamily.com/donor-insemination-4685684">rare for a pregnancy to occur on the first or second try</a>.</p>
<p>As we learned from <a href="https://www.adoptionnetwork.org/news-events/archive.html/article/2021/03/25/adoption-network-cleveland-supports-fertility-fraud-legislation">Tyler Sniff</a>, an advocate for the New York bill and a director of the nonprofit <a href="https://www.dcc-usa.org/2021/11/14/what-donors-need-to-know/">U.S. Donor Conceived Council</a>, DNA testing companies offer relatively inexpensive options that can cost less than $300. </p>
<p>To be sure, disclosure requirements might overpromise how much <a href="https://www.wsj.com/articles/a-grieving-family-wonders-what-if-they-had-known-the-medical-history-of-sperm-donor-1558-11641119405">prospective parents can learn about their future children</a>. But we are certain that <a href="https://bioethics.umn.edu/news/who-am-i-ethics-sperm-and-egg-donation">these issues will become even more critical</a> as technology continues to outpace its regulation – and as both <a href="https://www.wearedonorconceived.com/">donor-conceived adults</a> and an increasing number of people who used sperm banks advocate for their interests.</p><img src="https://counter.theconversation.com/content/174389/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Many people are filing lawsuits after discovering that sperm banks failed to verify information from donors about their medical and personal backgrounds.Naomi Cahn, Professor of Law, University of VirginiaSonia Suter, Professor of Law, George Washington UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1485822020-11-22T09:13:02Z2020-11-22T09:13:02ZHow South Africans can use their DNA to be good genomic citizens<figure><img src="https://images.theconversation.com/files/366407/original/file-20201029-19-1qhonhh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Direct-to-consumer genetic testing can help scientific researchers.</span> <span class="attribution"><span class="source">Andrey_Popov/Shutterstock</span></span></figcaption></figure><p>In the past few years, people have become fascinated with using their DNA to learn more about themselves, their origins, family trees, predisposition to health conditions and quirky traits. This has been enabled by the rise in popularity and the relative affordability of direct-to-consumer ancestry testing in places like the US. This testing allows people to swab their mouths to collect cells containing DNA, which are then sent off to companies for testing and analysis.</p>
<p>Today sites like AncestryDNA, 23andMe, MyHeritage and FTDNA dominate the European and US markets. But until recently, this service has been inaccessible to most South Africans. That’s because testing using overseas companies can be expensive, and there are logistical hurdles to shipping sample collection kits into and out of South Africa.</p>
<p>Recently, local companies like <a href="https://dnalysis.co.za/">DNAnalysis</a> and <a href="https://www.behappytobeyou.co.za/">Be Happy To Be You</a> have started to offer genetic testing, ranging from ancestry to nutrigenetics (what your genes say you should and should not eat) and health screenings.</p>
<p>Many potential clients are, however, sceptical about using these services. They view them as sub-standard and more expensive than some of the larger, overseas competitors. There are also concerns regarding privacy.</p>
<p>So, is supporting local businesses – and getting your DNA analysed – worth it? My opinion, as a human population geneticist who <a href="https://link.springer.com/article/10.1007/s00438-020-01684-8">has researched</a> the role that extensive genetic testing can play in mapping diseases, is “yes”. As more clients choose a local service provider for direct-to-consumer testing, the accuracy of the service will increase, the costs will decrease and the resulting data generation can be used to boost medical research efforts.</p>
<h2>Addressing concerns</h2>
<p>The process of completing a direct-to-consumer ancestry test is fairly simple. When you visit a site and request a test, you will be required to sign a consent form, fill in your personal information (contact details and address) and then wait for your test kit to be couriered to you. This kit is used to swab the inside of your mouth. The swabs are then sent back to the company for further processing, which involves extraction of your DNA and then computational analysis. An ancestry report is generated by comparing your genetic data to data of other worldwide populations.</p>
<p>But what of people’s concerns around accuracy, cost and privacy?</p>
<p>Firstly, there is no evidence that the services offered by local companies are sub-par. In fact, they should be more accurate because of the context in which the data is analysed. Local companies will have databases of South African data that other overseas companies do not. For example, instead of containing two different southern African populations (in line with overseas companies), local companies might have 10 and therefore be able to provide more detailed, granular reports.</p>
<p>Furthermore, scientists who work in local companies have acquired local knowledge and are therefore able to work with South Africa’s unique genetic diversity better than anyone else.</p>
<p>Secondly, testing in South Africa is for the most part not more expensive than overseas. If South Africans use an overseas company, they’ll generally have to pay for courier fees to get a sample collection kit delivered and sent back to the company as well as potentially paying import taxes. There’s also a risk that the sample collection kit might get held up or even lost in either direction of the courier process. This may add to the overall cost. </p>
<p>Typically the price for direct-to-consumer ancestry testing in the US is between $69 and $99. Adding approximately R800 (around $50) for courier charges brings the cost for an international test to between R1,900 and R2,400, compared to between R1,000 and R2,499 locally (courier fees included). And, as more and more people start using local resources, the products and services will become cheaper over time.</p>
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<a href="https://theconversation.com/what-weve-learnt-from-building-africas-biggest-genome-library-126293">What we've learnt from building Africa's biggest genome library</a>
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<p>With regard to data privacy, confidentiality and anonymity, South Africa has some of the strictest laws that govern personal data, particularly the <a href="https://www.gov.za/documents/protection-personal-information-act?gclid=CjwKCAjw0On8BRAgEiwAincsHOOlBCOVBQmw8rQLAoK0h-YyOTbs_Zlytr-Qe3CouEWwnaAKXFN5LxoCrScQAvD_BwE">Protection of Personal Information Act</a>. All local companies are required to adhere to this.</p>
<p>There is another aspect South Africans should consider when they’re thinking about using local services for genomic testing: the importance of creating a genomic citizenship movement.</p>
<h2>Benefits for all</h2>
<p>When you send your DNA to a direct-to-consumer genetic testing company, you are investing in a product and service that benefits others. By making your de-identified genetic data available for use in local companies’ databases and for research purposes, you directly contribute to scientific development by increasing the accuracy of these services for other clients and in some cases, for yourself and for your family members. </p>
<p>Scientific researchers can use that de-identified data to investigate, for instance, why some individuals get sick and others don’t. An example of this has been seen during the COVID-19 pandemic. Genetic data from direct-to-consumer genetic testing has been used <a href="https://www.medrxiv.org/content/10.1101/2020.09.04.20188318v1">to investigate how the disease progresses</a> and why some patients are asymptomatic while others succumb to the disease. This was made possible by individuals who allowed researchers to use their genetic data for this purpose.</p>
<p>Over time, with an expansion of genetic data, it will be possible to diagnose patients with genetic diseases that would not have been diagnosed otherwise. Scientists will be able to answer questions regarding the efficacy of medications in some patients and speed up the development of gene therapies that could save countless lives.</p>
<p>The rise of direct-to-consumer services is an opportunity for South Africans to contribute, in their own way, to a greater genomic future.</p><img src="https://counter.theconversation.com/content/148582/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Caitlin Uren consults for private individuals as well as for Artisan Biomed, the company that owns Be Happy To Be You. </span></em></p>Scientists who work in local companies have acquired local knowledge and are therefore able to work with South Africa’s unique genetic diversity better than anyone else.Caitlin Uren, Postdoctoral research fellow, Stellenbosch UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1286742019-12-22T10:53:12Z2019-12-22T10:53:12ZDNA database sold to help law-enforcement crack cold cases<figure><img src="https://images.theconversation.com/files/308020/original/file-20191219-11939-15ikayv.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C7452%2C5065&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Individuals who upload their DNA test results to databases may not have much control over how it's used. </span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>During the Christmas season, genetic genealogy companies offer discounts on testing kits. We should be increasingly concerned <a href="https://theconversation.com/dna-tests-make-fun-holiday-gifts-but-beware-of-the-hype-127607">not only about the accuracy of the tests</a> but also about giving the gift that gives away all the family DNA. </p>
<p>On Dec. 9, 2019, genealogists using GEDmatch, a free online tool that compares DNA test results, were surprised to find out that the genealogy database had been bought by Verogen, a company that manufactures forensic lab instruments for law enforcement.</p>
<p>The road to this purchase started last spring when genealogists who had uploaded their data to GEDmatch found out detectives <a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">had mined their data to crack a cold case</a>. </p>
<p>The phenomenon of solving cold cases using free DNA data provided by the generous sharing instincts of genealogists quickly got taken up as a for-profit venture. Almost 100 cold-cases <a href="https://www.nytimes.com/2019/04/25/us/golden-state-killer-dna.html">have been solved</a> by a combination of genetic and genealogical sleuthing — and some surreptitious sampling by police officers. </p>
<p>Tissues, coffee cups, straws and cigarette butts are rich sources of discarded DNA. Tracking down the cold cases of cold-blooded killers has been a triumph for law enforcement — a miracle for long-suffering families — but it is also a privacy nightmare. </p>
<p><a href="https://www.wired.com/story/dna-crime-solving-is-still-new-yet-it-may-have-gone-too-far/">Two controversial cases</a> made users and observers wonder about the limits of police intrusion.</p>
<h2>Privacy and police intrusion</h2>
<p>The whole point of genetic genealogical testing is to trace your lost biological kin and 800 or so genetic relatives. DNA on its own isn’t very useful; it’s the identified family trees of those genetic relations that are so valuable. </p>
<p>GEDmatch was a database with fewer privacy provisions and thus more relative matches than commercial testing companies. That lax privacy policy was precisely the appeal to family historians who generously shared their genealogical and genetic data.</p>
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Read more:
<a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">How cops used a public genealogy database in the Golden State Killer case</a>
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<p>To catch the Golden State Killer, police detectives created a fake profile and uploaded cold-case DNA tests. No one was the wiser until the case broke. The founders of the site, Curt Rogers and John Olson, passionate genealogists themselves, were as surprised as their users. They reacted with confusion. Their side hobby had just taken a very unanticipated turn.</p>
<p><a href="https://www.nytimes.com/2018/10/15/science/gedmatch-genealogy-cold-cases.html">Rogers told <em>The New York Times</em>:</a>, “It’s kind of been a shock to all of us how these things developed: all of a sudden, all this notoriety.” His co-founder agreed, “I feel like I’m on a high-speed ride with no way to steer.” </p>
<p>Users reacted negatively to the use of their personal bio-data — and the data of all of their genetic relatives — without their consent. So, GEDmatch changed its privacy policy several times. </p>
<p>At first, GEDmatch, in a hurried disclaimer, defensively warned its users that their data was indeed unprotected and could be used by anyone. Some genealogists (particularly on social media) gleefully declared that they were delighted to help catch criminal relations, invoking the “I’ve got nothing to hide” line of genetic privacy ignorance. </p>
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<img alt="" src="https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=469&fit=crop&dpr=1 600w, https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=469&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=469&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=589&fit=crop&dpr=1 754w, https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=589&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/308022/original/file-20191219-11946-1xxb07g.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=589&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">DNA tests are winding up under the tree at Christmas.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
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<p>But, faced with enough informed outrage, GEDmatch tightened its privacy policy. First they tried limiting police searches to violent crimes and cold-cases, but then <a href="https://www.buzzfeednews.com/article/peteraldhous/genetic-genealogy-parabon-gedmatch-assault">bent their own rules</a>. After the ensuing anger, they then they gave users the choice to <a href="https://web.archive.org/web/20190612170606/https://www.gedmatch.com/tos.htm">opt-out of police searches</a>.</p>
<p>Out of the more than 1.3 million people using GEDmatch, only 200,000 agreed to have their profiles made available for criminal searches. Having effectively killed the usefulness of the database for law enforcement, <a href="https://www.nytimes.com/2019/11/05/business/dna-database-search-warrant.html">the Orlando Police Department obtained a warrant in November that overruled any and all of GEDmatch’s privacy promises</a>. </p>
<p>Users were ambushed once again. It turned out that GEDmatch had very little privacy control. </p>
<p>As Debbie Kennett, an associate researcher at University College London, wrote: <a href="https://www.sciencedirect.com/science/article/pii/S0379073819302014?via%3Dihub">“The technology has advanced faster than our ability to introduce safeguards</a>.”</p>
<h2>Verogen promises</h2>
<p>After the CEO of Verogan, Brett Williams, courted GEDmatch and promised his company could strengthen the privacy protections of the database, Rogers and Olsen decided to cash out. The details of the deal have not been made publicly available. </p>
<p>Once again, genealogical information collected for and by genealogists has been sold. It’s happened time and again in the genealogy industry and each time genealogists react with surprise and dismay. But then they acquiesce, often then paying for access to their own donated data. </p>
<p>Reactions have run the gambit this time as well. </p>
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Read more:
<a href="https://theconversation.com/dna-tests-make-fun-holiday-gifts-but-beware-of-the-hype-127607">DNA tests make fun holiday gifts, but beware of the hype</a>
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<p>Some users immediately deleted their accounts. Others have declared their criminal relations better watch out. </p>
<p>Verogen’s Williams is hoping that his message will prevail. In a recent phone call, he said: “Public safety and public privacy are not mutually exclusive.”</p>
<p>Fighting rumours that the database would now be even more accessible to law enforcement, Rogers sent a reassuring to GEDmatch subscribers: “Verogen recognizes that law enforcement use of genetic genealogy is here to stay and is in a better position to prevent abuses and protect privacy than GEDmatch ever could have done on its own.” </p>
<p>William’s plan is to enhance the database to attract more civic-minded genealogists with advanced data analysis and a social media opt-in campaign. At the same time, Verogen is committed to fighting warrants and to restricting the amount of sensitive information that police can access, such as disease markers. </p>
<p>Williams is hoping that with his ethical stewardship, GEDmatch will preserve its original purpose while allowing Verogen to offer a seamless service to law enforcement. The database will still be public, but Verogan says it will now know how best to mine it. </p>
<p>As with all social media sites, genealogists and their family trees have become the product. Perhaps there are better ways to foster family this year than to gift away your genetic relatives, as criminal as you think they might be.</p>
<p><em>This is a corrected version of an article originally published on Dec. 22, 2019. The earlier story said the warrant for data was obtained by the FBI instead of the Orlando Police Department.</em></p>
<p>[ <em><a href="https://theconversation.com/ca/newsletters?utm_source=TCCA&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=expertise">Expertise in your inbox. Sign up for The Conversation’s newsletter and get a digest of academic takes on today’s news, every day.</a></em> ]</p><img src="https://counter.theconversation.com/content/128674/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Julia Creet receives funding from the Social Sciences and Humanities Council of Canada and the Office of the Privacy Commissioner of Canada.</span></em></p>Can the new owner of GEDmatch ,a genealogy database preserve its original purpose while allowing a seamless service to law enforcement?Julia Creet, Professor of English, York University, CanadaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1276072019-12-12T20:55:55Z2019-12-12T20:55:55ZDNA tests make fun holiday gifts, but beware of the hype<figure><img src="https://images.theconversation.com/files/306462/original/file-20191211-95125-1ozel3z.jpg?ixlib=rb-1.1.0&rect=114%2C175%2C4136%2C2640&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Direct-to-consumer genetic tests are not an accurate source of health information. Users should also consider the future privacy implications of sharing their genetic data. </span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>You’ve likely heard about <a href="https://ghr.nlm.nih.gov/primer/dtcgenetictesting/directtoconsumer">direct-to-consumer DNA testing kits</a>. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including <a href="https://www.washingtonpost.com/news/true-crime/wp/2018/04/27/golden-state-killer-dna-website-gedmatch-was-used-to-identify-joseph-deangelo-as-suspect-police-say/">identifying the Golden State Killer in California</a>. </p>
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<figcaption><span class="caption">A DNA test features in the lyrics of Lizzo’s Truth Hurts.</span></figcaption>
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<p>Even if you don’t find a DNA testing kit under your own Christmas tree, there’s a good chance someone you know will. </p>
<p>Whether you’re motivated to learn about your health or where your ancestors came from, it is important to understand how these tests work — before you spit in the tube. </p>
<p>While exciting, there are things that these genetic testing kits cannot tell users — and important personal implications that consumers should consider. </p>
<h2>Health, traits and ancestry kits</h2>
<p>My main area of research is around clinical genome sequencing, where we look through all of a person’s DNA to help diagnose diseases. With a PhD in genetics, I often get questions from friends and family about which direct-to-consumer genetic test they should buy, or requests to discuss results. Most questions are about two types of products: ancestry and health kits. </p>
<p>The most popular ancestry kit is from <a href="https://www.ancestry.ca/dna/">AncestryDNA</a>. These kits are aimed at giving users insight into where their ancestors might be from. They can also connect users with family members who have used the service and have opted into having their information shared. Another option is <a href="https://livingdna.com/ca/">Living DNA</a>, which has a smaller dataset but provides more precise information on the U.K. and Ireland.</p>
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<img alt="" src="https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/306460/original/file-20191211-95115-1o78hsv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">A direct-to-consumer DNA testing kit.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
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<p>The most <a href="https://www.23andme.com/en-ca/">popular health kit is from 23andMe</a>. Depending on the user’s preference, results include information on predispositions for diseases such as diabetes and Alzheimer’s, as well as on the likelihood of having certain traits such as hair colour and taste. This company also offers ancestry analysis, as well as ancestry and trait-only kits that don’t provide health information. The kit offered by the newer <a href="https://www.myheritage.com/">MyHeritage DNA</a> also provides a combined ancestry and health option.</p>
<p>There are other kits out there claiming to evaluate everything from <a href="https://www.statnews.com/2016/11/03/genetic-testing-fitness-nutrition/">athletic potential</a> to <a href="https://www.marsdd.com/news/instant-chemistry-relationship-genetic-testing/">relationship compatibility</a>. But gift-buyers beware: for most of these, in contrast to those above, the evidence is seriously lacking.</p>
<h2>How these tests work</h2>
<p>For all of these tests, customers receive a kit in the mail. The kits contain instructions for collecting a saliva sample, which you mail back to the company for analysis. </p>
<p>During this analysis, these popular tests do not look at the entire genome. Instead, they employ <a href="https://www.nature.com/articles/nmeth0508-447">single nucleotide polymorphism (SNP) genotyping</a>. As humans <a href="https://www.genome.gov/about-genomics/fact-sheets/Genetics-vs-Genomics">we all share 99.9 per cent of our DNA</a>. SNPs are essentially what is left: all of the points at which we can differ from our neighbour, making us unique. SNP genotyping looks at a subset of these sites to “survey” the user’s genome.</p>
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Read more:
<a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">How cops used a public genealogy database in the Golden State Killer case</a>
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<p>These SNPs are then compared to reference datasets of individuals with known conditions or ancestry. Most results are based on the SNPs shared with a given group. For example, if your results say that you are 42 per cent Southeast Asian, it’s because 42 per cent of your SNPs were most likely to have come from a group in the reference dataset labelled “Southeast Asian.” The same goes for traits and health conditions. </p>
<h2>How they differ from clinical tests</h2>
<p>Direct-to-consumer genetic tests are not a substitute for clinical assessment. The methods used differ dramatically from what is done to diagnose genetic diseases. </p>
<p>In a clinical setting, when suspicion of a genetic condition is high, entire genes are often analyzed. These are genes where we understand how changes in the DNA cause cellular changes that can cause the disease. Furthermore, clinical assessment includes <a href="https://doi.org/10.2217/pme-2017-0001">genetic counselling that is often key to understanding results</a>.</p>
<p>In contrast, findings from direct-to-consumer genetic tests are often just statistical links; there is commonly no direct disease-causing effect from the SNPs. </p>
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Read more:
<a href="https://theconversation.com/how-the-genomics-health-revolution-is-failing-ethnic-minorities-86385">How the genomics health revolution is failing ethnic minorities</a>
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<p>Users may interpret a result as positive, when the <a href="https://www.nature.com/articles/gim201838">risk increase is only minimal, or entirely false</a>. These tests can also give false reassurance because they do not sequence genes in their entirety and <a href="https://www.nytimes.com/2019/04/16/health/23andme-brca-gene-testing.html">can miss potentially harmful variants</a>. </p>
<h2>Before you spit in a tube, stop and think</h2>
<p>These tests are exciting: they introduce new audiences to genetics and get people thinking about their health. They’re also helping to build vast genetic databases from which <a href="https://www.the-scientist.com/news-analysis/the-rising-research-profile-of-23andme-30564">medical research will be conducted</a>. </p>
<p>But for individual users, there are important caveats to consider. Recent reports have questioned the accuracy of these tests: <a href="https://www.cbc.ca/news/technology/dna-ancestry-kits-twins-marketplace-1.4980976">identical twins can receive different results</a>. Furthermore, <a href="https://theconversation.com/how-the-genomics-health-revolution-is-failing-ethnic-minorities-86385">a lack of diversity in the reference data</a> has caused particular concern regarding accuracy of results for ethnic minorities. </p>
<p>There are also concerns about the way these tests <a href="https://policyoptions.irpp.org/magazines/march-2018/direct-consumer-genetic-testing-reifying-race/">emphasize racial categories that science considers to be social constructs and biologically meaningless</a>.</p>
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<figcaption><span class="caption">Professor Tim Caulfield shares concerns about the way race is presented in the marketing of DNA tests.</span></figcaption>
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<p>A <a href="https://www.bmj.com/content/367/bmj.l5688">recent paper in the <em>British Medical Journal</em></a> suggests four helpful questions for users to consider. First, users should ask themselves why they want the test. If it is to answer a medical question, then they should speak with their doctor. Users should also think about how they might feel when they receive results containing information <a href="https://theconversation.com/do-you-really-want-to-know-whats-lurking-in-your-genome-72988">they would rather not know</a>.</p>
<p>Users should also consider <a href="https://www.cbc.ca/news/canada/edmonton/dna-testing-1.4632272">issues around security and privacy</a>. It is important to read the fine print of the service you’re using, and determine whether you’re comfortable sharing personal information, now and in the future. </p>
<p>In Canada, policies around genetics have not always kept up with the science. At present, <a href="https://www.cma.ca/sites/default/files/2018-11/cma-policy-direct-to-consumer-genetic-testing-pd17-05-e.pdf">direct-to-consumer genetic testing is unregulated</a>. And, although Canadians have <a href="https://laws-lois.justice.gc.ca/eng/acts/G-2.5/index.html">legislative protections against genetic discrimination</a>, those laws are being <a href="https://www.cbc.ca/news/health/genetic-non-discrimination-act-challenge-quebec-1.4658432">challenged in the courts</a>, and could change. </p>
<p>Finally, it may also be worth discussing DNA testing with relatives. We share half of our genome with our immediate family members, and smaller fractions with more distant relatives. Genetic results not only affect us, but our family. </p>
<h2>Bottom line: It’s all for fun</h2>
<p>Some users may feel they learn more about themselves. For others, results may bring people closer together — not a bad outcome for the holiday season. </p>
<p>At the end of the day, these genetic testing kits are for entertainment: they should not be used to assess health risk in any meaningful way. </p>
<p>If you have any questions related to your health or a genetic disease, discuss these with your family doctor or a suitable health-care professional. </p>
<p>[ <em><a href="https://theconversation.com/ca/newsletters?utm_source=TCCA&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=thanksforreading">Thanks for reading! We can send you The Conversation’s stories every day in an informative email. Sign up today.</a></em> ]</p><img src="https://counter.theconversation.com/content/127607/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Michael Mackley does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>DNA testing kits will be a popular gift this holiday season. Before mailing off your saliva, it’s important to understand what these kits can and cannot tell us.Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1265222019-11-25T19:09:43Z2019-11-25T19:09:43Z‘Gay gene’ testing apps aren’t just misleading – they’re dangerous<figure><img src="https://images.theconversation.com/files/303383/original/file-20191125-74542-ncnb0u.jpg?ixlib=rb-1.1.0&rect=39%2C0%2C8635%2C5774&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">No, a DNA swab can't tell you if you're gay, or likely to be obese, or depressed. And it can be damaging to believe so.</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>The launch of a genetic app titled “How gay are you?” prompted a well-deserved outcry from scientists and the public last month, with media coverage branding it “<a href="https://thenextweb.com/apps/2019/10/15/disgusting-dna-app-falsely-claims-it-can-tell-how-gay-you-are/">disgusting</a>” and “<a href="http://inmagazine.ca/2019/10/the-latest-bad-idea-an-app-that-tells-you-how-gay-you-are/">the latest bad idea</a>”.</p>
<p>The app, which has since been withdrawn from sale, was just one of many available from online app store <a href="https://www.geneplaza.com/">GenePlaza</a>. Billing itself as “a marketplace for genetic reports”, this site offers a wide range of genetic tests that promise to reveal unassailable truths about your sleep, health, neuroses, ancestors, and even your intellect.</p>
<p>The genes tested in each “genetic app” are sourced from scientific reports that have established links between particular genetic variants and particular traits. But the tests are not directly affiliated with the scientists or their studies, and the interpretation and communication of the data produced by the apps is done solely by the developers.</p>
<h2>The science behind the test</h2>
<p>“How gay are you?” used data from a <a href="https://science.sciencemag.org/content/365/6456/eaat7693">paper</a> published earlier this year in the prestigious journal Science, showing that sexual orientation has a significant genetic component. According to the research, 8-25% of same-sex sexual behaviours can be accounted for by leafing through a few specific pages of the (very) lengthy book that represents your personal genome. </p>
<p>Sexual orientation is complex – thought to be the product of many genes, as well as environmental effects. Although certain gene variants are weakly related to same-sex attraction, the authors of this paper took pains to point out that <a href="https://theconversation.com/gay-gene-search-reveals-not-one-but-many-and-no-way-to-predict-sexuality-122459">genetics cannot be used to predict sexual orientation</a>.</p>
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Read more:
<a href="https://theconversation.com/gay-gene-search-reveals-not-one-but-many-and-no-way-to-predict-sexuality-122459">'Gay gene' search reveals not one but many – and no way to predict sexuality</a>
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<p>So what use is a genetic test if it can’t predict individual differences? Not much, most scientists think. </p>
<p>Benjamin Neale, an author on the paper from which the genetic data was derived, <a href="https://www.nature.com/articles/d41586-019-03282-0">sent a letter to GenePlaza</a> asking it to take down the app. A <a href="https://www.change.org/p/geneplaza-remove-dtc-genetic-test-how-gay-are-you-from-geneplaza-marketplace">change.org petition</a> to remove the test has attracted around 1,700 signatures. “How gay are you?” now appears on GenePlaza under the name “122 shades of gray”, is no longer available for purchase, and carries a disclaimer stating that it does not predict same-sex attraction and is not associated with the authors of the Science study.</p>
<h2>Genetic explanation and sexuality</h2>
<p>These tests are not just useless, but potentially dangerous. Information about the genetic basis of traits can have profound effects on the way we understand ourselves and others. </p>
<p>For sexual orientation, the impacts of genetic information seem mixed. One <a href="https://www.tandfonline.com/doi/abs/10.1080/00926239908403984?casa_token=mjjX9WP3DLsAAAAA:6kHKKqENqgyuFp1_0RXc5waO3X9btJWZt1d3oxkILB0QM4mIQQfP3n9N4LjcKkrCSE99k95u6rPOIJM">study</a> reported that learning about a biological basis for homosexuality increased anti-gay attitudes, whereas another <a href="https://journals.sagepub.com/doi/abs/10.2466/pr0.1992.71.3f.1219?casa_token=j_JOMB4AkPQAAAAA%3ARIngsyn8OvsDeSQNk8oxkQT4iCH8jrnL7_S3UMAiAEFrx6oPQkNYgPIeD50Yha0KUnKAVn7zhxVfEXI&">found the opposite</a>. </p>
<p>Although many people who identify as homosexual <a href="https://10daily.com.au/views/a190901gmcqu/the-no-gay-gene-study-terrifies-me-20190902">endorse a genetically determined view</a>, among sexual minorities this belief seems to be a double-edged sword. Gay men who perceive their sexuality as biological are <a href="https://psycnet.apa.org/record/2015-18254-001">more certain about their sexual identity, but also view themselves as more different from heterosexuals and in turn experience more self-stigma</a>. </p>
<p>For heterosexual and LGBT populations alike, more research is needed to know what psychological effects the results of genetic tests of this kind might have. </p>
<h2>Self-fulfilling prophecy</h2>
<p>For some other traits, it is already clear that belief in a genetic basis has a negative effect. Women given biological explanations of gender differences are more likely to hold <a href="https://www.tandfonline.com/doi/full/10.1080/15298860600980185?casa_token=x2mSzl4hF1kAAAAA%3AI_OrRWHHLs1xHF4gYsL6x_BP_lez4y3M5KeH4S11xO8_p40xN7Fmx2dAIbUn2TyOWMXEqhNo34OMtqE">negative self-stereotypes</a>. In one study, women who were informed that women have genetically inferior mathematical ability went on to <a href="https://science.sciencemag.org/content/314/5798/435">perform relatively poorly on a maths test</a>. </p>
<p>This suggests that even if there is no genetic basis for a behaviour or ability, receiving a genetic explanation can become a self-fulfilling prophecy. GenePlaza itself offers a <a href="https://www.geneplaza.com/app-store/70/preview">Math Ability</a> app, which promises to tell you how you stack up against the rest of humanity.</p>
<p>Obesity has also been shown to be affected by how we think about genes. Even the most common gene variant associated with obesity only explains a <a href="https://link.springer.com/article/10.1007/s13679-015-0143-1">tiny fraction</a> of the variability between individuals. Despite this, a whole cottage industry has sprouted to offer “genetically tailored” diets. </p>
<p>Not surprisingly, GenePlaza offers a <a href="https://www.geneplaza.com/app-store/53/preview">My Weight</a> app, with the tagline “can genes determine the size of your jeans?” The answer is possibly yes, albeit via your brain. </p>
<p>Learning that obesity has a genetic basis leads people to <a href="https://www.sciencedirect.com/science/article/abs/pii/S0195666317309807">discount the importance of exercise and a healthy diet</a>. In <a href="https://www.sciencedirect.com/science/article/abs/pii/S0195666314003572">one study</a>, participants given information about a link between genes and obesity ate more cookies than those who read a non-genetic explanation. </p>
<p>Perhaps most concerning is GenePlaza’s <a href="https://www.geneplaza.com/app-store/68/preview">Depression App</a>, which uses data from a <a href="https://www.nature.com/articles/s41588-018-0090-3?_ga=2.222013656.112907065.1541203200-2059058911.1541203200">2018 Australian study</a> to provide information about one’s genetic risk of depression (although it does feature a disclaimer that its results are “not a diagnosis, a prediction, or a predisposition score”). </p>
<p>Social psychologists have shown that when people are told they have a predisposition to depression they are <a href="https://link.springer.com/article/10.1007/s10897-017-0140-5">less confident in their ability to cope</a>, and even <a href="https://psycnet.apa.org/record/2017-48283-003">remember more depressive episodes</a> in their recent past.</p>
<p>Belief in a genetic basis to mental illness not only affects our self-perception, but our attitudes to others too. When thought to be genetically based, people are <a href="https://journals.sagepub.com/doi/abs/10.1177/002076409904500309?casa_token=9SDeL934DNsAAAAA:zcxwDIUuYtgvD3KcCjcX37bss5UT6SLo-EXnkfK28mdsD0mTK2Ume28X3UAuwiLnYvqiZr7idWy-3g">more negative</a> towards those with a mental illness and more likely to <a href="https://www.sciencedirect.com/science/article/abs/pii/S0277953613004164">perceive them as dangerous</a>. </p>
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Read more:
<a href="https://theconversation.com/gene-testing-for-the-public-a-way-to-ward-off-disease-or-a-useless-worry-79757">Gene testing for the public: a way to ward off disease, or a useless worry?</a>
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<p>These apps are marketed as a curiosity or as harmless fun. But there is danger in claiming to be able to use genetics to predict any aspect of someone’s identity, abilities, mental health or sexual orientation. Misunderstanding of genetic information can have grave consequences for those receiving it.</p><img src="https://counter.theconversation.com/content/126522/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Kate Lynch receives funding from The John Templeton Foundation and the Australian Research Council. </span></em></p><p class="fine-print"><em><span>Ilan Dar-Nimrod receives/received funding from the Australian Research Council and The John Templeton Foundation. </span></em></p><p class="fine-print"><em><span>James Morandini receives funding from The John Templeton Foundation</span></em></p>Genetic apps claim to reveal fundamental insights about your health, well-being, and even intellect. But it’s not just spurious science - believing these traits are genetic can have harmful consequences.Kate Lynch, Postdoctoral Research Fellow, University of SydneyIlan Dar-Nimrod, Senior lecturer, University of SydneyJames Morandini, Postdoctoral fellow, University of SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1227812019-09-08T19:59:31Z2019-09-08T19:59:31ZWill the genetic screening of athletes change sport as we know it?<p>Since the first mapping of the human genome there has been interest in understanding which genetic factors underpin performance in sport. </p>
<p>With the rise of genetic testing among athletes, it remains to be seen exactly how the world of elite sport will be affected. </p>
<p>Last year the Chinese Ministry of Science and Technology <a href="https://www.newsweek.com/china-begin-using-genetic-testing-select-olympic-athletes-1099058">revealed</a> China will use genetic testing on its athletes ahead of the 2022 Winter Olympics, incorporating it into the official athlete selection process. </p>
<p>Concerns are mounting as the falling cost of genetic testing lead to worldwide interest in commercialising it. This is resulting in more <a href="http://pilarmartinescudero.es/2017%20en-mar/Genetic%20testing%20for%20sport%20perfomance.%20Practical%20and%20ethical%20considerations.pdf">direct-to-consumer</a> tests being offered, without input from medical practitioners or genetic counselling. </p>
<p>Critics of these services worry about the quality controls of the genetic analyses and interpretation of results. They argue the services could lead to significant misinformation which could negatively impact an athlete’s sporting future. </p>
<h2>A specialised approach</h2>
<p>Two <a href="https://journals.lww.com/mejmedgen/Fulltext/2012/07000/Genetic_polymorphism_studies_in_humans.1.aspx">gene variants</a> are commonly linked with sports performance. These are ACE II (associated with endurance athletes) and ACTN3 RR (associated with sprinters and power athletes). </p>
<p>While there is strong evidence these genes are related to sports performance, there’s little evidence that an individual’s sporting performance capacity can be <a href="https://theconversation.com/born-to-win-top-athletes-dont-share-a-single-talent-gene-but-hundreds-of-them-43816">predicted</a> based on genes.</p>
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Read more:
<a href="https://theconversation.com/athletic-ability-and-genetics-can-science-spot-a-sure-fire-winner-7991">Athletic ability and genetics: can science spot a sure-fire winner?</a>
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<p>This is because sport is complex and very few sports are classified as solely a sprint, power or endurance sport. Also, many factors underpin athletic success including a broader variety of genetic traits and physical, environmental and psychological elements. All of these work in concert to impact overall performance. </p>
<p>That said, a knowledge of genetic predispositions is a potentially <a href="https://bjsm.bmj.com/content/bjsports/53/18/1141.full.pdf">valuable tool</a> for understanding individual responses to exercise training. </p>
<p>It’s possible understanding the relationships between genes and individual training responses can be used to better <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207597">individualise athlete training programs</a>. </p>
<p>A <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207597">paper published this year</a> reported those with particular gene variants linked to aerobic training adaptations showed greater training responsiveness after eight weeks of targeted training. </p>
<p>Therefore, genetic testing could potentially be used to personalise an athlete’s training program and improve the efficiency and results of training processes. </p>
<h2>The ethical considerations</h2>
<p>The debate over whether genetic testing of athletes actually works has been around for some time, especially regarding recruitment and selection programs. </p>
<p>Many are worried its use to determine sporting potential will pose a significant challenge to the <a href="https://www.olympic.org/the-ioc/promote-olympism">spirit of the Olympics</a> and similar contests.</p>
<p>In 2015 researchers examined the available literature on direct-to-consumer genetic testing for sports performance and talent identification, and published a <a href="https://bjsm.bmj.com/content/49/23/1486.long">consensus statement</a>. This was followed by the Australian Institute of Sport’s <a href="https://bjsm.bmj.com/content/51/1/5.long">2016 Position Stand</a>.</p>
<p>In these documents, genetics experts suggest no child or young athlete should have their training altered or be talent-spotted based on direct-to-consumer genetic testing. This is due to concerns around a lack of evidence-based interpretation of results, which may give aspiring athletes incorrect advice about their suitability for a sport. </p>
<p>Because of the complex nature of sports performance, the authors of the AIS Position Stand suggest genetic testing should never be used for inclusion or exclusion in a talent-identification program. They say the “use of genetic phenotypes as an absolute predictor of athletic prowess or sport selection is unscientific and unethical”.</p>
<p>In 2003 the Australian Law Reform Commission and National Health and Medical Research Council <a href="https://www.alrc.gov.au/publication/essentially-yours-the-protection-of-human-genetic-information-in-australia-alrc-report-96/executive-summary-2/">recommended</a> discrimination laws be amended to make it illegal to discriminate on a person’s real or perceived genetic status. </p>
<p>The fact is, there is great potential for genetic testing to result in discrimination.</p>
<h2>Keeping up with the inevitable</h2>
<p>A <a href="https://www.termedia.pl/The-current-use-and-opinions-of-elite-athletes-and-support-staff-in-relation-to-genetic-testing-in-elite-sport-within-the-UK,78,30816,0,1.html">study</a> published last year examining elite sport in the United Kingdom found that most athletes and support staff surveyed weren’t aware of genetic testing for sport performance (92%) or injury risk assessment (91%). </p>
<p>When sport support staff were asked if they would consider genetic testing of their athletes, most were interested in the relationship between genetics and performance (61%) and injury susceptibility (78%). When asked whether testing should be used as a talent-identification tool, 51% of support staff were less willing to consider it. </p>
<p>Nonetheless, several nations are turning to genetic testing to determine athletic potential. In 2014 it was revealed <a href="https://www.theatlantic.com/international/archive/2014/02/uzbekistan-is-using-genetic-testing-to-find-future-olympians/283001/">Uzbekistan is also using genetic testing</a> as a tool for finding future Olympians. </p>
<p>There are concerns more countries will follow suit and this could lead Olympic sport down a slippery slope, or even encourage <a href="https://www.businessinsider.com.au/wada-test-rio-olympic-athletes-gene-doping-2016-8">gene doping</a> programs.</p>
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Read more:
<a href="https://theconversation.com/explainer-what-is-gene-doping-and-will-any-athletes-at-rio-2016-have-tried-it-63230">Explainer: what is gene doping – and will any athletes at Rio 2016 have tried it?</a>
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<p>To ensure a future in which we harness genetic testing while not compromising on fairness in sport, we must further research the benefits of knowing how genetics relate to human performance and injury risk. And we should apply this knowledge to enhance training processes. </p>
<p>The future should’t be in excluding individuals from sport but in finding ways to use genetics to precisely prescribe athletes’ training programs. This will help them chase their unique sporting dreams while remaining true to the Olympic spirit.</p><img src="https://counter.theconversation.com/content/122781/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>G. Gregory Haff does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Genetic testing could help us build targeted and effective training routines for athletes, but the emerging science could also introduce opportunity for discrimination in the sporting world.G. Gregory Haff, Professor of Strength and Conditioning, Edith Cowan UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1222202019-08-23T12:48:42Z2019-08-23T12:48:42ZAlzheimer’s: carriers of risk gene show brain changes in their 20s – here’s why we shouldn’t worry<figure><img src="https://images.theconversation.com/files/289065/original/file-20190822-170956-1sa2xi3.jpg?ixlib=rb-1.1.0&rect=215%2C89%2C5434%2C3485&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/hand-holding-paper-sheet-human-head-1221758086?src=RalI55W7sS9L68EwXctKvQ-1-5">StunningArt/Shutterstock</a></span></figcaption></figure><p>Dramatic developments in genetics research and the availability of commercial genetics tests have put us in a very modern predicament – we can now find out (quickly, easily and cheaply) whether we <a href="https://theconversation.com/sequencing-your-genome-is-becoming-an-affordable-reality-but-at-what-personal-cost-36720">personally hold genetic risk factors</a> that put us at a substantially increased risk of Alzheimer’s disease. In addition, we have <a href="https://www.sciencedirect.com/science/article/pii/S0197458018303348">recently shown</a> that brain changes can be identified in people holding these genetic risk variants as early as 20 years old.</p>
<p>Should we be testing ourselves? Should we worry? No. Here’s why:</p>
<p>Genetic research has revealed that some individuals carry variants of specific genes that confer an increased risk of developing <a href="https://youtu.be/wfLP8fFrOp0">Alzheimer’s disease</a> in later life. For example, carriers of the ε4 variant of the APOE gene are approximately <a href="https://www.ncbi.nlm.nih.gov/pubmed/8346443">three to eight times</a> more likely to be diagnosed with Alzheimer’s disease after age 60 than individuals without this variant. The more variants, the greater the risk – with a maximum of one inherited from each parent.</p>
<p>In our <a href="https://www.sciencedirect.com/science/article/pii/S0197458018303348">recent research</a>, we looked at these genetic factors in young people (around 20 years old, on average). We split them into “higher-risk” and “lower-risk” groups depending on whether they did or did not carry the APOE-ε4 gene variant, respectively.</p>
<p>Using <a href="https://www.sciencedirect.com/science/article/pii/S001094520800110X?via%3Dihub">advanced brain imaging techniques</a>, we were able to show that it is possible to detect subtle differences in particular brain networks for the “higher-risk” young adults, several decades before any clinical symptoms of Alzheimer’s emerge.</p>
<p>While <a href="https://www.sciencedirect.com/science/article/pii/S0197458018303348">brain structure</a> and <a href="https://www.nature.com/articles/srep16322">function</a> were significantly different between the risk groups on average, it is very important to point out that not all “higher-risk” individuals go on to develop Alzheimer’s disease. (Note that we say “higher” not “high” risk.)</p>
<p>The brains of many of these individuals were comparable to those at lower risk. This means carrying a higher-risk gene variant does not necessarily lead to early brain changes, or an Alzheimer’s diagnosis <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148649/">later in life</a>.</p>
<h1>Should I get tested?</h1>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/289070/original/file-20190822-170951-k65352.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Oral swaps and saliva samples are used by Direct To Consumer commercial genetic tests.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/young-woman-putting-ear-stick-into-446399410?src=9EmiICl3YxqNCikbeGBPhg-1-7">B-DSPiotrMarcinsk/Shutterstock</a></span>
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<p>Public interest in genetics and gene testing is <a href="https://www.statista.com/chart/17023/commercial-genetic-testing/">booming</a>. Recent times have also seen highly publicised incidences of people responding to their own genetic risk with drastic interventions. For instance, Angelina Jolie, who <a href="https://theconversation.com/angelina-jolie-pitts-surgery-is-just-one-option-for-women-at-risk-of-cancer-39329">has a faulty copy of the BRCA1 gene</a>, associated with breast cancer – and <a href="https://scienceblog.cancerresearchuk.org/2013/05/14/angelina-jolie-inherited-breast-cancer-and-the-brca1-gene/">had elective surgery</a> to remove both breasts and some of her reproductive organs. </p>
<p>“Direct to consumer” genetic testing kits sold by companies now provide people with convenient and affordable access to their personal genetic information, including their genetic risk for specific diseases, including Alzheimer’s.</p>
<p>But the relatively low cost of these tests reflects the fact that they typically only cover a fraction of the genome. The results, therefore, neglect the contribution of the rest of the consumer’s genetic code. This will include other genes with protective, as well as negative, effects.</p>
<p>Of other concern, these tests have been shown to frequently generate false positive results: indeed, <a href="https://www.nature.com/articles/gim201838">one study found</a> approximately 40% of variants in a variety of genes reported in raw commercial genetic test data were false positives. This could lead to unnecessary distress, treatment and lifestyle adjustments. These tests also come with <a href="https://theconversation.com/were-not-prepared-for-the-genetic-revolution-thats-coming-96574">privacy and social concerns</a>.</p>
<p>On the upside, the popularity of commercial genetic testing partly reflects consumers’ positive desire to be proactive about their health. Consumers concerned about commercial genetic test findings should, however, request confirmatory tests from their clinician. These consumers should also understand that the disease risk reports they have purchased <a href="https://theconversation.com/genetic-home-testing-why-its-not-such-a-great-guide-to-your-ancestry-or-disease-risk-79604">at best provide a partial answer</a> to the question they are trying to address, because disease risk is about much more than genetics alone.</p>
<h1>I am at ‘higher’ risk of Alzheimer’s – what now?</h1>
<p>The next step for our research is to find out what leads some people at “higher-risk” to go on to develop these early brain changes, but not others. Do these people exercise or sleep less, maintain a poorer diet, or have poorer social relationships? Many possible answers involve lifestyle factors that could potentially be altered to “buffer” individuals against their genetic risk.</p>
<p>The only way to properly understand which lifestyle factors may have such a protective effect, is to study large numbers of people with varying degrees of genetic risk over several decades.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/289068/original/file-20190822-170935-14g1d9z.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Can lifestyle factors like reading, exercise and socialising protect us from our genetic risks as we age?</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/old-father-reading-newspaper-his-son-407783782?src=x4nybLT4uGKUNNhWfSncQA-1-4">RomanSamborskyi/Shutterstock</a></span>
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<p>We are part of an international team of scientists undertaking one such study, led by Professors <a href="https://www.cardiff.ac.uk/people/view/151224-graham-kim">Kim Graham</a> and <a href="https://www.cardiff.ac.uk/people/view/357091-lawrence-andrew">Andrew Lawrence</a> at Cardiff University. The project involves collecting advanced brain imaging and cognitive test data from a large group of approximately 240 young adults. These individuals are part of a <a href="http://www.bristol.ac.uk/alspac/participants/">cohort</a> that has been studied since birth, so we can access a wealth of retrospective health and lifestyle data.</p>
<p>Smaller, isolated studies looking at lifestyle factors might currently be missing the big picture. Brain differences have been <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583203/">found</a> in these high risk groups between people who do and don’t exercise regularly. This could suggest exercise has a <a href="https://content.iospress.com/articles/journal-of-alzheimers-disease/jad091531">protective effect</a> on the brain, and may in turn mitigate Alzheimer’s risk. It could also be that exercisers engage in other “protective” behaviours like <a href="https://www.tandfonline.com/doi/abs/10.1586/ern.11.56">eating a healthier diet</a>. It is only with large-scale cohort studies that we can begin to disentangle the genetic and lifestyle contributions to cognitive performance, the brain and Alzheimer’s risk.</p>
<p>Finally, if you are considering making lifestyle changes to offset your “genetic risk” for Alzheimer’s, taking regular exercise and maintaining a healthy lifestyle is seldom bad advice. Other drastic lifestyle changes, however, are likely unjustified.</p><img src="https://counter.theconversation.com/content/122220/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Dr Mark Postans is currently supported by funding from the Medical Research Council (grant MR/N01233X/1; awarded to Professor Kim Graham at Cardiff University)</span></em></p><p class="fine-print"><em><span>Carl J Hodgetts receives funding from Wellcome.</span></em></p>Scientists explain why commercial gene testing should be used with caution.Mark Postans, Postdoctoral research associate, Cardiff UniversityCarl Hodgetts, Research Fellow in Cognitive Neuroscience, Cardiff UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1206642019-08-21T19:54:02Z2019-08-21T19:54:02ZShould I get my DNA tested? We asked five experts<figure><img src="https://images.theconversation.com/files/285222/original/file-20190723-11350-1ud463r.jpg?ixlib=rb-1.1.0&rect=0%2C2%2C1000%2C651&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Is it worthwhile to know you're 25% Irish? </span> <span class="attribution"><span class="source">from www.shutterstock.com</span></span></figcaption></figure><p>With the advent of online ancestry DNA testing, and advancements in genetic screening for various medical aliments, we’re able to know more than ever about the genes that make us who we are. </p>
<p>But is there a point to knowing we’re 25% Irish? And is there a point to knowing we could one day be struck down with a disease we’re unable to prevent? </p>
<p>We asked five experts if we should consider a DNA test.</p>
<h2>Four out of five experts said yes</h2>
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<img alt="" src="https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=99&fit=crop&dpr=1 600w, https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=99&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=99&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=125&fit=crop&dpr=1 754w, https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=125&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/259889/original/file-20190220-148520-121cdzg.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=125&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<p><strong><em>Here are their detailed responses:</em></strong></p>
<p><iframe id="tc-infographic-427" class="tc-infographic" height="400px" src="https://cdn.theconversation.com/infographics/427/45901c723a843d0a712aa7bdf2ed8f27399293a3/site/index.html" width="100%" style="border: none" frameborder="0"></iframe></p>
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<p><em>If you have a “<strong>yes or no</strong>” health question you’d like posed to Five Experts, email your suggestion to: alexandra.hansen@theconversation.edu.au</em></p>
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<img alt="" src="https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=501&fit=crop&dpr=1 754w, https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=501&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/210303/original/file-20180314-113452-h7un11.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=501&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<p><em>None of the authors have any interests or affiliations to declare.</em></p><img src="https://counter.theconversation.com/content/120664/count.gif" alt="The Conversation" width="1" height="1" />
We asked five experts if DNA testing was worthwhile. Four out of five said yes.Alexandra Hansen, Deputy Editor and Chief of Staff, The Conversation AUNZLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1180192019-07-12T12:05:55Z2019-07-12T12:05:55ZDNA testing companies offer telomere testing – but what does it tell you about aging and disease risk?<figure><img src="https://images.theconversation.com/files/279839/original/file-20190617-118526-1vzymuy.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A telomere age test kit from Telomere Diagnostics Inc. and saliva
collection kit from 23andMe.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/seattle-usa-july-6-2017-new-672722578?src=n_CtwFbEEZev1k4RH8-TdA-1-59&studio=1">Anna Hoychuk/Shutterstock.com</a></span></figcaption></figure><p>Over the past few years direct-to-consumer genetic tests that extract information from DNA in your chromosomes <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">have become popular</a>. Through a simple cheek swab, saliva collection or finger prick, companies offer the possibility of learning more about your family tree, ancestry, or risk of developing diseases such as Alzheimer’s or even certain cancers. More recently, <a href="https://doi.org/10.1038/embor.2011.166">some companies</a> offer tests to measure the tips of chromosomes, called telomeres, to learn more about aging.</p>
<p>But what exactly are telomeres, what are telomere tests, and what are companies claiming they can tell you? Age based on your birthday versus your “telomere age”?</p>
<p>Telomeres play a big role in keeping our chromosomes and bodies healthy even though they make up only a tiny fraction of our total DNA. The Greek origins of the word telomere describes where to find them. “Telo” means “end” while “mere” means “part.” Telomeres cap both ends of all 46 chromosomes in each cell, and protect chromosomes from losing genetic material. They are often compared to the plastic tips at the ends of shoelaces that prevent fraying.</p>
<p><a href="http://www.opreskolab.com">We are</a> <a href="https://www.publichealth.pitt.edu/home/directory/patricia-opresko">molecular</a> <a href="https://www.jefferson.edu/university/jmc/departments/biochemistry/faculty-staff/faculty/elise.html">biologists</a> studying how chemicals, agents from the environment and metabolism damage telomeres and affect their lengths and function, and how damaged telomeres affect the health of our cells and genome. The idea of offering telomere length as part of a genetic test is intriguing since telomeres protect our genetic material. But equating telomere length with something as complex as aging struck us as tricky and overly simplistic. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=300&fit=crop&dpr=1 600w, https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=300&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=300&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=377&fit=crop&dpr=1 754w, https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=377&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/279837/original/file-20190617-118539-130f0e2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=377&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Telomeres get shorter with each round of cell division.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/telomere-shortening-each-round-cell-division-708788029?studio=1">Kateryna Kon/Shutterstock.com</a></span>
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<h2>Link between telomere length and human diseases</h2>
<p>Telomeres are important for human health and despite their protective function, they are not indestructible. Telomeres shorten every time a cell divides and shorten progressively as we age.</p>
<p>When telomeres become too short or lost, the chromosome tips are left unprotected and become sticky. This can cause chromosomes to fuse. To prevent further chromosome shortening and fusions, the cells enter senescence, a state in which they can no longer divide. Although they lose the ability to rejuvenate tissues, senescent cells can still promote inflammation and secrete factors that favor growth of nearby pre-cancerous or cancerous cells.</p>
<p>Unfortunately, our lifestyle can actually accelerate the shortening. Environmental exposures such as sunlight, air pollution, cigarette smoke and even inflammation or poor diet can damage cell components, including DNA. They do this by generating unstable oxygen molecules, or free radicals. Telomeres are particularly susceptible to damage by free radicals. </p>
<p>In collaboration with chemist <a href="https://www.cmu.edu/bio/people/faculty/bruchez.html">Marcel Bruchez</a>, we developed a new tool that damages only the telomeres. Using this tool we discovered that oxidative damage to telomeres is sufficient to not only accelerate their shortening but also to cause <a href="https://doi.org/10.1016/j.molcel.2019.04.024">telomere loss</a>. </p>
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<iframe width="440" height="260" src="https://www.youtube.com/embed/9gxogiUvVkk?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">Our study shows oxidative damage to telomeres directly causes shortening.</span></figcaption>
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<p>In previous laboratory experiments, scientists found that eliminating senescent cells from mice led to the <a href="https://doi.org/10.1038/nature10600">delay or prevention of diseases and conditions</a> associated with aging including heart disease, diabetes, osteoporosis and lung fibrosis. This has led to the <a href="https://doi.org/10.1111/jgs.14969">pursuit of new drugs called senolytics</a> that could eliminate senescent cells in humans.</p>
<h2>Is longer better?</h2>
<p>Since short telomeres cause cells to senesce, this makes them interesting targets for healthy, disease-free aging. Also, since telomeres shorten with age, regardless of exposure to toxins this led to the notion that telomere length may provide information about a person’s “true” biological age. </p>
<p>Commercial tests typically measure telomere lengths or amounts of telomeric DNA in a blood sample. Companies compare your telomeres to telomeres from people of similar age to try to determine the biological age of your blood cells. </p>
<p>However, just as individuals of the same age vary in height and weight, so do telomeres. If a child falls in the 40th percentile for height, this means compared to 100 girls her age she is taller than 40. For this reason, charts similar to growth charts for children have been generated for telomeres. </p>
<p>Individuals with telomere lengths below the first percentile are at risk for developing specific diseases including anemia, immunodeficiency and pulmonary fibrosis, <a href="https://doi.org/10.1016/j.gde.2015.06.004">likely due to a gene mutation that impairs telomere maintenance</a> </p>
<p>At the other extreme, individuals with <a href="https://doi.org/10.1016/j.gde.2015.06.004">gene mutations that lead to very long telomeres</a> above the 99th percentile are at greater risk for developing inherited forms of melanoma and brain cancers. Longer telomeres allow a cell to divide more times, and with every division there is a chance that an error during genome duplication produces a mutation that promotes cancer. In a way, telomeres follow the Goldilock’ principle. Telomeres that are too short or too long are not optimal.</p>
<h2>Can telomere length predict health outcomes?</h2>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/279847/original/file-20190617-118535-1tn0rfh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Exercise and a healthy diet are associated with longer telomeres.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/senior-couple-on-cycle-ride-countryside-180842051?src=yfmTSGPVrotvd6dZz9Vo8Q-1-46&studio=1">Monkey Business Images/Shutterstock.com</a></span>
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<p>But what about telomere lengths in between the extremes? Large studies involving hundreds to thousands of participants show general associations of shorter telomeres with <a href="https://doi.org/10.1161/CIRCGENETICS.113.000485">increased risk for some diseases of aging, including heart disease</a>, whereas <a href="https://doi.org/10.1001/jamaoncol.2016.5945">longer telomeres are associated with increased risk for some types of cancers</a>. </p>
<p>But translating these population studies to predictions about individual life spans and health is difficult. For example, as a group, men are taller than women, but that does not mean all men are taller than women. Similarly, some people with shorter telomeres do not develop heart disease in these population studies. More studies are needed to fully understand what an individual’s telomere length means for their health and aging. </p>
<p>While large population studies show a healthy diet is associated with longer telomeres, published reports about specific supplements <a href="https://doi.org/10.1016/j.metabol.2015.11.004">that claim to support telomere health are lacking.</a></p>
<p>If such a product could extend telomeres, would it be safe? Or would it increase one’s risk for developing cancer due to long telomeres? Can protecting telomeres or slowing their shortening promote disease-free aging? We do not have the answers to these questions yet.</p>
<p>Given the uncertainty and risk of wrong interpretation, should you have your telomeres measured? Maybe, if the results motivate healthy lifestyle changes. For now, a surer bet for healthy aging would be to spend the money on exercise programs and nutritious foods instead. </p>
<p>[ <em><a href="https://theconversation.com/us/newsletters?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=expertise">Expertise in your inbox. Sign up for The Conversation’s newsletter and get a digest of academic takes on today’s news, every day.</a></em> ]</p><img src="https://counter.theconversation.com/content/118019/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Patricia Opresko receives funding from the National Institutes of Health. </span></em></p><p class="fine-print"><em><span>Elise Fouquerel receives funding from National Institutes of Health. </span></em></p>Genetic testing companies are offering tests that analyze the ends of your chromosomes – telomeres – to gauge your health and your real age. But is there scientific evidence to support such tests?Patricia Opresko, Professor of Environmental and Occupational Health, University of PittsburghElise Fouquerel, Assistant Professor of Biochemistry and Molecular Biology, Thomas Jefferson UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1192312019-07-01T19:40:25Z2019-07-01T19:40:25ZGenetic risk tests are now widely available, but they aren’t always useful – and could even be harmful<figure><img src="https://images.theconversation.com/files/281939/original/file-20190701-105168-zpvq3c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Polygenic risk scores currently account for only a small proportion of your total genetic risk.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/digital-blue-dna-texture-innovation-medicine-750726223?src=TzhHsrLnu3qElvHEQANGqA-1-22&studio=1">Shutterstock</a></span></figcaption></figure><p>Genetic testing used to be something that happened in a specialist clinic for those few families that had serious inherited conditions, like <a href="https://en.wikipedia.org/wiki/Huntington's_disease#Predictive_genetic_testing">Huntington’s Disease</a> or rare cancers. </p>
<p>Now, new genetic tests called “polygenic risk scores” have increased access to genetic risk information for a wide range of conditions. With a few clicks of a mouse and a few hundred dollars, anyone can access their or their genetic risk scores for diabetes, obesity, breast cancer, autism, and schizophrenia. </p>
<p>These scores aren’t always useful, and, in some cases, they could be harmful.</p>
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<a href="https://theconversation.com/explainer-what-is-genetic-risk-25969">Explainer: what is genetic risk?</a>
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<h2>Results can be misleading</h2>
<p>Previous approaches to genetic testing looked at just one gene for which particular mutations are known to cause a disease. The newer technology of polygenic risk scores are calculated from hundreds, if not thousands, of genetic markers measured from your DNA at many points on the genome. These measurements are fed into a formula, based on studying people who do or do not have a condition, to produce a “personalised” genetic risk score. </p>
<p>While researchers are looking at how these tests might be used by doctors to <a href="https://care.diabetesjournals.org/content/42/2/200">predict type 1 diabetes in newborns</a>, or <a href="https://doi.org/10.1371%2Fjournal.pmed.1002546">prescribe the right medications</a> for people with heart disease, companies like <a href="https://www.technologyreview.com/s/613095/23andme-thinks-polygenic-risk-scores-are-ready-for-the-masses-but-experts-arent-so-sure/">23andme are forging ahead</a> with products that offer polygenic risk scores for diabetes and other conditions to their customer base of <a href="https://thednageek.com/23andme-has-more-than-10-million-customers/">over 10 million</a>. As these are classified as “<a href="https://www.fda.gov/regulatory-information/search-fda-guidance-documents/general-wellness-policy-low-risk-devices?source=govdelivery&utm_medium=email&utm_source=govdelivery">general wellness</a>” products by US regulators, they can be provided without medical support. </p>
<p>Before we jump wholeheartedly into the new world of genetic health and medicine, it’s important to consider the implications for patients and clinicians, and especially for consumers outside the clinic. Even if risk scores incorporate information from many different genes, there are two things they currently miss. </p>
<p>First, polygenic risk scores currently account for only a small proportion of a person’s total genetic risk. Second, environmental risk factors are also important, and likely multiply the risks associated with genetic factors. A genetic risk score alone can give a misleading picture of your actual disease risk. </p>
<h2>They can be inaccurate</h2>
<p>There are questions about the <a href="https://www.nature.com/articles/s41436-018-0418-5">accuracy of the genetic scores</a>. Scores are calculated using past research into genetic associations with a particular condition. That is, the gene variants that are more commonly seen in people with the disease. </p>
<p>But knowing what gene variants are more common in people with a disease is different to knowing what gene variants will predict that someone without the disease will get it later in life. While more research is needed to develop genetic tests that are useful for predicting complex chronic diseases, some companies are forging ahead with genetic risk products of doubtful accuracy.</p>
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Read more:
<a href="https://theconversation.com/can-a-genetic-test-predict-if-you-will-develop-type-2-diabetes-113343">Can a genetic test predict if you will develop Type 2 diabetes?</a>
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<p>Companies marketing genetic risk scores might use their <a href="https://www.mdpi.com/2073-4425/10/6/448?type=check_update&version=1">own specific formula</a> drawing on different published data to generate the risk predictions they return to their consumers. This means that one person could submit their samples to multiple companies and have different – and sometimes conflicting – results returned to them. </p>
<p>Some consumers of genetic ancestry tests know this well, as results from the same company drastically change when they <a href="https://www.smh.com.au/national/time-to-get-that-viking-tattoo-removed-ancestry-updates-dna-results-20190426-p51hmh.html">update their formulas</a>. </p>
<p>In rare cases, the results of genetic testing can be plain wrong, with distressing consequences. One woman had her breasts surgically removed to reduce her risk of breast cancer after receiving a genetic test result that <a href="https://www.huffpost.com/entry/brca-genetic-testing-mastectomy_n_5c6c39fbe4b012225acd80d3">turned out to be incorrect</a>. </p>
<p>In addition, the <a href="https://www.nature.com/articles/gim2014169">jury is still out</a> on whether knowing you are at an increased genetic risk for something will lead to a decrease in your risk of developing the condition. There is evidence from <a href="https://www.ncbi.nlm.nih.gov/pubmed/28785835">research on depression</a>, for example, that suggests knowing you are genetically at risk may hinder rather than help recovery. </p>
<h2>Testing could increase health disparities</h2>
<p>Even if the predictive power of a particular genetic risk score is beyond doubt, it may only be accurate for a minority of the population who have only European ancestors. </p>
<p>About 80% of the data used to derive the scores have come from studies of people of <a href="https://www.nature.com/articles/s41588-019-0394-y">European descent</a> (who account for only 16% of the world’s population). </p>
<p>So these scores might be less accurate for people from other backgrounds. If these new tools are applied to improve health for people of European ancestry, they could actually <a href="https://www.nature.com/articles/s41588-019-0379-x">increase health disparities</a>. </p>
<h2>The ethics of ‘designer babies’</h2>
<p>All these issues are compounded if the person buying the test is a prospective parent seeking to select an embryo for implantation. </p>
<p>Within the clinical setting, pre-implantation genetic testing – used in tandem with IVF – can help parents who want to ensure their future child does not develop a serious genetic disease that runs in their family. But some companies are now offering to calculate polygenic risk scores that allow prospective parents to <a href="https://www.genengnews.com/insights/polygenic-risk-scores-and-genomic-prediction-qa-with-steven-hsu/">select embryos</a> that have a lower risk score for diabetes, heart disease, cancer, short stature or low intelligence irrespective of the family history. </p>
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Read more:
<a href="https://theconversation.com/your-genes-can-help-predict-how-well-youll-do-in-school-heres-how-we-cracked-it-62848">Your genes can help predict how well you'll do in school – here's how we cracked it</a>
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<p>These products raise serious and wide-ranging <a href="http://ewanbirney.com/2019/05/why-embryo-selection-for-polygenic-traits-is-wrong.html">scientific and ethical</a> concerns. Researchers have questioned whether selecting embryos on the basis of these tests will actually <a href="https://www.biorxiv.org/content/10.1101/626846v1">produce the outcomes parents might expect</a>. Others have raised broader concerns about the long term effects of <a href="https://www.technologyreview.com/s/612258/are-we-designing-inequality-into-our-genes/">embedding inequities in our genes</a>. </p>
<p>National agencies that regulate the use of these emerging technologies will need to tread carefully when considering how polygenic risk scores could be used in embryo selection. </p>
<p>For now, more research is required to improve the accuracy of polygenic risk scores, to assess their appropriate use outside of the clinical setting, and to work out how to best support consumers who may find themselves in an uncertain position. </p>
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<p><em>The authors will be discussing this issue at the <a href="https://www.eventbrite.com.au/e/emerging-issues-in-science-and-society-tickets-61910795857">Emerging Issues in Society and Society</a> symposium on July 2.</em></p><img src="https://counter.theconversation.com/content/119231/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Emma Kowal receives funding from the Australian Research Council and the National Health and Medical Research Council. She is on the Expert Advisory Committee of the Genomics Health Futures Mission. She leads the Deakin Science and Society Network and is a member of the Deakin University Gen(e)quality Research Network. The authors acknowledge the useful feedback received from John Hopper and Bob Williamson on this piece. </span></em></p><p class="fine-print"><em><span>Jacqueline Savard has received funding from the Inspiring Australia - Science Engagement Programme and the Australian Research Council.</span></em></p><p class="fine-print"><em><span>Jeffrey Craig receives funding from the National Health and Medical Research Council, the Australian Research Council, the Cerebral Palsy Alliance, and the Waterloo Foundation. He is President of the International Society for Twin Studies, and leads the Deakin University Gen(e)quality Research Network.</span></em></p>Most common chronic diseases are the outcome of complex interactions between genetic, environmental and social risk factors, so a genetic risk score, on its own, isn’t much help.Emma Kowal, Professor of Anthropology, Deakin UniversityJacqueline Savard, Lecturer in Health Ethics and Professionalism, Deakin UniversityJeffrey Craig, Associate Professor in Medical Sciences, Deakin UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1182482019-06-13T15:06:03Z2019-06-13T15:06:03ZConsumer genetic testing customers stretch their DNA data further with third-party interpretation websites<figure><img src="https://images.theconversation.com/files/279263/original/file-20190613-32366-zjc6n.jpg?ixlib=rb-1.1.0&rect=432%2C122%2C3462%2C2370&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">If you've got the raw data, why not mine it for more info?</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/dna-helix-abstract-background-on-tablet-147238940">Sergey Nivens/Shutterstock.com</a></span></figcaption></figure><p>Back in 2016, Helen (a pseudonym) took three different direct-to-consumer (DTC) genetic tests: AncestryDNA, 23andMe and FamilyTreeDNA. She saw genetic testing as a way to enhance her paper trail genealogy research, and it panned out when she matched with several new relatives.</p>
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<a href="https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=800&fit=crop&dpr=1 600w, https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=800&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=800&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1005&fit=crop&dpr=1 754w, https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1005&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/279264/original/file-20190613-32321-smmyl7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1005&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">DTC companies extract DNA profiles from saliva samples users send in.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/dna-genetic-testing-saliva-kit-1114306274?src=jQH2fmvxgT3EobVc9IZeZw-1-22">Sarah Weldon/Shutterstock.com</a></span>
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<p>Helen is one of over 26 million individuals who <a href="https://www.technologyreview.com/s/612880/more-than-26-million-people-have-taken-an-at-home-ancestry-test/">have reportedly taken</a> a DTC genetic test. That’s a lot of spit in tubes being mailed to companies that promise customers information about their health, ancestry and family trees.</p>
<p>Notably, the search for genetic insights doesn’t always stop with the interpretations provided by the DTC companies. One of Helen’s matches on AncestryDNA told her how she could stretch her personal genomic information further: by downloading her raw genetic data, that long list of As, Cs, Gs and Ts at each of the DNA sites the DTC company measured, and then uploading it to third-party interpretation tools online such as GEDmatch and DNA.land to find more relatives.</p>
<p>Helen enthusiastically did so and joined Facebook groups dedicated to helping people use their genetic data to flesh out their family trees. While Helen wasn’t initially seeking health information, on these forums she learned about the third-party tool Promethease and decided to upload her data there as well. She thought, “Well, for five dollars – we’ll see what it says.”</p>
<p>Researchers don’t have a very clear or comprehensive picture of how DTC customers use their raw data and these kinds of third-party tools. <a href="https://scholar.google.com/citations?hl=en&authuser=1&user=cYI9flEAAAAJ">As a genetics researcher</a> interested in the ethical and social implications of genomics in research, clinical care and everyday life, I think it’s important to address this knowledge gap – particularly given questions about whether and to what extent these third-party tools are or should be regulated.</p>
<h2>Making the most of raw genetic data</h2>
<p><a href="https://doi.org/10.1016/j.ajhg.2019.05.014">I interviewed Helen as part of a larger research study</a> to better understand the perspectives, experiences and motivations of those accessing their raw DTC data and using third-party interpretation tools.</p>
<p>My colleagues and I conducted a survey of about 1,100 DTC customers recruited via social media and followed up with interviews of 10 respondents — to our knowledge, the largest survey of this topic to date.</p>
<p><iframe id="fxnwY" class="tc-infographic-datawrapper" src="https://datawrapper.dwcdn.net/fxnwY/3/" height="400px" width="100%" style="border: none" frameborder="0"></iframe></p>
<p>Eighty-nine percent of our survey participants had downloaded their genetic data from a DTC company, and most of those downloaders (94%) had also used one or more third-party interpretation tools – three tools on average. The most commonly used tools were GEDmatch (84% of tool users), Promethease (63%) and DNA.land (55%).</p>
<p>One notable aspect of our results is that over half of tool users (56%) used both health-related and non-health-related, such as ancestry and genealogy, tools. We called this phenomenon “crossover” use. These crossover users were significantly different from people who used only one tool type in terms of demographics, which DTC tests they had taken and what initially motivated them to do DTC testing.</p>
<p>For example, the percentage of users who had ordered 23andMe increased from the non-health-only to crossover to the health-only group, with a reverse trend for both AncestryDNA and FamilyTree DNA tests. While this trend is as you might expect, it was surprising how many respondents initially ordered DTC tests focused on ancestry and genealogy – like from AncestryDNA and FamilyTree DNA – who went on to use their genetic data from these companies in health-related third-party tools.</p>
<p>Imagine a DTC customer such as Helen who first focused on genetic genealogy. After matching with some new relatives on GEDmatch, she went on to plug her data into Promethease. There she saw thousands of reports of potentially increased genetic risk for diseases ranging from age-related macular degeneration to restless legs syndrome – quite a distance from where her genealogy quest started.</p>
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<p>Uploading genetic data to a variety of third-party tools makes sense when you consider that DNA carries multiple kinds of information: health risks, family relations and more distant genetic ancestry. The genome is like a Swiss Army knife in that you can draw on different characteristics depending on what you want to do or know. </p>
<p>Through our follow-up interviews, my research group learned how crossover users arrive at such different third-party tools. As with Helen, a common reason was hearing about multiple tools on social media venues such as Facebook groups or subreddits.</p>
<p>And once you’ve started plugging your raw data into one tool, there is relatively low activation energy required to use additional tools. Other reasons people tried additional third-party tools included initial lack of interesting findings in one domain and general curiosity to extract as much information as possible.</p>
<h2>More interpreters, more implications</h2>
<p>Once relatively obscure, third-party tools have come into the spotlight over the past year. The third-party genealogy website GEDmatch helped crack the Golden State Killer murders and <a href="https://www.nytimes.com/2019/04/25/us/golden-state-killer-dna.html">subsequently dozens of other cold cases</a>. The health-related tool Promethease <a href="https://www.nytimes.com/2018/07/02/health/gene-testing-disease-nyt.html">garnered</a> <a href="https://www.huffpost.com/entry/home-genetic-test-false-positives_n_5ac27188e4b04646b6451c42">headlines</a> <a href="https://www.nytimes.com/2018/09/15/opinion/sunday/23andme-ancestry-alzheimers-genetic-testing.html">when</a> individuals were incorrectly told they were at increased risk for serious diseases – though these false positives ultimately came down to errors in the DTC genetic data, rather than Promethease’s interpretation.</p>
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<a href="https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/279265/original/file-20190613-32327-1mr0cay.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Genetic counselors meet with patients who are caught off-guard by their third-party reports.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/young-female-doctor-consultation-senior-patient-1150248692">Monkey Business Images/Shutterstock.com</a></span>
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<p>Genetic professionals and especially <a href="https://www.forbes.com/sites/ellenmatloff/2019/02/12/i-had-lynch-syndrome-for-30-hours-2">genetic counselors who are on the frontlines</a>, seeing patients with their third-party reports, have well-founded <a href="https://doi.org/10.1038/s41436-018-0097-2">concerns about the quality and reliability</a> of <a href="https://www.nytimes.com/2018/09/15/opinion/sunday/23andme-ancestry-alzheimers-genetic-testing.html">results from DTC testing companies and third-party tools</a> alike. This unease is likely exacerbated by the variability in <a href="https://doi.org/10.1007/s10897-018-0217-9">scientific approaches and privacy and security practices</a> across third-party tools. While some rightly question the adequacy of current oversight for both <a href="https://doi.org/10.1126/science.aau1083">privacy controls</a> and reliability of <a href="https://doi.org/10.1038/s41436-018-0097-2">health-related information</a>, tighter regulation could restrict individual freedom to pursue personal genetic information.</p>
<p>Though my colleagues and I were able to reach over a thousand DTC customers in our study, we cannot say that our findings generalize to all DTC customers. Because of how we recruited participants, it’s likely that we sampled a very motivated and engaged group of people. The DTC testing and third-party tool landscape is also changing rapidly. Just in the past year, for instance, GEDmatch changed its terms of service <a href="https://www.wired.com/story/the-first-murder-case-to-use-family-tree-forensics-goes-to-trial/">regarding use by law enforcement</a> more than once, My Heritage <a href="https://www.businesswire.com/news/home/20190520005426/en/MyHeritage-Expands-Health-Launches-New-DNA-Test">expanded into health-related offerings</a>, and <a href="https://medium.com/the-seeq-blog/sunsetting-gencove-for-individuals-7d24f951193c">Gencove retired its consumer-oriented product</a>. Any research in this area is on shifting sands.</p>
<p>But this kind of study can also help inform genetics professionals who are considering delivering raw DNA data in other contexts. This includes researchers, such as those <a href="https://www.genomeweb.com/sequencing/all-us-program-plans-return-disease-variants-pgx-results-primary-genomic-data">planning to return raw data to participants</a> in the National Institutes of Health’s <a href="https://allofus.nih.gov">All of Us</a> precision medicine project. Clinicians who order genome sequencing tests may enable raw data access; patients have the <a href="https://www.hhs.gov/hipaa/for-professionals/privacy/guidance/access/index.html">legal right to their full laboratory reports</a>. Our study can shed some light on what individuals who receive raw data via these other routes might do with it.</p>
<p>Overall, our study illustrates the complexity and variety of third-party tool users’ motivations, experiences and actions. These findings should inform, but probably won’t simplify, the job of any regulators grappling with whether and how to respond to this growing field of genetic interpretation.</p>
<p>[ <em>Deep knowledge, daily.</em> <a href="https://theconversation.com/us/newsletters?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=deepknowledge">Sign up for The Conversation’s newsletter</a>. ]</p><img src="https://counter.theconversation.com/content/118248/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sarah Catherine Nelson does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>New research investigated who uses the wide array of tools available to people who’ve received their own raw genetic data and want to maximize what they learn from it.Sarah Catherine Nelson, Research Scientist in Biostatistics, University of WashingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1144282019-03-31T19:14:06Z2019-03-31T19:14:06ZHow DNA ancestry testing can change our ideas of who we are<figure><img src="https://images.theconversation.com/files/266228/original/file-20190328-139374-9u23bt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">We’ve underestimated the extent of mixing between ancestral groups throughout human history. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/serious-people-335748890?src=hK77HCa3N4kFvFhogDNvtQ-1-29">from www.shutterstock.com</a></span></figcaption></figure><p>Have you ever wondered who you are or where you come from?</p>
<p>I think it’s a fundamental human desire to want to know this.</p>
<p>One way we’re seeing this curiosity play out is in the rise of the at-home DNA ancestry business. You’ve probably seen the ads for tests like 23andme and Ancestry DNA: you spit in a tube, and then receive a report breaking you down into neat little slices in a pie chart telling you that you’re, say, 30% German and 70% English. As a population geneticist, I find this fascinating.</p>
<p>But how does our collective interest in ancestry testing interact with our ideas and conversations about race?</p>
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Read more:
<a href="https://theconversation.com/a-dna-test-says-youve-got-indigenous-australian-ancestry-now-what-95785">A DNA test says you’ve got Indigenous Australian ancestry. Now what?</a>
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<h2>‘No borders within us’</h2>
<p>Earlier this year, a Mexican airline, Aeromexico, ran a tongue-in-cheek ad campaign, called “<a href="https://www.youtube.com/watch?v=2sCeMTB5P6U">DNA Discounts</a>” with the slogan “there are no borders within us”. For the ad campaign they gathered a group of North Americans who were willing to take a DNA test and get their results on camera. This group contained some members with, let’s just say, a somewhat negative view of Mexico.</p>
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<figcaption><span class="caption">Do you want to go to Mexico?</span></figcaption>
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<p>In the ad, the airline offered rewards to these people based on their DNA results, in the form of a discounted airline ticket to Mexico. The size of the discount depended on the amount of Mexican ancestry. If their test showed 15% Mexican ancestry, that meant a 15% discount. </p>
<p>The footage of people getting their results on camera is pretty funny, and some of them seemed somewhat surprised, and maybe even upset about their reported ancestry. <a href="https://www.cbsnews.com/news/aeromexico-dna-ad-discounts-commercial-trump-mexico-us/">More than half</a> of those tested appeared to have Mexican ancestry, even though they weren’t aware of it.</p>
<p>The slogan “there are no borders within us” has an element of political commentary related to Donald Trump’s border wall. But the ad also teaches us two important things. </p>
<p>It shows how DNA testing can challenge not just our ideas of race and identity, but our notion of being. Your genetic ancestry might be completely different from your cultural identity. Just ask the folks in the ad. </p>
<p>Beyond this, it also highlights how mainstream this kind of science has become, and how much DNA ancestry testing has entered into pop culture.</p>
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Read more:
<a href="https://theconversation.com/five-things-to-consider-before-ordering-an-online-dna-test-92504">Five things to consider before ordering an online DNA test</a>
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<h2>Recent, dark past</h2>
<p>I think we humans have always been interested in our ancestry, but it hasn’t always been a healthy interest – sometimes it’s been much darker and more sinister. And we don’t even have to look too far into the past to see that.</p>
<p>The <a href="https://pged.org/history-eugenics-and-genetics/">eugenics movement</a> was part science and part social engineering, and based on the idea that certain things – such as being poor, lazy, “<a href="https://acluva.org/en/news/shameful-history-eugenics-virginia">feeble-minded</a>” or criminal – were actually traits that were inherited in families. These traits were often linked to certain ancestries or racial groups using <a href="https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1469-1809.2011.00649.x">biased</a> methodology. </p>
<p><a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1127045/">Eugenics</a> was the idea that humanity could <a href="https://readingroom.law.gsu.edu/buckvbell/74/">engineer</a> a better future for itself by identifying and regulating these groups using science and technology.</p>
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<em>
<strong>
Read more:
<a href="https://theconversation.com/boyer-lectures-the-new-eugenics-is-the-same-as-the-old-just-in-fancier-clothes-103165">Boyer Lectures: the new eugenics is the same as the old, just in fancier clothes</a>
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<p>In the United States in the early 20th century, eugenics became a recognised academic discipline at many prestigious universities – even <a href="https://harvardmagazine.com/2016/03/harvards-eugenics-era">Harvard</a>. By 1928, <a href="https://yalealumnimagazine.com/articles/3456-god-and-white-men-at-yale">almost 400</a> colleges and universities in America were teaching it. </p>
<p>In 1910 the <a href="http://library.cshl.edu/special-collections/eugenics">Eugenics Record Office</a> was set up to collect ancestry data, literally door to door. It then used this data to support racist agendas and <a href="https://library.missouri.edu/exhibits/eugenics/immigration.htm">influence</a> things like the <a href="https://history.state.gov/milestones/1921-1936/immigration-act">1924 Immigration Act</a> to curb immigration of southeastern Europeans, and ban <a href="http://historymatters.gmu.edu/d/5078">most</a> Asians and Arabs altogether. </p>
<p>Although we may think of eugenics as something linked with Nazi Germany in World War II, Hitler based some of his early <a href="http://historynewsnetwork.org/article/1796">ideas</a> about eugenics on these academic programs in the US. There was a fear of “pollution” of the purebred genetic lineage, and that the “inferior” races would contaminate the “superior” race. Many Nazi defendants at the Nuremberg trials claimed there wasn’t much difference between the Nazi eugenics program and the <a href="https://law.jrank.org/pages/2888/Buck-v-Bell-1927.html">ones in the US</a>.</p>
<h2>Racism with flawed science</h2>
<p>The events of that time are still relevant now. More than seven decades have passed and we’re seeing the rise of far-right groups and ideologies – the world of Trump, and the return of restrictive immigration policies. </p>
<p>We’re seeing a mainstreaming of ideas about race that we rejected not long ago. We’re once again seeing the science of genetics being misappropriated to support racist agendas. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/dramatic-advances-in-forensics-expose-the-need-for-genetic-data-legislation-105397">Dramatic advances in forensics expose the need for genetic data legislation</a>
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<p>Late last year, the <a href="https://www.nytimes.com/2018/10/17/us/white-supremacists-science-dna.html">New York Times reported</a> on a trend among white supremacists to drink milk. Most people of northern European ancestry have a version of a certain gene, called a <a href="https://www.nature.com/news/archaeology-the-milk-revolution-1.13471">lactase</a> gene, that means they can fully digest milk as adults. This is due to a genetic mutation several thousand years ago, around the time of the first cattle herders in Europe. </p>
<p>The article described how people from the far right have taken this scientific result and run with it – producing bizarre YouTube videos in which people chug milk from 2-litre containers, swigging it and throwing it around in celebration of their supposed “genetic superiority” – and urging people who cannot digest milk to “go back”. Comedian <a href="https://www.youtube.com/watch?v=9YGB8gvYOPY&t=115">Stephen Colbert</a> even picked up on this story (in his words: “lactose is their only form of tolerance”).</p>
<p>The white supremacists took this bit of science and twisted it to suit their needs. But what they have ignored is research showing that a similar version of this gene evolved among cattle breeders in <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700599/">East Africa</a> too.</p>
<h2>DNA does not define culture</h2>
<p>It’s not just popular culture: DNA ancestry has also entered political culture. </p>
<p>The right-wing Australian nationalist One Nation recently called for DNA ancestry tests as a <a href="https://www.sbs.com.au/nitv/article/2019/03/11/one-nation-aboriginal-indigenous-dna">requirement</a> to prove Aboriginal identity to access “benefits”. I don’t want to give this dangerous idea any more oxygen, and as a geneticist I can tell you it <a href="https://junkee.com/one-nation-aboriginal-dna-testing/197354">won’t work</a>. </p>
<p>Cultural identity is much more than simply what is in our DNA. Aboriginal communities are the ones who determine who is and who is not Indigenous. I think this episode highlights a worrying <a href="https://www.nytimes.com/2018/12/06/us/politics/elizabeth-warren-dna-test-2020.html">trend</a> for genetic tests to be seen as the ultimate decider of race and identity in public debates.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-dna-tests-for-indigenous-heritage-mean-different-things-in-australia-and-the-us-105367">Why DNA tests for Indigenous heritage mean different things in Australia and the US</a>
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<p>So how does the marketing of the DNA companies themselves influence our thinking about ancestry?</p>
<p>These ancestry companies use the language of science in their marketing, and present their results as being highly scientific – which people interpret as meaning accurate and factual. The process of estimating ancestry from DNA <em>is</em> scientific, but people may not realise it can also be a bit of a blurry process, and actually more of an estimate. </p>
<p>When you look at your slice in the pie chart and it says 16% German, it is not a fact that you are 16% German. It’s an estimate, or an educated guess, of your ancestry based on statistical inference. </p>
<p>I think representation of our ancestries in pie charts is not helping our conversations.</p>
<h2>Twins got different results</h2>
<p>Recently, two <a href="https://www.cbc.ca/news/technology/dna-ancestry-kits-twins-marketplace-1.4980976">identical twins</a> put five DNA ancestry companies to the test, and this provides a really interesting look at how this process works. </p>
<p>The raw data for each twin was more than 99% identical, which shows that the way the companies produce the raw data is indeed quite accurate. </p>
<p>The shocking thing was that the companies provided each twin with noticeably different ancestry estimates.</p>
<p>From one company, the first twin got 25% Eastern European, and the second got 28%. Just to be clear, this shouldn’t happen with identical twins because they have the same DNA. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/genetic-ancestry-tests-dont-change-your-identity-but-you-might-98663">Genetic ancestry tests don’t change your identity, but you might</a>
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<p>Even more surprising, one company said the twins were 27-29% Italian, but another said they were 19-20% Greek. A lot of this difference would be based on the size of the databases that the companies use as references and who is in the databases, and – very importantly – who has been left out of the databases. These factors would be different between the different companies, and change through time. </p>
<p>So the results you get now could be different to the results you might get in, say, six months when the databases are updated.</p>
<p>Estimating our ancestry is hard, and the main reason it is hard is because our ancestry is much more mixed up than some people might have thought. It’s not really so clear-cut as a pie chart might suggest. The statistics are blurry because our populations are blurry. </p>
<p>The bigger picture that’s emerging from DNA ancestry testing is that we’ve underestimated the extent of mixing between ancestral groups throughout human history.</p>
<p>Looking at the pie chart might give you the impression that there are discrete borders within you and boundaries between your different ancestries, but as Aeromexico so eloquently put it, “there are no borders within us”.</p>
<hr>
<p><em>This article is an edited version of a story presented on <a href="https://www.abc.net.au/radionational/programs/ockhamsrazor/dna-ancestry-testing-and-race/10943576">ABC’s Ockham’s Razor</a> and delivered at the World Science Festival, Brisbane in March 2019.</em></p><img src="https://counter.theconversation.com/content/114428/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Caitlin Curtis receives funding from Queensland Genomics Health Alliance. </span></em></p>Estimating our ancestry is hard – because our backgrounds are much more mixed up than we thought. So don’t take your DNA ancestry test results literally: they’re just a prediction.Caitlin Curtis, Research fellow, Centre for Policy Futures (Genomics), The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1133432019-03-12T20:51:48Z2019-03-12T20:51:48ZCan a genetic test predict if you will develop Type 2 diabetes?<figure><img src="https://images.theconversation.com/files/263492/original/file-20190312-86703-cjfm0t.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A woman uses a lancet on her finger to check her blood sugar level with a glucose meter.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/close-woman-hands-using-lancet-on-1316276744">Behopeful/Shutterstock.com</a></span></figcaption></figure><p>When I got home after work I was surprised to find my husband and three children sitting by the television and watching the news. They had just learned that the direct to consumer genetic testing company <a href="https://mediacenter.23andme.com/press-releases/23andme-offers-new-genetic-report-on-type-2-diabetes/">23andMe was now offering</a> a report that assessed the customers’ risk of developing Type 2 diabetes. “Is it true?” my husband asked. “Can they now study my genes and predict whether I will get Type 2 diabetes?” </p>
<p>As a primary care physician who is exploring how to integrate genetic testing into traditional family medicine – a combination we now describe as precision medicine – I was excited to explain the science behind this new report and the barriers to using 23andMe’s new diabetes risk score in current clinical care. </p>
<p>As a family physician, I am eager to identify my patients most at risk for developing diabetes, as this is a very costly and debilitating disease with numerous health consequences such as kidney failure, heart disease, painful neuropathy and limb amputation. In the U.S. alone more than <a href="https://www.cdc.gov/diabetes/data/statistics/statistics-report.html">30 million Americans</a> have Type 2 diabetes and of these <a href="https://www.cdc.gov/diabetes/data/statistics/statistics-report.html">7.2 million are undiagnosed</a> and unaware of their condition. Another <a href="https://www.cdc.gov/diabetes/data/statistics/statistics-report.html">84.1 million adults older than 18</a> are at high risk and considered prediabetic. So how did 23andMe calculate this risk score, and would it help the millions who were unaware of their state of health?</p>
<h2>Calculating risk of Type 2 diabetes</h2>
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<a href="https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=776&fit=crop&dpr=1 600w, https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=776&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=776&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=976&fit=crop&dpr=1 754w, https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=976&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/263461/original/file-20190312-86693-dzd3r5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=976&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">The cost of diabetes.</span>
<span class="attribution"><a class="source" href="http://www.diabetes.org/assets/img/advocacy/2018-cost-of-diabetes.jpg">American Diabetes Association</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span>
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<p>As my family sat down to a carbohydrate-rich dinner of pasta, my famous pesto pizza rolls and a salad, I explained how this direct-to-consumer testing service was calculating the risk of this complex disease that is caused by the interaction of diet, environment and thousands of genes.</p>
<p>The piece of the puzzle that 23andMe is calculating is called the “polygenic risk score,” which is the likelihood we were born with of developing certain diseases or conditions. </p>
<p>Polygenic risk scores are not based on single genes or mutations. Instead, these calculations look at the cumulative effect of thousands of small variations scattered throughout our genomes. Not all variations cause harmful effects, some are beneficial and boost health, decreasing the odds of developing diabetes. Each one of these variations alone may not have a significant impact on our health, but together they add up to increased risk of developing certain types of disease. According to 23andMe, the polygenic risk score for Type 2 diabetes was based on <a href="https://blog.23andme.com/health-traits/type-2-diabetes/">research using the shared DNA of their consumers</a>. </p>
<p>The DNA data the company is collecting is not just to report results back to the consumer; some 2.5 million 23andMe customers have consented to allow the company to use their DNA for research. So can this polygenic risk score tell us our increased likelihood or susceptibility to developing diseases such as diabetes? </p>
<p>The short answer is yes. </p>
<p>With advances in genomics and large repositories of genetic data from the general public, scientists have now identified how certain genetic variants raise or lower risk of a particular disease and use these associations to calculate a risk score. In an article published in Nature Genetics last year in 2018, the researchers reported polygenic risk scores that identified individuals with as much as <a href="https://doi.org/10.1038/s41588-018-0183-z">three times the risk</a> of developing Type 2 diabetes. That number certainly caught my family’s attention. This means that if your average risk as an American of developing a specific disease is 1 out of 100, then your new risk could increase to 3 out of 100. </p>
<h2>Polygenic risk: Just part of the equation</h2>
<p>While your genetics might actually tell you that you are at a higher risk for developing diabetes, that is not the whole story. In addition to genetic predisposition, it is important to factor in an individual’s environment. </p>
<p>When it comes to diabetes, the environmental factors are largely nutrition and activity. A diet low in sugar and carbohydrates, which I normally advocate for, when I am not feeding my family pasta, and an active lifestyle can override our genetic predisposition for diabetes. It can also control diabetes after a diagnosis. </p>
<p>The key question, as researchers and physicians wrangle with incorporating more genetic data into health care, is how will individuals react to learning that they are genetically predisposed to developing diabetes? Will they use this knowledge to implement and sustain the lifestyle changes necessary to mitigate that risk? </p>
<p>Lifestyle changes like this are not easy. Many people make New Year’s pledges to exercise more and lose weight, but just two months into the year, some <a href="https://health.usnews.com/health-news/blogs/eat-run/articles/2015-12-29/why-80-percent-of-new-years-resolutions-fail">80 percent of people fail</a> to make those resolutions stick. We don’t know yet whether genetic knowledge will inspire people to commit to new lifestyles.</p>
<h2>Won’t an annual check up detect developing diabetes?</h2>
<p>You might be wondering: Can’t my primary care physician order lab tests to gauge my overall health and detect developing diabetes? </p>
<p>This is a great point. There are tests to measure for Type 2 diabetes. Conventional screening tests may include the monitoring of fasting blood sugar; measuring hemoglobin A1c and, occasionally, measurement of fasting insulin levels. </p>
<p>Unfortunately, by the time these biomarkers start showing changes consistent with pre-diabetes or the onset of diabetes, the disease process has already begun. </p>
<p>The screening tests allow us to react to the development of the disease, but a genetic test might help prevent the disease onset entirely. The promise of polygenic risk scores and their implications for health is exciting because it shifts the focus from diagnosis to prevention. </p>
<p>But that doesn’t mean that I will be recommending the 23andMe diabetes score instead of the regular <a href="https://medlineplus.gov/lab-tests/hemoglobin-a1c-hba1c-test/">laboratory A1c test</a>. While the polygenic risk score test is exciting and sexy, it is not yet ready for prime-time clinical care. That’s because many health care providers don’t know what to do with this type of technology. </p>
<h2>Barriers to genetic risk scores</h2>
<p>There are still challenges to integrating genetics into primary care. The Food and Drug Administration, the government agency charged with overseeing these tests, has established that clinical decisions cannot rely solely on a direct-to-consumer genetic testing result, like the diabetes report, and that the result must be clinically validated in a clinical lab that processes routine testing. </p>
<p>Currently, there is not a FDA-approved clinical polygenic risk score test for diabetes that is universally available to health care providers. In addition, there is no defined space to store such genetic data in the electronic health record. The U.S. health care system also lacks evidence-based algorithms to guide providers how to use the data in clinical care. </p>
<p>So, what you do with your polygenic risk score? I recommend that when this test result does arrive, you share it with your PCP. Even though your doctor cannot use the test nor order its clinical counterpart at this time, you can both engage in ongoing discussions about how to improve your health with regular exercise and better food choices and continue with your scheduled preventative health care. </p>
<p>Remember, the next time your doctor says eat well and exercise, that might not be just good advice but actually a precision medicine prescription for your health.</p><img src="https://counter.theconversation.com/content/113343/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Mylynda Massart has received an educational research grant from 23andMe to develop education in genomics for primary care residents. Mylynda Massart is a co-investigator for the All of Us Pennsylvania research study.</span></em></p>Direct-to-consumer genetic testing company 23andMe is now offering a new ‘polygenic risk score’ that reveals your risk of developing Type 2 diabetes. Does it work? Are our family physicians ready?Mylynda Massart, Assistant Professor of Family Medicine, University of PittsburghLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/986632018-07-04T23:04:05Z2018-07-04T23:04:05ZGenetic ancestry tests don’t change your identity, but you might<figure><img src="https://images.theconversation.com/files/226198/original/file-20180704-73315-x8rs5h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic ancestry testing might all seem like harmless fun, but there is a downside. </span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>You’ve probably seen that Ancestry commercial — the one where Kyle, who grew up German, takes a DNA test and discovers that his ancestry is mostly Scottish, and trades his lederhosen for a kilt. Or maybe you’ve seen the one where Kim learns from a DNA test that she is 26 per cent Native American and, surrounded by Native pottery, can finally know who she is.</p>
<p><a href="http://www.beacon.org/The-Social-Life-of-DNA-P1140.aspx">Genetic ancestry testing is a billion-dollar industry</a>, with test sales <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">growing exponentially</a>. An estimated <a href="https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart">16 million tests have been sold</a> — most within the last few years. </p>
<p>A strong appeal of these tests is their promise to tell you “who you are.” While the testing companies no longer use the words “race” or “ethnicity,” <a href="https://www.ispot.tv/brands/dhv/ancestry">advertisements like those featuring Kyle and Kim</a> show that this is exactly what they are selling.</p>
<p>But before you rush out to discover your “true” race or ethnicity, you should know that these tests will not tell you this, or even who you “really” are. </p>
<p>This information is not hidden within your genes or revealed by these tests. And the only people who trade one set of ethnic garb for another as a result of these tests are those who are looking for a reason to do so.</p>
<h2>Ancestry tests often misunderstood</h2>
<p>For several years, I have been leading a large research project on genetic ancestry testing. During this time, I have learned that those pie charts showing percentages of ancestry <a href="https://pdfs.semanticscholar.org/c02c/8d84e95032ae737f35809cc6c3f2018e1ab3.pdf">are grossly oversimplified</a>, revealing <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869013/">a probability rather than a definitive answer</a>. They <a href="http://journals.sagepub.com/doi/full/10.1177/0038038513493538">are based on science that is meant to address questions at the population level</a>, not about specific individuals.</p>
<p>But consumers often <a href="http://journals.sagepub.com/doi/abs/10.1177/0306312708091929">take their results seriously</a>. </p>
<p>As a social scientist who studies the way that <a href="https://link.springer.com/article/10.1007/s11206-005-1897-0">racial identities and categories change over time and place</a>, I believe <a href="https://www.sup.org/books/title/?id=16798">our ideas about race and ethnicity are shaped by societies</a> and not just what is found in our genes. </p>
<p>I wanted to find out whether test-takers view their results as definitive, and whether that might encourage them to view racial differences as purely biological.</p>
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<h2>‘Cherry picking’ identities</h2>
<p>My <a href="https://www.journals.uchicago.edu/doi/abs/10.1086/697487">recently published paper in the <em>American Journal of Sociology</em></a> shows that test consumers usually do not change their ethnic or racial identities after taking these tests. More than 60 per cent of those my research team and I interviewed said the test results did not affect their identity.</p>
<p>Those whose identities do change do not simply accept the test results as scientific fact. They cherry-pick from the results, adopting or rejecting particular identities based on which ones they view positively or negatively and their beliefs about what others will accept.</p>
<p>We see this with “Eduardo,” a Mexican-American man who initially identified as white Hispanic with Native American ancestry. His ancestry tests reported Native American, Celtic and Jewish ancestry. Eduardo embraced a new Jewish identity, explaining: “I always looked up to the Jewish people and Jewish friends and neighbours. I just feel better now because I’m one of them…I thought of them as higher than me: I have just now reached the top with them.”</p>
<p>But Eduardo rejected a Celtic identity, saying: “I can pass for a Jew, there’s no question about it. There’s no way I could pass for a Celtic, because I’m dark, and sort of fat, short. And because this ideal we have of the Celts, they’re tall, strong, big people….So…it’s just, ‘Stupid Mexican, dreaming he’s got Celtic blood in him.’” </p>
<p>Consumers like Eduardo often rely on stereotypes about what groups look and act like in deciding which ones to embrace. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=600&fit=crop&dpr=1 600w, https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=600&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=600&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=753&fit=crop&dpr=1 754w, https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=753&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/226194/original/file-20180704-73306-379ty1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=753&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Most test-takers do not take their results as fact. They cherry pick from the results.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>When their tests reported ancestries they did not like, test-takers ignored them. Or if they did not like their previous identity, they found others to replace it with. </p>
<p>“Amy” was adopted but told that her birth mother was German. She explained: “I was actually embarrassed to be German because of what happened with the Holocaust…. And I thought ‘I wish I could be from somewhere else and not be German.’” When her results reported German and Basque ancestry, she began identifying as Basque.</p>
<p>Some were looking to confirm a family story or an identity they view positively. “Shannon” was adopted and always believed she had Native American lineage through her birth parents. When her test results revealed no Native American ancestry, she decided the test must be wrong and continued to identify as Native American.</p>
<p>Rather than viewing their test results as providing objective “proof” of who they are, test-takers picked the truths they wanted from their tests.</p>
<h2>Whites change their identity most</h2>
<p>Most often in the study, it was white test consumers who adopted new racial or ethnic identities. They saw their initial identities as too bland or as not providing enough sense of belonging. They longed for what sociologists have called “<a href="https://www.cambridge.org/core/journals/du-bois-review-social-science-research-on-race/article/color-capital-white-debt-and-the-paradox-of-strong-white-racial-identities/FE845DE30B457103ABFC97FB053DA7AE">colour capital</a>,” a connection to something more interesting or exotic than “just white.”</p>
<p>Non-white consumers felt a strong sense of political and cultural connection to their existing ethnic and racial groups. While they found the results interesting, they generally felt no need to change their identity in light of them.</p>
<p>In addition, Black and Latino test-takers already knew they had mixed racial ancestry, because of the history of racial mixing within their groups. As “Marvin” explained: “My identity as a Black American…was not affected unduly because to be of mixed racial ancestry…does not place you outside of the Black group.”</p>
<h2>Consequences of testing</h2>
<p>Genetic ancestry testing might all seem like harmless fun, but there is a downside. When whites adopt “exotic” new racial identities, it fosters the view that race is costless, something that can be enjoyed without real consequences. That can promote a <a href="https://books.google.com.mx/books?id=QQglDwAAQBAJ&printsec=frontcover&dq=Bonilla-Silva,+racism+without+racists&hl=en&sa=X&ved=0ahUKEwjDuLbkv-HbAhVLA6wKHQkFB1YQ6AEIJzAA#v=onepage&q=Bonilla-Silva%2C%20racism%20without%20racists&f=false">false view that race is inconsequential today for everyone</a>.</p>
<p>Some suggest that these tests <a href="https://www.ssc.wisc.edu/soc/faculty/pages/docs/fujimura/bolnick_fujimura_et_al_genealogy_testing_Science_2007.pdf">may increase essentialist beliefs</a> — the view that racial groups have distinct abilities and skills that are determined by their genes, and which has <a href="https://www.ucpress.edu/book/9780520270312/the-nature-of-race">previously contributed to racial exclusion, discrimination and eugenics</a>. </p>
<p>Research shows that reading media articles that depict genetic ancestry tests as able to reveal your race <a href="http://journals.sagepub.com/doi/10.1177/0190272514529439">increases belief in essential racial differences</a>. My research with test consumers finds that they typically believe these tests support the views they already held: Those who believed that race was determined by genes before <a href="https://pwias.ubc.ca/videos/genetic-ancestry-testing-and-the-meaning-race-wendy-roth">claimed that these tests offer proof of that view</a>.</p>
<p>If you’re going to buy a genetic ancestry test, you need to educate yourself on the science behind them and what they can and cannot tell you. And don’t buy these tests to find out your race or ethnicity. The science is unable to tell you this. </p>
<p>The experience of test consumers shows that these tests reinforce what you want to believe rather than offering objective, scientific proof of who you are.</p>
<p>And the next time you see someone buying a new kilt or Native pottery after taking a genetic ancestry test, remember that the test didn’t change who they are; they simply wanted to believe it did.</p><img src="https://counter.theconversation.com/content/98663/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Wendy D. Roth receives funding from the Social Sciences and Humanities Research Council of Canada and the Canada Foundation for Innovation.</span></em></p>The results of genetic ancestry tests are grossly over-simplified. A new study shows the tests reinforce what you want to believe rather than offering objective, scientific proof of who you are.Wendy D. Roth, Associate Professor of Sociology, University of British ColumbiaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/965742018-05-25T12:22:24Z2018-05-25T12:22:24ZWe’re not prepared for the genetic revolution that’s coming<figure><img src="https://images.theconversation.com/files/220458/original/file-20180525-51135-qvxam5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/close-businessman-holding-glowing-dna-helix-683382997?src=XtIrmtlLbNh-UD32uwMXmQ-1-6">Shutterstock</a></span></figcaption></figure><p>When humans’ genetic information (known as the genome) was mapped 15 years ago, it promised to change the world. Optimists anticipated an era in which all genetic diseases would be eradicated. Pessimists feared widespread genetic discrimination. Neither of these hopes and fears have been realised.</p>
<p>The reason for this is simple: our genome is complex. Being able to locate specific differences in the genome is only a very small part of understanding how these genetic variants actually work to produce the traits we see. Unfortunately, few people understand just how complex genetics really is. And as more and more products and services start to use genetic data, there’s a danger that this lack of understanding could lead people to make some very bad decisions.</p>
<p>At school we are taught that there is a dominant gene for brown eyes and a recessive one for blue. In reality, there are almost no human traits that are passed from generation to generation in such a straightforward way. Most traits, <a href="https://www.nature.com/articles/jhg2010126">eye colour</a> included, develop under the influence of several genes, each with its own small effect.</p>
<p>What’s more, each gene contributes to many different traits, a concept called pleiotropy. For example, genetic variants associated with autism have also been <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511766/">linked with schizophrenia</a>. When a gene relates to one trait in a positive way (producing a healthy heart, say) but another in a negative way (perhaps increasing the risk of macular degeneration in the eye), it is known as <a href="https://www.nature.com/articles/ncomms7063">antagonistic pleiotropy</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=342&fit=crop&dpr=1 600w, https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=342&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=342&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=430&fit=crop&dpr=1 754w, https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=430&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/220460/original/file-20180525-51102-1ymb73h.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=430&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">There’s no single gene for eye colour.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/closeup-blue-eyes-woman-without-makeup-326171174?src=FdLfJZAe9ecP0M7kAff_bg-1-42">Shutterstock</a></span>
</figcaption>
</figure>
<p>As computing power has increased, scientists have been able to link many individual molecular differences in DNA with specific human characteristics, including behavioural traits such as <a href="https://www.nature.com/articles/mp2016107">educational attainment</a> and <a href="https://www.biologicalpsychiatryjournal.com/article/S0006-3223(16)32664-6/fulltext">psychopathy</a>. Each of these genetic variants only explains a tiny amount of variation in a population. But when all these variants are summed together (giving what’s known as a characteristic’s <a href="https://blogs.scientificamerican.com/guest-blog/whats-your-polygenic-score/">polygenic score</a>) they begin to explain more and more of the differences we see in the people around us. And with a lack of genetic knowledge, that’s where things start to be misunderstood.</p>
<p>For example, we could sequence the DNA of a newborn child, calculate their polygenic score for academic achievement and use it to predict, with some degree of accuracy, how well they will do in school. Genetic information may be the strongest and most precise predictor of a child’s <a href="https://www.nature.com/articles/mp2016107">strengths and weaknesses</a>. Using genetic data could allow us to more effectively personalise education and target resources to those children most in need.</p>
<p>But this would only work if parents, teachers and policymakers have enough understanding of genetics to correctly use the information. <a href="https://www.cambridge.org/core/journals/journal-of-biosocial-science/article/genes-and-gini-what-inequality-means-for-heritability/FD7C2DEA0A89346708A193B5CB23B0CF">Genetic effects can be prevented or enhanced</a> by changing a person’s environment, including by providing educational opportunity and choice. The misplaced view that genetic influences are fixed could lead to a system in which children are permanently separated into grades based on their DNA and not given the right support for their actual abilities.</p>
<h2>Better medical knowledge</h2>
<p>In a medical context, people are likely to be given advice and guidance about genetics by a doctor or other professional. But even with such help, people who have better genetic knowledge will benefit more and will be able to make more informed decisions about their own health, family planning, and health of their relatives. People are already confronted with offers to undergo costly genetic testing and gene-based <a href="https://www.oncologica.com/dynamic-cmp-routing/?pg=sp6&vn=dbs&cmp=adw&lng=en&ch=google&gclid=EAIaIQobChMIxpb5gN7u2gIVxITVCh04BgSSEAAYASAAEgIxn_D_BwE">treatments for cancer</a>. Understanding genetics could help them avoid pursuing treatments that aren’t actually suitable in their case.</p>
<p>It is now possible to edit the human genome directly using a technique called <a href="https://theconversation.com/what-is-crispr-gene-editing-and-how-does-it-work-84591">CRISPR</a>. Even though such genetic modification techniques are regulated, the relative simplicity of CRISPR means that biohackers are already using it to edit their own genomes, for example, to <a href="https://www.buzzfeed.com/stephaniemlee/this-biohacker-wants-to-edit-his-own-dna?utm_term=.jjYRlLwxmA#.tsqoROD5xA">enhance muscle tissue</a> or <a href="http://www.bbc.co.uk/news/world-us-canada-41990981">treat HIV</a>.</p>
<p>Such biohacking services are very likely to be made available to buy (even if illegally). But as we know from our explanation of pleiotropy, changing one gene in a positive way could also have catastrophic unintended consequences. Even a broad understanding of this could save would-be biohackers from making a very costly and even potentially fatal mistake. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=362&fit=crop&dpr=1 600w, https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=362&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=362&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=454&fit=crop&dpr=1 754w, https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=454&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/220461/original/file-20180525-51121-gocrpk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=454&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Biohackers may try to enhance their bodies with altered DNA.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/heroin-addiction-young-manteen-finding-vein-88931419?src=gdauW8rYfTzlMoSTuISRDA-1-39">Shutterstock</a></span>
</figcaption>
</figure>
<p>When we don’t have medical professionals to guide us, we become even more vulnerable to potential genetic misinformation. For example, <a href="https://www.marmite.co.uk/geneproject">Marmite</a> recently ran an ad campaign offering a genetic test to see if you either love or hate Marmite, at a cost of £89.99. While witty and whimsical, this campaign also has several problems.</p>
<p>First, Marmite preference, just like any complex trait, is influenced by complex interactions between genes and environments and is far from determined at birth. At best, a test like this can only say that you are more likely to like Marmite, and it will have a great deal of error in that prediction.</p>
<p>Second, the ad campaign shows a young man seemingly <a href="https://www.youtube.com/watch?v=AjivUDIawLI">“coming out”</a> to his father as a Marmite lover. This apparent analogy to sexual orientation could arguably perpetuate the outdated and dangerous notion of “<a href="https://theconversation.com/gay-genetics-research-still-causes-irrational-fears-23284">the gay gene</a>”, or indeed the idea that there is any single gene for complex traits. Having a good level of genetic knowledge will enable people to better question advertising and media campaigns, and potentially save them from wasting their money.</p>
<p><a href="https://link.springer.com/article/10.1007/s12687-018-0363-7">My own research</a> has shown that even the well-educated amongst us have poor genetic knowledge. People are not empowered to make informed decisions or to engage in fair and productive public discussions and to make their voices heard. Accurate information about genetics needs to be widely available and more routinely taught. In particular, it needs to be incorporated into the training of teachers, lawyers and health care professionals who will very soon be faced with genetic information in their day-to-day work.</p>
<hr>
<p><em>To test your genetic knowledge and see how ready you are to make informed decisions in the genomic era visit <a href="http://www.tagc.world/iglas">The International Genetics Literacy and Attitudes Survey</a> and contribute to our ongoing research.</em></p><img src="https://counter.theconversation.com/content/96574/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Robert Chapman does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Genetics is influencing more and more of our decisions, but we can’t make the right choices if we don’t understand it.Robert Chapman, PhD Candidate, Goldsmiths, University of LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/962572018-05-21T10:44:59Z2018-05-21T10:44:59ZDNA apps promise deeper insights for consumers – but at what cost?<figure><img src="https://images.theconversation.com/files/219580/original/file-20180518-42200-guicet.jpg?ixlib=rb-1.1.0&rect=372%2C0%2C2658%2C1853&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Users may want to know more than what’s in a basic report from a genetic testing company.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/ko/image-photo/hand-magnifying-glass-on-banded-dna-82806622">science photo/Shutterstock.com</a></span></figcaption></figure><p>Last month, law enforcement in California <a href="http://www.sacbee.com/news/local/crime/article209779364.html">apprehended the alleged Golden State Killer</a>, a serial murderer and rapist who terrorized the state during the 70s and 80s. Investigators triangulated to a suspect using a combination of DNA evidence left at crime scenes and publicly available genetic genealogy websites, <a href="https://www.nytimes.com/2018/04/26/us/golden-state-killer.html">most notably GEDMatch</a>.</p>
<p>Quite provocative in its own right, the incident has sparked <a href="https://cruwys.blogspot.com/2018/04/gedmatch-ysearch-and-golden-state-killer.html">much discussion and debate</a> about genetic privacy, ownership of genetic data and appropriate uses of DNA evidence, and database searching by law enforcement. <a href="https://scholar.google.com/citations?hl=en&authuser=1&user=cYI9flEAAAAJ">As a researcher studying</a> personal access to “raw” or uninterpreted genetic data and the ways people use it on third-party interpretation websites such as GEDMatch, I’m glad to see the public focusing on a few key distinctions in the world of personal genetic testing. There are notable but often underappreciated differences between the more well-known consumer testing companies and the third-party sites that promise users further interpretation of their data. </p>
<h2>After you get your DNA data …</h2>
<p>Direct-to-consumer (DTC) genetic testing has been relatively mainstream since around 2007. The two largest companies, 23andMe and AncestryDNA, have collectively amassed <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">over 10 million customers</a>. For a <a href="https://ghr.nlm.nih.gov/primer/dtcgenetictesting/dtccost">cost of around US$100</a>, DTC companies have you spit into a tube from which they extract your DNA. They focus on a predefined set of between half a million and a million sites – what geneticists call base pairs (the coupled As, Cs, Ts and Gs) – in your genome. This subset is less than 0.05 percent of the whole genome; <a href="https://doi.org/10.1016/j.atg.2016.01.005">few companies offer to sequence the entire thing</a>.</p>
<p>Depending on the company, this genetic information is then used to generate reports about genetic ancestry, physical traits, disease predispositions or relatedness to other customers in the company’s database. Most DTC companies also allow customers to download a file of their “raw” or uninterpreted genetic data. Essentially this is a long text file that lists all the sites genotyped by the company and the customer’s DNA sequence at those sites.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=522&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=522&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=522&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=656&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=656&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=656&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Third-party tools take the raw DNA further than the first two parties: the individual who provided the DNA and the direct-to-consumer genetic testing company.</span>
<span class="attribution"><span class="source">Montage by Sarah Catherine Nelson</span></span>
</figcaption>
</figure>
<p>So now DTC customers have raw data files sitting on their hard drives that they may want to further leverage but aren’t sure how. Enter third-party interpretation websites run by other companies, entrepreneurs and citizen scientists. These online tools enable users to pursue further interpretation and analysis of their raw data files – perhaps also contributing to additional research. There are currently dozens of such tools, and the list seems to be growing.</p>
<p>If the past decade of consumer genomics has been a music festival, the large DTC companies have been playing the main stage, while third-party tools have been off performing smaller venues. They might have adamant fans and a loyal following, but they just haven’t been on the general public’s radar to the same extent as DTC testing. Similarly, there’s a <a href="https://doi.org/10.1002/mgg3.340">small</a> <a href="https://doi.org/10.1093/tbm/ibx009">amount</a> of <a href="https://doi.org/10.1038/ejhg.2017.126">research</a> <a href="https://doi.org/10.1007/s10897-018-0217-9">on third-party tools</a> compared to how much academic attention has been paid to DTC testing.</p>
<p>This group of apps and sites is also a very disparate genre. While you can parse them according to the primary categories of information DTC companies return – health, ancestry and relatives – they’re more varied in scale, modes of operation and other functionalities, like whether they’re connected with citizen science research initiatives.</p>
<h2>Spit versus genetic data</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Users send off a biological sample from which the company extracts DNA data.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/brendanlim/5224050727">Brendan Lim</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
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<p>One key difference between DTC companies and third-party websites is what you submit to them and how. Most DTC companies collect customer DNA samples via mail-in spit kits. Producing a milliliter or two of spit is surprisingly difficult – it’s definitely not something you’re going to do without noticing. Indeed companies settled on this method of sample collection in part <a href="https://int.customercare.23andme.com/hc/en-us/articles/214811338-Can-I-be-genotyped-anonymously">to avoid surreptitious testing</a> – meaning it’s unlikely someone can send in your sample without your knowledge.</p>
<p>The spit is the physical material from which the DTC companies extract DNA molecules that they then genotype to produce a file with the customer’s raw genetic data. Once encapsulated in a file, genetic data is quite portable and more difficult to control. You can email it, upload it or copy it onto thumb drives and ship to your 10 closest friends. Compared to spitting in a tube, you may not know if someone obtains and uploads your data file to a third-party site.</p>
<p>What third-party interpretation websites actually do with users’ genetic data files varies widely and is especially relevant to the Golden State Killer case. Some tools – one is Promethease – delete user data after a fixed and rather short period of time. The site holds onto it just long enough to generate the health-related report. Other tools never require data to leave the user’s own computer or device; instead, the analysis happens locally – for instance, GENOtation/Interpretome, David Pike’s utilities and the DNA Doctor smartphone app.</p>
<p>For other tools, retaining users’ data long term is central to the operation and mission. Genealogy-focused tools such as GEDMatch need to keep data to allow new users to search across the database for relatives – as is also the case with the DTC companies that offer a relative-finding service. Tools such as DNA.Land retain user data in part to conduct research studies. But even these tools that keep user data are not public or open databases; one can’t directly download or access other users’ raw genetic data. A notable exception is the <a href="https://doi.org/10.1371/journal.pone.0177158">open science project openSNP</a>, which explicitly makes all user data freely available for download in the interest of making science more accessible and collaborative.</p>
<h2>Physical versus informational property</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=471&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=471&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=471&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=592&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=592&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=592&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Once the genetic information has been extracted from a biological sample, the question of ‘ownership’ changes.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/jurvetson/5685505275">Steve Jurvetson</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
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<p>Another striking feature of genetic data is that once it’s been extracted from a physical sample it can be used in many places at once. 23andMe can have my genetic data and use it for research; I may also have it and use it in as many third-party sites as I choose. In a legal sense, the genetic data can be thought of like other informational or intellectual property: Its consumption is “<a href="https://plato.stanford.edu/entries/intellectual-property/#42InfNonRiv">non-rivalrous</a>,” meaning one person’s use does not interfere with another’s.</p>
<p>These features make genetic data different from physical property, which typically can’t be used by many people at once and may be exhausted over time. People often overlook that the bundle of property rights that could be considered for a physical specimen of DNA – a sample of spit or the DNA molecules extracted from it – are different than those of a genetic data file. <a href="https://www.casebriefs.com/blog/law/property/property-law-keyed-to-cribbet/non-traditional-objects-and-classifications-of-property/moore-v-regents-of-the-university-of-california-2/">Legal precedent holds</a> that individuals do not have property rights in their biospecimens. Potential ownership of personal genetic data, however, is really only now beginning to be <a href="http://genomemag.com/do-you-belong-to-you/">tested in the courts</a>.</p>
<p>Regardless of ownership questions, it’s difficult to maintain control of how genetic data is used in the distributed system of DTC genetic testing and third-party tools. Joseph DeAngelo didn’t submit his sample to a DTC company or upload his data to a third-party site. Instead, law enforcement used abandoned material to generate a genetic data file in the same format that one would download from a DTC company. But some of his more distant relatives apparently did do DTC testing. DeAngelo didn’t upload his genetic data to GEDMatch – investigators did – but some of his relatives uploaded theirs, allowing police to eventually trace their way to him.</p>
<h2>Leaping before looking</h2>
<p>What genetic and personal information are people exposing when they upload it to third-party sites? There is no blanket answer, as these tools differ markedly in what they offer and what they do behind the screen.</p>
<p>The bottom line is that third-party interpretation websites are a heterogeneous bunch. Most lack the large legal teams and technical management systems of the major DTC companies. And currently there’s not a clear regulatory framework for third-party tools. Indeed, many of the developers <a href="https://doi.org/10.1007/s10897-018-0217-9">view their activities as simply connecting</a> users to pre-existing genetic annotation sources and therefore not warranting stricter government oversight. The lack of regulatory clarity largely leaves it to individuals to do their due diligence before using any of these tools and services. We as a society are learning the hard way. When we aren’t paying (much) for a service, we and our data are the product.</p><img src="https://counter.theconversation.com/content/96257/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sarah Catherine Nelson does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Data and privacy issues are tangled up in the DNA reports consumers get from big genetic testing companies – and the third-party sites they turn to in order to glean more from their raw DNA.Sarah Catherine Nelson, Research Scientist in Biostatistics and PhD Candidate in Public Health Genetics, University of WashingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/938362018-05-14T10:37:24Z2018-05-14T10:37:24ZRecreational ancestry DNA testing may reveal more than consumers bargained for<figure><img src="https://images.theconversation.com/files/218469/original/file-20180510-185500-1ha7dfe.jpg?ixlib=rb-1.1.0&rect=123%2C89%2C2327%2C1571&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">It all begins with spitting in a tube like this one.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/laughingsquid/6147462144">Scott Beale/Laughing Squid</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span></figcaption></figure><p>Aggressive marketing techniques and the popularization of “gifting” recreational ancestry tests has led more consumers than ever to the world of personal genetic testing. Yet, the recent arrest of the Golden State Killer suspect has heightened concerns about privacy and ethics because of the way law enforcement <a href="https://arstechnica.com/tech-policy/2018/04/gedmatch-a-tiny-dna-analysis-firm-was-key-for-golden-state-killer-case/">used a third-party DNA interpretation company</a> to identify close relatives and hone in on a likely culprit. </p>
<p><a href="https://sites.google.com/site/interpretyourgenome/home/using-gedmatch">The company, GEDmatch,</a> is well-known among genetic genealogy enthusiasts. When consumers want to learn more about their relatives than previously revealed by commercial testing companies such as AncestryDNA or 23andMe, they can seek out third-party companies like this one for further interpretation of their DNA results.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=753&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=753&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=753&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=946&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=946&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=946&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Genetic genealogy companies mostly stick to ancestry information – but the raw DNA data they provide contains much more.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/wilmington-delaware-usa-april-25-2018-1077238559">Khairil Azhar Junos/Shutterstock.com</a></span>
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<p>But, in addition to clues about where your ancestors were from, DNA holds information about your own medical risks. Here, at the intersection of recreational genetic genealogy and personal health information, is where direct-to-consumer companies are generating some unintended spillover effects that can have personal consequences consumers may not be prepared for. </p>
<p>I approach this area from the medical side. <a href="https://scholar.google.com/citations?user=PMv5G4sAAAAJ&hl=en&oi=ao">My own work focuses</a> on how people use genomic information for personal health benefits. In particular, I’ve looked at when and how people decide to undergo genetic testing, and how they understand and cope with their results. </p>
<p>The rise of direct-to-consumer genetic testing has led to a sometimes dodgy do-it-youself world of genetics. It may provide access to personal genetic information for the masses, but in many cases, individuals aren’t fully aware of all they may find out, or how their data may be used.</p>
<h2>When genealogy interest leads to a health scare</h2>
<p>My interest in the unintended consequences of genealogy exploration started a few years back with a patient who sought help in interpreting data she received from a third-party company that suggested she was at increased genetic risk for breast cancer. Concern over what had been identified in the interpretation report ultimately led this patient to see a genetic counselor – a trained professional who can advise on the genetic risks for various diseases. The counselor eventually determined the result was nothing that warranted concern. This “false positive” case raised red flags for me. </p>
<p>I interviewed this patient to learn more about why she’d used this company (that I had never heard about previously) to learn about her breast cancer risk. It turned out she’d stumbled into the area of genetic testing for health risks due to an interest in genealogy. While watching Henry Louis Gates’ PBS show “<a href="http://www.pbs.org/weta/finding-your-roots/home/">Finding Your Roots</a>,” she saw an ad for one of the commercial direct-to-consumer companies that offered ancestry testing. </p>
<p>Once the patient learned her ancestry results, she also realized that an entire world had opened up in terms of other possible nuggets of information she could discover from her “raw” DNA data. So she purchased access to a third-party health app to interpret her raw DNA. It was these results – provided without consultation with a medical professional – which then led her to clinic. </p>
<p>Currently, there are <a href="https://thegeneticgenealogist.com/2013/09/22/what-else-can-i-do-with-my-dna-test-results/">many of these third-party apps or online services</a> available to consumers. They’re not regulated by the Food and Drug Administration since, as argued by the companies behind them, they just serve as a “<a href="https://doi.org/10.1007/s10897-018-0217-9">bridge to the literature</a>” and only provide access to the scientific evidence base.</p>
<h2>Wild West of raw DNA uploads</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=493&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=493&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=493&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=620&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=620&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=620&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Consumers can build chromosome maps of inheritance by uploading family members’ raw DNA to third-party apps.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/hamsters/9453821627">Miss Shari</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
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<p>My colleagues and I <a href="https://doi.org/10.1002/mgg3.340">surveyed customers of these third-party companies</a> to learn more about their motives for exploring the raw DNA data they’d received from commercial testing companies. Approximately two-thirds of consumers we surveyed were highly motivated to explore raw DNA for ancestral details. Forty percent were interested in both ancestry and health information.</p>
<p>Sixty-two percent of our respondents used GEDmatch, highlighting the extent to which DNA data that are heavily protected by companies such as <a href="https://www.ancestry.com/cs/legal/privacystatement">AncestryDNA</a> and <a href="https://www.23andme.com/about/privacy/">23andMe</a> are unguarded by consumers themselves. Many choose to freely upload that data in hopes of finding other relatives. Notably, almost three-quarters of consumers reported using more than one third-party company to interpret their DNA. </p>
<p>Some might argue these tools provide a beneficial service for consumers, particularly when it comes to learning more about their health risks. In cases where genetic risks are determined via clinically validated tests, it can be empowering. <a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html">Angelina Jolie</a> is the perfect example.</p>
<p>Yet, the validity of genetic tests that consumers have direct access to remains questionable. In fact, a recent article by scientists at one of the clinical testing labs that medical providers rely on reported that <a href="https://doi.org/10.1038/gim.2018.38">approximately 40 percent of results</a> reported from raw DNA interpretation were incorrect. Thus, 4 out of 10 people are told they have a greater risk for a disease, when they do not. That’s an exceedingly high number of individuals to stress out with a false positive result. </p>
<p>My ongoing work has found that “worry” is the primary driver for patients to seek out medical assistance in raw DNA interpretation. As such, this false positive rate has a notable downstream burden on the healthcare system.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=372&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=372&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=372&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=467&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=467&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=467&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Genetic counselors have professional training in interpreting DNA test results and advising patients.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/professional-business-meeting-young-couple-customers-263174351">Jeanette Dietl/Shutterstock.com</a></span>
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<p>Social media sites like Reddit are filled with examples of consumers who are confused about how to interpret the reports generated from some of these third-party companies, which vary greatly in clarity and quality. Or, they have learned from a report they might have a BRCA variant that might confer high risk for breast and ovarian cancer, and ask other site users for help in understanding whether their result is real. It doesn’t have to be this way; there are genetic counselors who specialize in interpreting these kinds of results and helping patients figure out what to do. </p>
<p>Genetic counselors, meanwhile, are frustrated. The message from commercial testing companies has led to unrealistic expectations from consumers about what they can learn about themselves. It’s challenging for <a href="https://doi.org/10.1093/tbm/ibx009">counselors to correct misconceptions</a>, especially when they are met with resistance from patients.</p>
<h2>The gift of DNA knowledge?</h2>
<p>2017 was the year <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">commercial direct-to-consumer testing exploded</a>. 2018 may be the year users rethink the value of this gift, or at least how to use it. Once the genie is out of the bottle, it isn’t going back. The Golden State Killer arrest is only highlighting that the ramifications of genetic genealogy and widespread use of third-party DNA sites are broader than consumers could have ever anticipated.</p><img src="https://counter.theconversation.com/content/93836/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Catharine Wang receives funding from the National Human Genome Research Institute. </span></em></p>More people are sending off saliva samples to find out about their genetic roots. But the raw DNA results go way beyond genealogical data – and could deliver unintended consequences.Catharine Wang, Associate Professor of Community Health Sciences, Boston UniversityLicensed as Creative Commons – attribution, no derivatives.