tag:theconversation.com,2011:/global/topics/23andme-8112/articles23andMe – The Conversation2023-10-22T11:41:39Ztag:theconversation.com,2011:article/1936152023-10-22T11:41:39Z2023-10-22T11:41:39ZThe 23andMe data breach reveals the vulnerabilities of our interconnected data<figure><img src="https://images.theconversation.com/files/554853/original/file-20231019-20-wrblg3.jpg?ixlib=rb-1.1.0&rect=13%2C0%2C3040%2C1964&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Users' genetic information was accessed during a hacker attack on the 23andMe's user databases.</span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>On Oct. 6, news broke that 23andMe, the genomics company that collects genetic material from thousands of people for ancestry and genetic predisposition tests, <a href="https://www.wired.com/story/23andme-credential-stuffing-data-stolen/">had a massive data breach</a>. </p>
<p>But as it turns out, the company’s servers were not hacked. Rather, hackers targeted hundreds of individual user accounts — allegedly those that had <a href="https://blog.23andme.com/articles/addressing-data-security-concerns">repeated passwords</a>. After gaining access to the accounts, hackers could leverage the “<a href="https://customercare.23andme.com/hc/en-us/articles/115004659068-DNA-Relatives-The-Genetic-Relative-Basics">DNA relatives matches</a>” function of 23andMe to get information about thousands of other people.</p>
<p>This data breach challenges how we think about privacy, data security and corporate accountability in the information economy.</p>
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<figcaption><span class="caption">Hackers targeted user passwords to access 23andMe’s user data.</span></figcaption>
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<h2>Shared information</h2>
<p>Genetic information databases have a notable feature: anyone’s DNA data also reveals information about others who share part of their genetic code with them. When someone sends a sample to 23andMe, the company has genetic information about that person <em>and</em> their relatives even if those relatives didn’t send a sample or consent to any data collection. Their data is inevitably intertwined.</p>
<p>This isn’t just a characteristic of genetic data. Most data is about more than one person because data often describes shared features between people.</p>
<p>The ramifications of overlooking how personal data affects others <a href="https://www.forbes.com/advisor/business/what-is-data-breach/">extend to the entire information economy</a>. Every individual choice about personal data has spillover effects on others. People are exposed to consequences — ranging from financial loss to discrimination — stemming from data practices that depend not only on information about themselves, but also on information about others. </p>
<p>User data-collection agreements can lead to indirect harm to third parties. For example, the negative impacts of the <a href="https://www.nytimes.com/2018/04/04/us/politics/cambridge-analytica-scandal-fallout.html">Cambridge Analytica scandal extended</a> far beyond those whose data the company collected.</p>
<p>This predicament underscores the collective impact of individual data decisions. </p>
<h2>Data analytics</h2>
<p>Algorithms powered by artificial intelligence draw inferences by analyzing the relationships between data points. AI algorithms rely on databases containing information about multiple people to learn things about a particular person or a particular group. </p>
<p>Companies draw conclusions about people by analyzing data collected from others, making probabilistic assessments based on personal characteristics and relationships. Companies continue to add information about people to their datasets daily. And, the more people a dataset like the one built by 23andMe includes, the less someone’s choice not to be part of it matters.</p>
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<a href="https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="a thumb presses a heart button on a smartphone screen" src="https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=391&fit=crop&dpr=1 600w, https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=391&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=391&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=492&fit=crop&dpr=1 754w, https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=492&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/554855/original/file-20231019-18-a4ar1v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=492&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">AI-powered algorithms analyze user information and the connections and relationships with other people’s data.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
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<p>Similarly, every time a user agrees to the collection, processing or sharing of personal information, it also affects others who share similarities with the user. These collective assessments make data processing profitable, such as through marketing, data sales and business decisions based on consumer behaviour. </p>
<h2>Equity issues</h2>
<p>The interconnected nature of data isn’t a coincidence — it’s at the core of how businesses operate in the information economy. This also creates equity issues.</p>
<p>In the 23andMe case, hackers are offering the assembled genetic information for sale, <a href="https://www.reuters.com/technology/hackers-advertise-sale-23andme-data-leaked-data-forum-2023-10-06/">with lists that include thousands of people</a>. Hackers reportedly assembled and put up for sale <a href="https://nationalpost.com/news/hacker-puts-millions-of-23andme-user-data-up-for-sale-on-the-internet">lists of people with Ashkenazi Jewish ancestry</a>. </p>
<p>Individuals on the list now face increased risk of discrimination or harassment, as leaked data includes names and location. Other information from the company would allow them to do the same for people with a propensity for Type 2 diabetes, Parkinson’s disease or dementia — all of which 23andMe measures — putting them at risk of other harms, from raised insurance premiums to employment discrimination. </p>
<h2>Data’s collective risks</h2>
<p>We often fail to acknowledge the interconnected nature of data because we’re fixated on each individual. As a consequence, companies can exploit one person’s agreement to legitimize data practices involving others. Companies’ legal obligations to obtain individual agreements for data collection fail to recognize broader interests beyond those of the person who agreed. </p>
<p>We need privacy laws attuned to how the information economy works. Providing consent on behalf of others, as 23andMe users did when they clicked “I agree,” would be illegitimate under any meaningful notion of consent. To contain group data harms like those this hack produced, we need substantive rules about what companies can and can’t do. </p>
<p>Prohibitions on indiscriminate data collection and risky data uses avoid leaving unsuspecting individuals as collateral damage. Because corporate data practices can impact <em>everyone</em>, their safety obligations should too.</p>
<p><em>This is a corrected version of a story originally published on Oct. 22, 2023. The earlier story incorrectly said that 23andMe was owned by Google, the data breach was as a result of weak rather than repeated passwords, and affected the public, rather than users of 23andMe’s services who opted into the “DNA relatives matches” feature.</em></p><img src="https://counter.theconversation.com/content/193615/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ignacio Cofone 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>Our online data is inevitably intertwined with the data of others. Current protections are ill-equipped to address this reality and manage the far-ranging impacts of data breaches.Ignacio Cofone, Associate professor, Law, McGill UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/2084162023-06-29T15:01:08Z2023-06-29T15:01:08ZResearchers can learn a lot with your genetic information, even when you skip survey questions – yesterday’s mode of informed consent doesn’t quite fit today’s biobank studies<figure><img src="https://images.theconversation.com/files/534693/original/file-20230628-29-j4a0gl.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C1999%2C1499&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Participants in biobank studies are often asked for broad consent to use their data.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/genetic-research-royalty-free-image/136810911">Science Photo Library - TEK IMAGE/Brand X Pictures via Getty Images</a></span></figcaption></figure><p>Imagine you agreed to be part of a new and exciting long-term research study to better understand human health and behavior. For the past few years, you’ve been visiting a collection site where you fill out some questionnaires about your health and daily activities. Research assistants take your height, weight and some other physical characteristics about you. Because you agreed to contribute your genetic data to the study, you also provided a saliva sample during your first visit.</p>
<p>Later, you see a news article reporting that researchers analyzing data from the study you’re participating in have <a href="https://www.vox.com/science-and-health/2018/8/23/17527708/genetics-genome-sequencing-gwas-polygenic-risk-score">found genetic variants</a> that predict the likelihood of someone completing college. You remember reading a long form when you consented to giving your data, but you can’t quite remember all the details. You know the study was about health, but how do these findings about genes and education have anything to do with health? Did they analyze your data specifically? What did they find? </p>
<h2>What are biobanks?</h2>
<p>Many scientific research studies collect data meant to answer a specific research question. For example, to study the genetics of diabetes, researchers might collect data on your blood pressure and lipid levels in addition to genetic data. But increasingly, scientists are collecting large amounts of data to be <a href="https://doi.org/10.1186/s12967-019-1922-3">kept in biobanks</a> – repositories that store genetic data and other biospecimens like blood, urine or tumor tissue to be used in a wide number of future studies.</p>
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<figcaption><span class="caption">Biobank data is often used to conduct genome-wide association studies, or GWAS.</span></figcaption>
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<p>Some biobanks, like the <a href="https://www.ukbiobank.ac.uk">UK Biobank</a>, link biospecimen data to other collected data, such as sexual behavior, medical history, weight, diet and lifestyle. Private companies <a href="https://theconversation.com/how-a-south-african-communitys-request-for-its-genetic-data-raises-questions-about-ethical-and-equitable-research-166940">like 23andMe</a> also obtain consent from their customers to have their data used in research efforts.</p>
<p><a href="https://scholar.google.com/citations?user=zCedU50AAAAJ&hl=en&oi=ao">As a researcher</a> interested in the intersection between <a href="https://www.robbeewedow.com">social behaviors and genetics</a>, I frequently have conversations with people who weren’t aware of how their genetic data is being used. They’re often surprised that the genetic data they consented to be used for research at a private company by using a DNA testing kit or at a biobank while visiting their local clinic might be used to study the genetics of <a href="https://doi.org/10.1126/science.aat7693">same-sex sexual behavior</a> or <a href="https://doi.org/10.1038/s41588-018-0309-3">risk-taking</a>. </p>
<p>In our newly published research, my colleagues and I found that even <a href="https://www.nature.com/articles/s41562-023-01632-7">choosing not to respond to survey questions</a> can reveal information about the population (we found that not responding to survey questions is correlated with a person’s education, health and income levels) if genetic data is available.</p>
<h2>Genetic data and informed consent</h2>
<p>The research that can be done with biobank data might sound scary, but it shouldn’t be. Genetic data, like the data used in our study, is de-identified. This means that it cannot be linked back to individual research participants, who remain anonymous. Further, genetic data for these sorts of genetic studies is used <a href="https://doi.org/10.1038/s43586-021-00056-9">at the aggregate level</a>, meaning it isn’t used to predict or evaluate any one particular individual’s responses or behaviors.</p>
<p>Researchers aren’t using genetic data to target individuals with certain genetic profiles. Almost all genetic research is used to better understand how health behaviors and other factors affect health and to figure out ways to improve outcomes. This goal is why most research participants agree to contribute their data to research in the first place: to help the world through science.</p>
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<figcaption><span class="caption">Many developments in human subject protections arose in response to unethical research.</span></figcaption>
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<p>The problem is whether research participants really understand how their data can be used. Many of the original ideas around the development of the <a href="https://doi.org/10.1186/s12910-019-0414-6">informed consent process and Institutional Review Boards</a>, or IRBs, intended to protect research participants from direct harm or privacy violations were based on the expectation that research studies would be addressing particular questions about a single subject, like cardiovascular disease or lung cancer. This focus was so as not to repeat unethical research atrocities like the infamous <a href="https://www.cdc.gov/tuskegee/timeline.htm">Tuskegee Syphilis Study</a>, where researchers did not tell participants, who were all Black men, that they had syphilis and withheld treatment that was already widely available and known to be highly effective.</p>
<p>But since genetic data is de-identified, it is <a href="https://www.hhs.gov/ohrp/node/4350/index.html">often considered exempt from full IRB review</a>, which is a protocol to ensure studies meet ethical standards and institutional policies. And the broad number of research questions that can be explored with biobanks, along with the amount and types of data collected, has made these original protections to ensure truly informed consent insufficient.</p>
<h2>Improving informed consent</h2>
<p>To be clear, biobanks are enormously important for public health research. They allow researchers to <a href="https://theconversation.com/people-dont-mate-randomly-but-the-flawed-assumption-that-they-do-is-an-essential-part-of-many-studies-linking-genes-to-diseases-and-traits-194793">link many different outcomes and variables</a> together to paint a critical overall picture of human health and behavior. And in contrast with the <a href="https://theconversation.com/most-americans-dont-realize-what-companies-can-predict-from-their-data-110760">personally identifiable online or phone data</a> that companies collect to show you targeted ads, biobanks collect de-identified data that is evaluated in aggregate.</p>
<p>In the age of vast data collection, ensuring that participants are aware of how their data can and cannot be used is necessary to ensure that biobanks are a transparent tool for global good. Biobanks can’t predict how a participant’s data will be used in the future, so it can be difficult for researchers and ethicists to bring back the “informed” part of “informed consent.” Even so, more needs to be done to earn the trust of the valuable research participants who contribute the data to improve science and the world.</p><img src="https://counter.theconversation.com/content/208416/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Robbee Wedow is a research fellow at AnalytiXIN, which is a consortium of health-data organizations, industry partners and university partners in Indiana primarily funded through the Lilly Endowment, IU Health and Eli Lilly and Company.</span></em></p>Biobanks collect and store large amounts of data that researchers use to conduct a wide range of studies. Making sure participants understand what they’re getting into can help build trust in science.Robbee Wedow, Assistant Professor of Sociology and Data Science, Purdue UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1992662023-04-23T14:54:08Z2023-04-23T14:54:08ZDoes our DNA really determine our intelligence and health?<p>In a recent article <a href="https://www.nature.com/articles/s41588-022-01242-5">from Nature Genetics_</a>, scientists raise concerns over the social impacts of recent advances in genomics - i.e. the study of genomes, or in other words, the genetic material of an individual or species. In passages bringing to mind the <a href="https://www.youtube.com/watch?v=W_KruQhfvW4">dystopian sci-fi film <em>Gattaca</em></a>, they describe a near future in which one’s DNA could foretell one’s physical and intellectual abilities and near-perfect children be conceived <em>in vitro</em>.</p>
<p>Indeed, on the surface, it would appear reality is catching up with fiction. We now live in a world where it is now possible to look at the entire genome in a bid to identify the genetic causes of complex diseases. Recent research in genome-wide association studies (GWAS) claims to have pinned down the genetic variants responsible for developing diseases or traits such as drug addiction, antisocial behaviour or intellectual aptitudes.</p>
<p>However, these views are flawed because they are based on a series of errors and misunderstandings; we will now proceed to unpacking them. </p>
<h2>What is a GWAS?</h2>
<p>GWAS seek to highlight differences in allele frequency of markers depending on the expression of the studied trait. The markers can be considered as small flags planted along the genome, each flag having two possible colours (the alleles). The idea behind GWAS is that an association between a marker and a trait allows for the detection of genetic factors independently of environmental factors. This can be done both on quantitative traits (such as height) and diseases.</p>
<p>In the latter case, scientists compare markers between groups of affected and healthy individuals. Each identified marker is then assigned a coefficient that is supposed to represent the strength of its association with the disease. An overall score - known as the <em>Polygenic Risk Score</em> - is finally calculated to represent the level of risk of developing the disease in question.</p>
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<figcaption><span class="caption">The trailer of the 1997 American dystopian science fiction thriller film, <em>Gattaca</em>.</span></figcaption>
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<h2>A new market</h2>
<p>As early as 2007, companies began selling disease risk predictions based on saliva samples. Located in South San Francisco, the biotech and genomics company 23andMe collected over a million DNA samples before being ordered by the FDA in <a href="https://www.businessinsider.com/fda-sends-warning-letter-to-23andme-2013-11?r=US&IR=T">2013</a> to cease its activities for want of clinical evidence.</p>
<p>23andMe managed to keep its doors open by changing its approach and collecting DNA to map out the geographical origins of people’s ancestors. An important part of these DNAs has been made available to scientific teams, allowing them to perform and publish GWAS on huge samples. Initially carried out on hundreds of individuals, GWAS rapidly expanded to millions of people. In the past fifteen years, many studies have claimed to have detected genetic factors that could predict not only our risk of disease, but also our intellectual abilities or social adaptation.</p>
<p>For example, a 2018 <a href="https://www.nature.com/articles/s41588-018-0152-6">study</a> on the educational achievements of nearly 270,000 individuals said it had identified more than a thousand genetic factors responsible for “intelligence”. Four years later, a study based on <a href="https://www.nature.com/articles/s41588-022-01016-z">3 million individuals</a> found the number of genetic factors multiplied by 4. In this spirit, a simple DNA swab would be enough to predict the number of years we were destined to study or <a href="https://www.nature.com/articles/s41586-022-05477-4">whether we would end up as serial smokers or alcoholics</a>.</p>
<h2>The mistaken assumptions behind Polygenic Risk Scores</h2>
<p>The problem is that these conclusions are based on erroneous assumptions and misinterpretation of associations between the traits to be predicted and genetic markers.</p>
<p>Indeed, Polygenic Risk Scores are specifically based on assumptions put forward in 1965 by <a href="https://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.1965.tb00500.x">Douglas Scott Falconer</a>. Among these hypotheses, it is excluded from the outset that an environmental factor can play an important role in the expression of the trait, even though we know how much lifestyle choices can impact our health. Environmental factors are also thought to impact the individual at random - regardless of their family, social and professional conditions. Last but not least, it is assumed that the pathological processes at the root of the disease are the same for all, when we know that all diseases are very heterogeneous.</p>
<h2>Misinterpretations of the GWAS studies</h2>
<p>Another problem is that Polygenic Risk Scores are based on a flawed interpretation of the GWAS studies. For if the link between a trait and genetic marker could indeed indicate a genetic factor, this remains to be confirmed by subsequent family and functional studies. Associations could just as well reflect environmental or cultural factors.</p>
<p>For example, a GWAS study comparing people in France who consume salted butter with those who consume unsalted butter would show a large number of genetic markers associated with this trait. Not because it would reveal genetic factors conferring a particular taste for salted butter, but because these markers differ between Brittany and other French regions. The problem of interpreting associations also arises for traits that are due to complex interactions between genetic and environmental factors. For example, associations observed between markers and body mass index (BMI) may reflect sociocultural differences, particularly differences in eating habits. This will also be the case for all diseases associated with BMI (diabetes, cardiovascular diseases, breast cancer etc.).</p>
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<img alt="" src="https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=259&fit=crop&dpr=1 600w, https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=259&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=259&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=326&fit=crop&dpr=1 754w, https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=326&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/507620/original/file-20230201-14-eonm5f.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=326&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">Example of a graphical representation of a GWAS study of kidney stones.</span>
<span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:Manhattan_plot_from_a_GWAS_of_kidney_stone_disease.png">Sarah A. Howles/Wikipedia</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
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<p>These false conclusions have serious consequences, as clinicians increasingly turn to risk calculation tools based on these scores.</p>
<h2>Sociological consequences</h2>
<p><a href="https://www.science.org/doi/10.1126/science.1198102">Already denounced in 1975 by Marcus Feldman and Richard Lewontin</a> and in 1978 <a href="https://eudml.org/doc/198864">by Albert Jacquard</a>, the fanciful interpretations of the Intelligence Quotient (IQ) have resurfaced with the idea that your IQ can be predicted from birth based on your DNA.</p>
<p>The IQ variable was originally thought out as a tool to measure the adequacy of a child to a given school programme. It is not a universal and timeless measure of cognitive abilities, or even of intelligence. Even if we restrict ourselves to France, we cannot compare the mental arithmetic performance of children aged 9 today with those of a century ago, for the simple reason that they were not trained in the same way.</p>
<p>Unfortunately, many so-called “socio-genomic” studies are advancing the idea that we are genetically predetermined to perform well or poorly in school. These ideas are widely disseminated by the scientific press, the mainstream media and books by psychologists such as <a href="https://press.princeton.edu/books/hardcover/9780691190808/the-genetic-lottery">Paige Harden</a> and <a href="https://mitpress.mit.edu/9780262039161/blueprint/">Plomin</a>. In light of these ideas, we would be forgiven for asking ourselves about the point of promoting education for all when some are, so to speak, “genetically impervious”.</p>
<h2>Ethical implications</h2>
<p>Polygenic scores are also used by some to differentiate populations according to traits such as intelligence, thereby justifying racist views or eugenic behaviour.</p>
<p>For example, in the <a href="https://www.sciencedirect.com/science/article/abs/pii/S0160289615001087">journal “Intelligence ”</a> , after comparing IQ score of different geographical areas, the author concluded that the genetic factors contributing to intelligence had been subjected to selection pressure during migration and would explain a higher intelligence in the European population than in the African population.</p>
<p>In his presidential address to the American Society of Human Genetics in 2015 [https://pubmed.ncbi.nlm.nih.gov/26942276/ref], geneticist Neil Risch mischievously commented the approach and conclusions. He calculated the scores of Craig Venter (pioneer of human genome sequencing) and James Watson (co-discoverer of the DNA structure). The result was that both have a score below the European average. Risch humorously concluded that a below-average score was enough to land a Nobel Prize or the Medal of Science.</p>
<h2>A flawed genetic model</h2>
<p>In addition to Nature Genetics, journals such as <a href="https://gwern.net/doc/genetics/selection/artificial/2023-meyer.pdf">Science</a>, or <a href="https://www.ashg.org/">societies devoted to human genetics</a> appear rightly concerned about the slippery slope toward genetic determinism we find ourselves on. But they merely raise ethical issues, failing to stress, in the process, that the root of the problem remains an inappropriate genetic model and the misinterpretation of associations with genetic markers.</p>
<p>It would be easy to caricature the scientific debate by labelling those who question the validity of genetic predictions as ‘environmentalists’. Yet to deny the validity of genetic predictions of complex traits is not to deny the effect of genetic factors on these traits. Rather, it is to <a href="https://www.mdpi.com/2075-4426/12/8/1266">challenge the assumptions on which these predictions are based</a>.</p>
<p>On a more positive note, these concerning developments should not obscure the valuable contribution of these new technologies when deployed correctly. In particular, studies described as “ post-GWAS ” have made it possible to highlight the role of certain genes or gene networks in diseases whose causes remain difficult to pin down <a href="https://pubmed.ncbi.nlm.nih.gov/34689168/">(cancers, neurological diseases…)</a>.</p><img src="https://counter.theconversation.com/content/199266/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Les auteurs ne travaillent pas, ne conseillent pas, ne possèdent pas de parts, ne reçoivent pas de fonds d'une organisation qui pourrait tirer profit de cet article, et n'ont déclaré aucune autre affiliation que leur organisme de recherche.</span></em></p>New genetic studies claim to be able to foretell our intelligence or predisposition to certain diseases. But two scientists beg to disagree, reminding us that not everything is written in our DNA.Françoise Clerget-Darpoux, Directeur de recherches émérite en génétique statistique, InsermEmmanuelle Genin, Directrice de Recherche en génétique statistique et des populations, InsermLicensed 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>
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<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>
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<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>
<p>[<em>Get the best of The Conversation, every weekend.</em> <a href="https://memberservices.theconversation.com/newsletters/?nl=weekly&source=inline-weeklybest">Sign up for our weekly newsletter</a>.]</p>
<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/1320822020-03-01T13:11:18Z2020-03-01T13:11:18ZHome genealogy kit sales plummet over data privacy concerns<figure><img src="https://images.theconversation.com/files/316958/original/file-20200224-24651-b4ukzm.jpg?ixlib=rb-1.1.0&rect=108%2C194%2C4795%2C3220&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Almost every genetic database shares information with the pharmaceutical industry but it wasn't until law enforcement started using the databases that consumers took note. </span> <span class="attribution"><span class="source">(Unsplash)</span></span></figcaption></figure><p>Surprising news recently emerged from the personal genetics business. The two leading direct-to-consumer companies in North America, <a href="https://www.cnbc.com/2020/01/23/23andme-lays-off-100-people-ceo-anne-wojcicki-explains-why.html">23andMe</a> and <a href="https://blogs.ancestry.com/ancestry/">Ancestry.com</a>, announced within a week of each other that they were laying off a significant proportion of their workforce as a result of a steep drop in sales. </p>
<p>This past Christmas, the sales of testing kits were expected to take a sharp hike — nothing says family like a gift that says prove it. But sales plummeted instead. </p>
<p>According to <a href="https://www.vox.com/recode/2020/2/13/21129177/consumer-dna-tests-23andme-ancestry-sales-decline">Second Measure</a>, a company that analyzes website sales, 23andMe’s business plummeted 54 per cent and Ancestry kits sales declined 38 per cent. </p>
<p>Industry executives, market watchers and genealogists have all speculated about the causes of the drop in consumer interest. Market saturation? Early adopters tapped out? Limited usefulness? Recession fears? Whatever the theory, everyone seems to agree on one factor: privacy concerns. </p>
<h2>Family privacy concerns</h2>
<p>For observers like me, who have been watching the trends in the industry of family history for years and have repeatedly raised concerns about genetic and family privacy, there’s a certain relief that consumers have taken notice.</p>
<p>Two third-party uses of genetic genealogy have given consumers pause for thought. </p>
<p>One: Almost every database shares information with the pharmaceutical industry. 23andMe was clear from the beginning that its health information would be used by its research partners and asked consumers to consent. But when it started to sign <a href="https://gizmodo.com/of-course-23andmes-business-plan-has-been-to-sell-your-1677810999">major deals with drug developers in 2015</a>, consumers began to realize that, once again, similar to social sharing platforms, they were the product. A fact not so surprising from a company whose initial investors were from Google and Facebook. </p>
<p>Still, as long as testing prices were low and continued to fall, consumers bought the sell. Companies promised consumers they were contributing to a greater good. Medical science could use their genetic information to develop treatments, even if they might never need the drugs (or indeed if any drugs would ever be developed). </p>
<p>So even though the companies were profiting from their information, the number of people sending in their spit grew exponentially. Business was going well. Then a second third-party use was revealed and sales started tumbling.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/317221/original/file-20200225-24685-qvlf5a.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">
<figcaption>
<span class="caption">The marketing emphasis on genealogy testing kits focused on discovering your family history. That may soon change.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
</figcaption>
</figure>
<h2>The sharp decline of sales</h2>
<p>Shortly after California detectives announced they had used GEDmatch, a public genetic genealogy database, to solve the cold case of a sadistic rapist and killer known as the <a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">Golden State Killer</a>, the exponential <a href="https://thednageek.com/genealogical-database-growth-slows/">rate of growth in the industry</a> began to decline. That 2018 case set off a wave of privacy concerns about genetic genealogy and divided people who had already submitted their samples. </p>
<p><a href="https://www.prnewswire.com/news-releases/parabon-announces-snapshot-genetic-genealogy-service-for-law-enforcement-300644394.html">Almost overnight, a new industry was hatched using genetic genealogy databases to solve cold cases</a>. GEDmatch, the company at the centre of the debate, was caught in the middle. </p>
<p>The GEDmatch founders, a couple of genealogists who just wanted to provide a place for genealogists to share DNA results without the privacy restrictions of the testing companies, eventually sold the company after attempting and failing to align its privacy policy with something viable for consumers and the company.</p>
<p>Sealing the marriage of genetic genealogy with policing, GEDmatch sold its database to <a href="https://theconversation.com/dna-database-sold-to-help-law-enforcement-crack-cold-cases-128674">Verogen, a forensics equipment company that services law enforcement</a>. Ironically, Verogen promised it would offer better privacy protections and resist police incursions. </p>
<p>Last winter, one of the major testing companies, <a href="https://www.buzzfeednews.com/article/salvadorhernandez/family-tree-dna-fbi-investigative-genealogy-privacy">Family Tree DNA, revealed that it had been co-operating with the FBI</a> unbeknownst to its users. Only a few weeks earlier <a href="https://health.usnews.com/wellness/articles/2019-01-07/best-dna-testing-kits"><em>U.S. News</em> had ranked the company’s privacy policy as one of the best in the industry</a>. Even a seasoned reporter studying the privacy policies closely could not discern that the company was sharing information without consumer consent. </p>
<h2>The future of privacy</h2>
<p>Initial responses from people who had already been tested seemed <a href="https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.2006906">to be heavily weighted in favour</a> of the ethics of catching violent criminals over personal privacy. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/317612/original/file-20200227-24694-dk6utk.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">
<figcaption>
<span class="caption">Gene kits will likely be sold with the idea of discovering more about your medical history and future. Here a cancer researcher sets up genetic samples to run a laboratory technique used to make multiple copies of a segment of DNA.</span>
<span class="attribution"><span class="source">(Unsplash)</span></span>
</figcaption>
</figure>
<p>But when GEDmatch users were given the opportunity to choose whether their data could be used by police, only 200,000 out of the 1.2 million users opted in, though some of that statistic could be a function of the new European data protection laws (GDPR). <a href="https://www.pewresearch.org/fact-tank/2020/02/04/about-half-of-americans-are-ok-with-dna-testing-companies-sharing-user-data-with-law-enforcement/">A more recent poll by the Pew Research Center</a> found that Americans were almost evenly split on questions of data privacy versus the greater good of solving cold cases. </p>
<p>The question Pew asked, however, did not address the nuanced question of what kind of crime? The type of crime matters. Recent cases, <a href="https://www.theatlantic.com/science/archive/2019/03/38-years-later-dna-leads-to-teenager-who-abandoned-her-baby-in-a-ditch/584683/">in particular of mothers who abandoned babies decades ago</a>, seem to test another kind of ethical limit. Should the databases be restricted to the search for violent criminals only? Cold cases only? What about nonviolent crime? Where do we draw the line?</p>
<p>What the poll statistics can’t measure is the number of people who have deleted their results. But no company will reveal that information. Anecdotal evidence comes from genealogists who saw a rapid decline in the number of cousin matches immediately after the revelations that law enforcement had been mining genetic genealogy data.</p>
<p>What will happen now? With the mounting privacy concerns and a plethora of <a href="https://fpf.org/2020/01/13/its-raining-privacy-bills-an-overview-of-the-washington-state-privacy-act-and-other-introduced-bills/">competing privacy bills in the works</a>, companies are pivoting away from ancestry testing to focusing on <a href="https://blog.nebula.org/30x-wgs/">whole gene testing health results.</a> They are also testing in countries where the market uptake has been slow. <a href="https://exame.abril.com.br/ciencia/atrasado-brasil-tera-seu-primeiro-mapeamento-genetico-da-populacao/">Google has just announced that it will sponsor DNA collection in Brazil</a>. </p>
<p>In the face of a slowdown in genetic ancestry testing, the existential question of “Who do you think you are?” is turning to the question of “What lurks inside us?” </p>
<p>Expect less marketing about the past and more about the future, less about the thrills of ancestral stories and more about the health risks we have inherited and threaten to pass on, all couched in the same upbeat language of self-knowledge — to be shared widely.</p><img src="https://counter.theconversation.com/content/132082/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Julia Creet receives funding from The Office of the Privacy Commissioner of Canada and the Social Science and Humanities Council of Canada. </span></em></p>Privacy concerns that emerged since law enforcement started mining the databases have put such a serious dent in the business that both Ancestry.com and 23andMe have reduced employees significantly.Julia Creet, Professor of English, York University, CanadaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1299762020-01-20T19:03:29Z2020-01-20T19:03:29ZCousin took a DNA test? Courts could use it to argue you are more likely to commit crimes<figure><img src="https://images.theconversation.com/files/310114/original/file-20200115-151887-13xn95.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C5414%2C3424&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA from relatives could be used in sentencing offenders.</span> <span class="attribution"><span class="source">MR Yanukit / Shutterstock</span></span></figcaption></figure><p>How similar do you think you are to your second cousin? Or your estranged great aunt? </p>
<p>Would you like to have people assess your behaviour from what your great aunt has done? How would you feel if courts used data gained from them to decide how you are likely to behave in the future?</p>
<p>Scientists are making connections between a person’s DNA and their tendencies for certain kinds of behaviour. At the same time, commercial DNA databases are becoming more common and police are gaining access to them. </p>
<p>When these trends combine, genetic data inferred about offenders from their relatives might one day be used by courts to determine sentences. In the future, the data from your great aunt could be used by a court to determine how severely you are punished for a crime.</p>
<h2>DNA databases can be used to identify relatives of criminals</h2>
<p>A Florida judge recently approved a warrant to search a genetic genealogy database, <a href="http://www.gedmatch.com/">GED Match</a>. This American company has <a href="https://www.thetelegraph.com/news/article/Florida-judge-grants-police-warrant-to-access-14823041.php">approximately 1.3 million users</a> who have uploaded their personal genetic data, with the assumption of privacy, in the hope of discovering their family tree. </p>
<p>The court directly overruled these users’ request for privacy and now the company is obliged to hand over the data.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/if-youve-given-your-dna-to-a-dna-database-us-police-may-now-have-access-to-it-126680">If you've given your DNA to a DNA database, US police may now have access to it</a>
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<p>Police can search through the genetic database to identify people who are likely to be relatives of a person who left DNA at a crime scene. Then, by creating a family tree, police may be able to work out the probable identity of the criminal they are looking for. </p>
<p>This is how the infamous Golden State Killer was <a href="https://www.theatlantic.com/science/archive/2018/04/golden-state-killer-east-area-rapist-dna-genealogy/559070/">identified</a>, many years after his serial killings.</p>
<h2>Genealogy databases and sentencing</h2>
<p>So far, prosecutors have used DNA evidence to persuade courts that a defendant was present at the scene of a crime and is likely to have committed it. But what if they want to use DNA evidence at sentencing to show the defendant is dangerous, and thus merits a longer sentence?</p>
<p>Genetic information – including from relatives – can be used not just to identify who you are, but to work out your likely behavioural and psychological features. The science is still in its infancy, but many traits are influenced by one’s DNA, including <a href="https://www.nature.com/articles/s41398-019-0513-7">aggression</a>. </p>
<p>This DNA information may well be used in the criminal justice system, in order to predict how a person may behave in the future.</p>
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<em>
<strong>
Read more:
<a href="https://theconversation.com/dna-database-sold-to-help-law-enforcement-crack-cold-cases-128674">DNA database sold to help law-enforcement crack cold cases</a>
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<p>Let’s assume the prosecution wants to show an offender is dangerous. Some <a href="https://science.sciencemag.org/content/297/5582/851">research</a> has suggested males with a low-activity monoamine oxidase A gene (MAOA), who experienced maltreatment when young, are significantly more likely to be impulsive and aggressive than the general population. </p>
<p>So if genetic data inferred from an offender’s relatives in a database suggests they have low-activity MAOA, and there is evidence about the offender’s adverse childhood, an expert witness might argue their likely impulsivity and aggression presents an increased risk of future violence. </p>
<p>This might be used by the prosecution to make the case for a longer sentence. In some jurisdictions and circumstances, the prosecution may have a means of obtaining a sample of DNA directly from the offender. But where this is not legally possible without the offender’s consent, the inference from relatives might fill a gap in the prosecution’s case about how dangerous the offender is.</p>
<p>In short, the prosecution may be able to discover previously private information about offenders, which could be used in creative and concerning ways to argue for more severe punishment.</p>
<h2>Reasons to be concerned</h2>
<p>The stumble towards using this technology is unsettling on several fronts. It seems to provide luck with a disconcerting role in punishment. Should the way our carers treated us when we were young, and the genetic constitution of relatives (perhaps even those who we have never met), really have a significant role in how we are evaluated and sentenced? </p>
<p>A second issue is privacy. When you contribute your DNA to a genetic genealogy database, are you happy with the thought that your contribution might be used in criminal proceedings against a relative to argue for an extra year to be added to their sentence? </p>
<p>Once the DNA data is submitted, courts, governments, and businesses for generations to come will be able to infer the genetic constitution of your relatives.</p>
<p>Companies that collect genetic data, <a href="https://www.23andme.com/">23andMe</a> and <a href="https://www.ancestry.com/">Ancestry.com</a>, make a profit through selling it to researchers and other companies. The monetisation of this data is already under way, with 23andMe last week <a href="https://www.bloomberg.com/news/articles/2020-01-09/23andme-licenses-drug-compound-to-spanish-drugmaker-almirall?in_source=postr_story_0">announcing</a> they are licensing a drug created using their databases.</p>
<p>Since the Cambridge Analytica scandal there is good reason to worry about the dangers of businesses like these, which collect highly detailed information about the public in order to sell it for a profit.</p>
<p>Next time your family gathers together, you might want to discuss some of these issues. Who do you want to have your genetic data for generations to come? And how do you want it to be used?</p><img src="https://counter.theconversation.com/content/129976/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 organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>When DNA databases and behavioural genetics combine, your family’s genes could play a role in criminal sentencingAllan McCay, Law Teacher, University of SydneyChristopher Lean, Postdoctoral research associate, University of SydneyLicensed 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/1266802019-11-12T21:17:53Z2019-11-12T21:17:53ZIf you’ve given your DNA to a DNA database, US police may now have access to it<figure><img src="https://images.theconversation.com/files/301191/original/file-20191112-178511-1bnej52.jpg?ixlib=rb-1.1.0&rect=5%2C0%2C1791%2C1193&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA database giant Ancestry lets members access international records including the convict and free settler lists, passenger lists, Australian and New Zealand electoral rolls and military records.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/aspidoscelis/4461828038/">Patrick Alexander/Flickr</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>In the past week, <a href="https://www.thetelegraph.com/news/article/Florida-judge-grants-police-warrant-to-access-14823041.php">news has spread</a> of a Florida judge’s decision to grant a warrant allowing police to search one of the world’s largest online DNA databases, for leads in a criminal case.</p>
<p>The warrant reportedly approved the search of <a href="https://opensource.com/resources/what-open-source">open source</a> genealogy database <a href="https://www.gedmatch.com/login1.php">GEDMatch</a>. An estimated 1.3 million users have uploaded their DNA data onto it, without knowing it would be accessible by law enforcement. </p>
<p>A decision of this kind raises concern and sets a new precedent for law enforcement’s access to online DNA databases. Should Australian users of online genealogy services be concerned? </p>
<h2>Why is this a big deal?</h2>
<p>GEDmatch lets users upload their raw genetic data, obtained from companies such as Ancestry or 23andMe, to be matched with relatives who have also uploaded their data. </p>
<p>Law enforcement’s capacity to use GEDmatch to solve crimes became prominent in April last year, when it was used to solve the <a href="https://www.nytimes.com/2018/04/26/us/golden-state-killer.html">Golden State Killer case</a>. After this raised significant public concern around privacy issues, GEDmatch <a href="https://www.forensicmag.com/news/2019/05/gedmatch-changes-blow-law-enforcement-and-forensic-genealogy?cmpid=horizontalcontent">updated its terms and conditions in May</a>. </p>
<p>Under the new terms, law enforcement agencies can only access user data in cases where users have consented to use by law enforcement, with <a href="https://www.nytimes.com/2019/11/05/business/dna-database-search-warrant.html">only 185,000 people opting in so far</a>.</p>
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Read more:
<a href="https://theconversation.com/no-mr-dutton-dna-testing-isis-brides-wont-tell-you-whos-an-australian-citizen-125712">No, Mr Dutton, DNA testing ISIS brides won't tell you who's an Australian citizen</a>
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<p>The terms of the warrant granted in Florida, however, allowed access to the full database - including individuals who had not opted in. This directly overrides explicit user consent. </p>
<p>GEDmatch reportedly complied with the search warrant within 24 hours of it being granted. </p>
<h2>Aussies are also at risk</h2>
<p>GEDMatch is small fry compared with ancestry database giants Ancestry (<a href="https://www.ancestry.com/corporate/about-ancestry/company-facts">more than 15 million individuals</a>) and 23andMe (<a href="https://mediacenter.23andme.com/company/about-us/">more than 10 million individuals</a>), both of which have DNA data belonging to Australians.</p>
<p>Australians who wish to have ancestry DNA testing have to use US-based online companies. Thus, many Australians have data in databases such as Ancestry, 23andMe and GEDMatch. The granting of a warrant to search these databases by US courts means those searches could include Australian individuals’ data.</p>
<p><a href="https://www.ancestry.com.au/cs/legal/lawenforcement">Ancestry</a> and <a href="https://www.23andme.com/en-int/law-enforcement-guide/">23andMe</a> both have policies saying they don’t provide access to their databases without valid court-mandated processes. </p>
<p>Each company produces a transparency report (see <a href="https://www.ancestry.com.au/cs/transparency">here</a> and <a href="https://www.23andme.com/en-int/transparency-report/">here</a>) which includes all requests for customer data that have been received and complied with. Currently, that number is low. But it remains to be seen how each would respond to a court-ordered search warrant.</p>
<p>Furthermore, while Australia currently doesn’t have it’s own genetic database (and no plans have been announced), the federal government’s commitment <a href="https://www.health.gov.au/ministers/the-hon-greg-hunt-mp/media/genomics-health-futures-mission-expert-advisory-committee-appointed">of A$500 million to the Genomics Health Futures Mission</a> indicates a growing interest in the power of genomics for health. </p>
<p>If Australia wants to remain internationally competitive, a national genetics project is a natural next step.</p>
<h2>We need DNA privacy legislation</h2>
<p>In Australia, courts can approve warrants that intrude into private information, and entities can only protect data to the extent that it’s protected by law.</p>
<p>Thus, the privacy policies of companies and organisations that hold genetic data (and other types of private data) usually include a statement saying the data will not be shared without consent “except as required by law”. </p>
<p>The Australian Information Commissioner can also <a href="https://www.oaic.gov.au/privacy/privacy-registers/public-interest-determinations-register/public-interest-determinations/">allow breaches of privacy in the public interest</a>.</p>
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Read more:
<a href="https://theconversation.com/what-does-dna-sound-like-using-music-to-unlock-the-secrets-of-genetic-code-78767">What does DNA sound like? Using music to unlock the secrets of genetic code</a>
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<p>It has been more than two decades since Senator Natasha Stott-Despoja proposed the <a href="https://www.aph.gov.au/Parliamentary_Business/Bills_Legislation/Bills_Search_Results/Result?bId=s156">Genetic Privacy and Non-Discrimination Bill</a>. </p>
<p>Although Australia has a patchwork of laws that protect citizens’ genetic data to an extent, we still have no specific genetic data protection legislation. A broader legal framework dealing directly with the protection of genetic information is now required. </p>
<p>Australian politicians have previously <a href="https://www.smh.com.au/politics/nsw/everybody-hates-a-welfare-rorter-latham-spruiks-dna-testing-plan-for-aboriginal-people-20190311-p513au.html">shown willingness to use genetic information for government purposes</a>. As genetic advances strengthen the promise of personalised medicine, Australian academics continue to <a href="https://www.itnews.com.au/news/get-a-warrant---fresh-dna-data-protection-demands-from-university-of-queensland-517046">call for urgent genetic data protection legislation</a>. This is important to ensure public trust in genetic privacy is maintained. </p>
<p>Ongoing concerns around <a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">genetic discrimination</a>, and <a href="https://www.smh.com.au/national/the-troubling-implications-of-my-health-record-s-genetic-info-plans-20180807-p4zvz1.html">other ethical concerns</a>, warrant an urgent policy response regarding the protection of genetic data.</p>
<h2>What are other countries doing?</h2>
<p>Globally, <a href="https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart">several DNA databases</a> have amassed genetic datasets of more than 1 million individuals, including for research purposes and healthcare improvement. </p>
<p>Few databases outside the US have yet to reach the numbers needed to be <a href="https://www.wired.com/story/genome-hackers-show-no-ones-dna-is-anonymous-anymore/">useful for identification purposes</a>. </p>
<p>However, many countries, particularly in Europe, have started establishing government-funded national databases of gene donor data, including <a href="https://biobanksverige.se/english/research/getting-started/about-biobank-sweden/">Sweden</a> and <a href="https://genomics.ut.ee/en/about-us/estonian-genome-centre">Estonia</a>.</p>
<p>The Estonian Biobank is one of the <a href="https://www.forbes.com/sites/yiannismouratidis/2019/01/30/estonia-houses-the-biggest-biobank-in-europe/#7aa76207227a">most advanced national DNA databases</a>. It has <a href="https://genomics.ut.ee/en/news/estonian-researchers-strive-personalise-healthcare">more than 200,000 donor samples</a>. </p>
<p>With a population of around 1.3 million people, the biobank represents around 15% of the entire country’s population. And <a href="https://www.riigiteataja.ee/en/eli/ee/508042019001/consolide">Estonian legislation</a> currently prohibits the use of donor samples for law enforcement.</p>
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Read more:
<a href="https://theconversation.com/from-the-crime-scene-to-the-courtroom-the-journey-of-a-dna-sample-82250">From the crime scene to the courtroom: the journey of a DNA sample</a>
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<p>In contrast, the <a href="https://www.ukbiobank.ac.uk/about-biobank-uk/">UK Biobank,</a> doesn’t have specific legislation controlling its operation. It only allows law enforcement agencies access <a href="https://www.ukbiobank.ac.uk/all-faqs/">if forced to do so by the courts</a>, leaving open the possibility of access under a court-ordered warrant. </p>
<p>The biobank currently has samples from <a href="https://www.nature.com/collections/bpthhnywqk">around 500,000 individuals</a>, but plans to collect <a href="https://www.bionews.org.uk/page_138891">at least 1 million more</a> in future. </p>
<p>In Australia, accessing DNA testing is now easier than ever. But those accessing it through US-based companies, or uploading their data to US-based databases, should be aware of the potential uses of their genetic information.</p>
<p>And as we moves into an era of genomic medicine, urgent policy attention is required from the Australian government to ensure public trust in genomics is maintained.</p><img src="https://counter.theconversation.com/content/126680/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jane Tiller 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>A US judge has allowed police access to the major DNA database without users’ consent (including Australian users). It’s a timely reminder that we urgently need genetic privacy legislation.Jane Tiller, Ethical, Legal & Social Adviser - Public Health Genomics, Monash 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">
<figcaption>
<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>
</figcaption>
</figure>
<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">
<figcaption>
<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>
</figcaption>
</figure>
<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/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>
<figcaption>
<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>
</figcaption>
</figure>
<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>
<figure>
<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>
</figure>
<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">
<figcaption>
<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>
</figcaption>
</figure>
<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/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>
<figure class="align-right zoomable">
<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>
<figcaption>
<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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</figure>
<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>
<p><iframe id="US8hj" class="tc-infographic-datawrapper" src="https://datawrapper.dwcdn.net/US8hj/4/" height="400px" width="100%" style="border: none" frameborder="0"></iframe></p>
<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>
<figure class="align-center zoomable">
<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/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>
<figure class="align-right zoomable">
<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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</figure>
<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/1107552019-02-05T13:41:01Z2019-02-05T13:41:01ZPersonal DNA tests might help research – but they put your data at risk<figure><img src="https://images.theconversation.com/files/256605/original/file-20190131-108338-1q2hixh.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=X3fDTVJfgabc-LLmvLaQgQ-1-53">Eetu Mustonen/Shutterstock</a></span></figcaption></figure><p>Your DNA has become a valuable commodity. Companies such as 23andMe may charge you for an analysis of your genetic profile, but they make their real money from <a href="https://www.theguardian.com/commentisfree/2018/aug/10/dna-ancestry-tests-cheap-data-price-companies-23andme">selling that data</a> on to other companies.</p>
<p>Now healthcare providers are following suit by encouraging patients to take genetic tests that will create databases ostensibly for medical research. Britain’s National Health Service (NHS) <a href="https://theconversation.com/nhs-plan-to-sell-genome-sequencing-to-healthy-people-is-premature-110619">recently announced</a> that it was launching such a scheme in an attempt to build a database of anonymised genetic data for researchers.</p>
<p>But <a href="https://www.irishtimes.com/news/health/hospital-investigates-release-of-dna-samples-to-research-firm-1.3773529">recent reports</a> that Our Lady’s Children’s Hospital, Crumlin in Dublin – Ireland’s largest children’s hospital – allegedly shared patient DNA data with a private firm without appropriate consent highlights the potential risk that comes with giving up your genetic records. Your DNA contains sensitive information that can be used to make important personal decisions about you and your family members. When you hand over these details to a large database – whoever is building it – you are ultimately risking it being used in ways you can’t foresee and which aren’t always to your benefit.</p>
<p>The first questions are where your data will end up and who will have access to it. The NHS is attempting to keep control of the genetic data it gathers by sharing it with researchers at its own company, <a href="https://www.genomicsengland.co.uk/">Genomics England</a>. But there has been no indication of what purposes the data can be used for, or what limits will be placed on its use or transfer to other research centres or companies. In the past, Genomics England <a href="https://theconversation.com/google-may-get-access-to-genomic-patient-data-heres-why-we-should-be-concerned-80417">met with Google</a> to discuss how the tech firm might help analyse genetic data gathered under a previous scheme, the <a href="https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/">100,000 Genomes Project</a>. </p>
<p>A spokesperson for Genomics England told The Conversation that it had “no formal contractual relationship between Genomics England and Google”. However, it said: “We have a mutual interest in secure data storage and we have meetings from time to time. As part of our mandate to stimulate the UK genomics industry, we are in touch with Google Ventures. They invest in life sciences companies which may be interested in working with us.”</p>
<p>The recent Irish example of data transfer apparently without appropriate consent also reminds us that agreements and rules over who can access data can be broken. In January 2019, <a href="https://www.thetimes.co.uk/edition/ireland/crumlin-hospital-sent-dna-off-without-consent-mm5crwng0">an investigation was launched</a> into the alleged supply of 1,500 DNA samples from the Crumlin children’s hospital to Genomics Medicine Ireland (GMI) without proper authorisation from patients. </p>
<p>If these allegations are true, it would represent a breach of European data protection law, which requires explicit consent for the processing of DNA data. What is perhaps <a href="https://ieeexplore.ieee.org/document/8470173">more of a problem</a> is that even when people are told what will happen with their data, they may not understand those uses or its <a href="https://philpapers.org/rec/SCHTCO-98">potential consequences</a>.</p>
<p>Initiatives such as the NHS project are justified by claims that they offer an efficient way to <a href="https://theconversation.com/why-the-100-000-genomes-project-will-focus-on-rare-diseases-36155">diagnose rare</a> or undiscovered illnesses, speeding up treatment and improving patient outcomes. More broadly, proponents argue, <a href="https://theconversation.com/how-big-data-is-being-mobilised-in-the-fight-against-leukaemia-74281">sharing DNA data</a> can allow researchers to spot patterns that would otherwise go unidentified, increasing scientific understanding and aiding in the development of treatments.</p>
<p>But having your DNA sequenced isn’t just a way of finding out if you are at risk of a disease or making an altruistic contribution to an abstract research project. DNA data exposes our most inherent characteristics, revealing ethnic or racial groupings, as well as outlining current and future health issues. Some people have even tried to link <a href="https://www.technologyreview.com/s/610339/dna-tests-for-iq-are-coming-but-it-might-not-be-smart-to-take-one/">DNA tests to intelligence</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.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">
<figcaption>
<span class="caption">DNA files can easily be transferred.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/genetic-engineer-working-analysis-dna-software-509467522?src=FqZaNnPBF2eO5RdpUEstRA-1-28">Angellodeco/Shutterstock</a></span>
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</figure>
<p>Concerns about linking individuals to the characteristics revealed by their DNA are usually countered by claims that the data is anonymised. But both <a href="https://www.telegraph.co.uk/news/health/news/10656893/Hospital-records-of-all-NHS-patients-sold-to-insurers.html">practical experience</a> and <a href="http://science.sciencemag.org/content/347/6221/536.full#ref-26">academic work</a> have shown that anonymised data can often be <a href="https://www.nature.com/articles/srep01376">reassociated with</a> the people it was collected from.</p>
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Read more:
<a href="https://theconversation.com/your-nhs-data-is-completely-anonymous-until-it-isnt-22924">Your NHS data is completely anonymous – until it isn't</a>
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<p>So sharing your genetic information could expose you to potential discrimination if it ends up with the wrong people or is used for the wrong purposes. Being offered different health insurance coverage and at different prices is the most obvious risk. But depending on who buys the data, pharmaceutical companies, employers and even government authorities could access your DNA and <a href="https://theconversation.com/four-ways-your-google-searches-and-social-media-affect-your-opportunities-in-life-96809">make decisions</a> based on it.</p>
<p>Democratic governments can’t typically gather DNA evidence without the permission of a judge or via another legal procedure. But in the case of the “<a href="http://www.sciencemag.org/news/2018/10/we-will-find-you-dna-search-used-nab-golden-state-killer-can-home-about-60-white">Golden State Killer</a>”, US law enforcement agencies used DNA data from a public genealogy database to obtain evidence they wouldn’t otherwise have been able to collect. This raises concerns about the willingness of governments to use genetic records originally made to explore people’s ancestry for a very different purpose.</p>
<h2>Giving away family secrets</h2>
<p>The Golden State Killer case is all the more important because it highlights the most fundamental issue with DNA-sharing initiatives. When you share your DNA, you’re also sharing data about your entire family, who haven’t necessarily consented. The Golden State Killer didn’t get a DNA test but one of his relatives did. When enough people share their DNA, the genetic profile of entire communities becomes available.</p>
<p>A <a href="http://www.sciencemag.org/news/2018/10/we-will-find-you-dna-search-used-nab-golden-state-killer-can-home-about-60-white">study of the database</a> that was used to catch the killer estimated that it contained the profiles of 0.5% of the US population, yet this represented family members (third cousin or closer) of 60% of white Americans. With 2% of the population, that figure would increase to 90%.</p>
<p>GMI currently <a href="https://www.genengnews.com/insights/using-powered-cohorts-to-speed-drug-discovery-and-development/">plans to build</a> the world’s largest whole-genome database of some 400,000 participants – roughly a tenth of Ireland’s population – from a presence in all the country’s major hospitals. This would likely give the firm information on almost every family group in Ireland and a huge proportion of the Irish diaspora (<a href="https://www.dfa.ie/media/dfa/alldfawebsitemedia/newspress/publications/ministersbrief-june2017/1--Global-Irish-in-Numbers.pdf">estimated at 70m</a>), enabling it to identify the most private characteristics of a global population.</p>
<p>This shows how, when some people allow their DNA data to be shared, it could expose both them and their families to risk and erode the rights of everyone else, meaning we all have a stake in how genetic records are shared. Organisations must be required to be clearer about who will use the DNA data they collect, and for what to prevent risk of misuse.</p><img src="https://counter.theconversation.com/content/110755/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Roisin Costello receives funding from The Irish Research Council. </span></em></p>When you share your genetic data – even with the NHS – you don’t know where it will end up, or how it will be used.Roisin Costello, PhD Candidate, School of Law, Trinity College DublinLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1102562019-01-29T16:01:40Z2019-01-29T16:01:40ZMorning or night person? It depends on many more genes than we thought<figure><img src="https://images.theconversation.com/files/255841/original/file-20190128-42594-1fz5nod.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/download/confirm/407032261?src=y7dX3VehHVBXOxReWVbyhw-1-4&size=medium_jpg">Undrey/Shutterstock</a></span></figcaption></figure><p>Do you prefer to rise early with the lark or stay up late with the owl? Your preference turns out to be partly decided by your genes. Our <a href="https://www.nature.com/articles/s41467-018-08259-7">genetic study</a> of nearly 700,000 people has revealed new insights about the genetics of chronotype – our preference to rise early or sleep late – and how it influences our mental and physical health.</p>
<p>We all lie somewhere on the chronotype bell-curve, with larks (early sleepers) at one end and owls (late sleepers) at the other. Our chronotype is partly influenced by our environment. Factors include season, latitude and whether we live in an urban area. Men are more likely than women to be owls and we become more lark-like as we age. However, studies have shown that anywhere <a href="https://www.nature.com/articles/srep09214">between a fifth and a half</a> of our chronotype is fixed at birth by our genes. Until as recently as 2016, little was known about what these genetic factors were.</p>
<p>With data on 250,000 people from <a href="https://www.23andme.com/">23andMe</a> and 450,000 people from the <a href="https://www.ukbiobank.ac.uk/">UK Biobank</a>, we analysed their genes against whether they were “morning” or “evening” people. We found 351 genetic <a href="https://www.yourgenome.org/facts/what-is-genetic-variation">variants</a> that contribute to determining a person’s chronotype. Before this study, we knew of only 24.</p>
<p>Research has shown that owls have an increased risk of <a href="https://www.nature.com/articles/ijo2014157">obesity</a>, <a href="https://www.tandfonline.com/doi/full/10.3109/07420528.2010.516705">depression</a> and even <a href="https://www.tandfonline.com/doi/full/10.3109/07420528.2012.741171">type 2 diabetes</a>. Our newly found chronotype variants allowed us to investigate whether sleeping and rising later are directly responsible for this.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/morning-lark-or-night-owl-how-our-body-clocks-affect-our-mental-and-physical-performance-106486">Morning lark or night owl? How our body clocks affect our mental and physical performance</a>
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<h2>How our genes affect our body clock</h2>
<p>Your body clock doesn’t just keep time but also acts as an internal scheduler. It tells your body when to be active, when to be hungry and when to release important hormones. Most importantly, your body clock tells you when to be tired and so when to sleep.</p>
<p>Some genetic variants we identified were in or near genes responsible for the correct functioning of the body clock. This suggests that some differences between larks and owls can be ascribed to slight differences in the clock itself. It may explain previous findings that owls have clocks that <a href="https://www.sciencedirect.com/science/article/pii/0301051185900195">run slower than larks</a>.</p>
<p>Although the body clock can operate without external interference, in humans it tends to run for slightly longer than the 24-hour day. To stay in sync with the day-night cycle, it receives cues from the environment via the body, from sensed levels of temperature and light. These allow the clock to be <a href="https://journals.sagepub.com/doi/abs/10.1177/0748730403018003001">“entrained”</a> (corrected) each day.</p>
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<p>
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<strong>
Read more:
<a href="https://theconversation.com/dim-the-lights-to-restore-natures-body-clock-25923">Dim the lights to restore nature's body clock</a>
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<p>Some of the genetic variants we found were in genes that are important in the retina, part of the eye that converts light focused by the eyeball to signals for communication to the brain. In an experiment investigating the effect of night-time artificial light on humans, researchers showed that the body clocks of owls were <a href="https://www.sciencedirect.com/science/article/pii/S0960982213007641">delayed more than larks</a>. This may suggest that the retinas of owls are less effective at detecting and communicating light levels, resulting in poorer entrainment of the clock.</p>
<p>Many other variants we identified have already been seen in genetic studies of other traits or disorders. These include variants that affect your levels of insulin, your appetite and the rate at which your liver breaks down nicotine – a known stimulant. More work is needed to understand whether these variants act through affecting the body clock or via different behavioural mechanisms.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=410&fit=crop&dpr=1 600w, https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=410&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=410&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=515&fit=crop&dpr=1 754w, https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=515&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/255843/original/file-20190128-108338-eeq5fn.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">
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<span class="caption">Owls suffer more from social jetlag.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/186566120?src=sSk63YN2lc4qQZm8NaUk1Q-1-9&size=medium_jpg">Akos Nagy/Shutterstock</a></span>
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<h2>Sleeping later and your mental health</h2>
<p>Uncovering the genetics of chronotype provides us with tools to investigate the causal impact of rising early or late on someone’s risk of disease, without being plagued by the effects of shared factors such as lifestyle and environment.</p>
<p>We were able to show that being an owl, as opposed to a lark, causes you to have lower levels of well-being and means you are more likely to suffer from schizophrenia and depression over your life. One possible explanation for this is the higher amount of <a href="https://www.tandfonline.com/doi/full/10.1080/07420520500545979">social jetlag</a> suffered by owls. To conform to standard work patterns, owls may be forced to fight against their body clocks more than larks and compensate on free (non-work) days by sleeping later. Fighting your natural clock is believed to make you more prone to disease, though more research is needed to understand why this is the case.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/does-eating-at-night-make-you-fat-96804">Does eating at night make you fat?</a>
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</em>
</p>
<hr>
<p>But it’s not all bad news for the owls. Although previous studies showed a link between owls and a higher risk of type 2 diabetes and obesity, we saw no causal evidence of this, despite having data on close to 700,000 people. Lifestyle factors affecting both your chronotype and your risk of obesity and diabetes probably explains this lack of a causal link. In future studies, we will test this hypothesis and seek stronger evidence for these findings.</p>
<p>In two forthcoming parallel studies, we describe the genetics of habitual sleep duration and insomnia. These studies mark the start of an exciting new wave of research in sleep medicine.</p><img src="https://counter.theconversation.com/content/110256/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Samuel Edward Jones receives funding from the Medical Research Council.</span></em></p>Researchers find 351 genetic variants associated with a person’s chronotype. Before this study, we knew of only 24.Samuel Edward Jones, Research Fellow, University of ExeterLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/970652018-08-02T10:35:23Z2018-08-02T10:35:23ZGenetic testing: Should I get tested for Alzheimer’s risk?<figure><img src="https://images.theconversation.com/files/229858/original/file-20180730-106524-145eb3l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic testing is available to people who want to know if they carry a variant of a gene that confers susceptibility for Alzheimer's. But knowing whether to get tested is hard. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/alzheimers-disease-597657854?src=GJm9-4lY4sWw9oJztGIkqA-1-95">Billion Photos/Shutterstock.com</a></span></figcaption></figure><p>Thanks to advances in genetic testing, there is now a way for consumers to test for the greatest genetic risk factor for late-onset Alzheimer’s disease.</p>
<p>Alzheimer’s disease is a <a href="https://www.alz.org/alzheimer_s_dementia">progressive and fatal neurodegenerative disorder</a> that primarily affects older adults. It is the most <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962992/">common cause of dementia</a>. It is the third leading <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962992/">cause of death</a>, behind heart disease and cancer. An estimated 700,000 Americans 65 and older will have Alzheimer’s when <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962992/">they die</a>. In a recent study asking Americans age 50 or older the condition they were most afraid of, the number one fear was <a href="https://munin.uit.no/bitstream/handle/10037/10794/article.pdf?sequence=3">Alzheimer’s</a>, with 39 percent; followed by cancer, at 30 percent. </p>
<p>Clinically, patients with Alzheimer’s most commonly present with insidiously progressive memory loss, difficulty thinking and understanding and mental confusion. </p>
<p>As a <a href="https://biology.boisestate.edu/faculty-and-staff/faculty/troy-rohn/">scientist</a> who has been involved in Alzheimer’s research for the past 18 years, I think genetic testing represents a significant advance in being able to assess one’s risk for this disease. But people should be aware that there are several things to consider before testing for this treacherous disease at home.</p>
<h2>Why is ApoE important for Alzheimer’s risk?</h2>
<p>The vast majority of Alzheimer’s cases have <a href="https://www.alz.org/alzheimer_s_dementia">late onset</a>, or after age 65, and advancing age is the greatest risk factor. Alzheimer’s affects one in 10 people over the age of 65, and almost two-thirds of Americans with Alzheimer’s are <a href="https://www.alz.org/alzheimers-dementia/facts-figures">women</a>. </p>
<p>In addition to advancing age, there are known genetic risk factors associated with Alzheimer’s, with a gene called <a href="https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/new-culprit-tangles-ApoE4-Alzheimers-disease">ApoE4</a> being the most important of all of them. The ApoE gene provides instructions for making a protein called <a href="https://ghr.nlm.nih.gov/gene/APOE">apolipoprotein E</a>. This protein combines with fats, or lipids, in the brain to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and ferrying them around in the <a href="https://ghr.nlm.nih.gov/gene/APOE">brain</a>. Scientists have long known that ApoE4 is related to a buildup of amyloid in the brain, one of the hallmarks of Alzheimer’s. But a <a href="https://www.ninds.nih.gov/News-Events/News-and-Press-Releases/Press-Releases/new-culprit-tangles-ApoE4-Alzheimers-disease">recent study</a> suggested that ApoE4 also contributes to the buildup of tau, a second protein that has long been implicated in the development of Alzheimer’s. Thus, the question of ApoE4 testing becomes even more urgent for many.</p>
<p>The ApoE gene has three different <a href="https://www.genome.gov/glossary/index.cfm?id=4">alleles</a>, or variations of a gene that can occur by mutation: ApoE2, ApoE3 and ApoE4. These alleles occur at the same location as the gene.</p>
<p>Everyone has two copies of this gene, and the combination of alleles determines your ApoE “<a href="https://www.genome.gov/glossary/index.cfm?id=93">genotype</a>” – E2/E2, E2/E3, E2/E4, E3/E3, E3/E4 or E4/E4. The E2 allele is the rarest form of ApoE, but it’s a good one to have. Carrying even one copy appears to reduce the risk of developing Alzheimer’s by up to 40 percent. </p>
<p>The ApoE3 is the most common allele and doesn’t seem to influence risk. The ApoE4 allele is less common than E3, present in about 10 to 15 percent of people, but it confers a significant risk for AD. Having one copy of E4 (E3/E4) can double or triple your risk, while two copies of (E4/E4) can increase the risk by <a href="https://www.nature.com/articles/475S20a">10-15 times</a>. It is noteworthy that <a href="https://jamanetwork.com/journals/jama/article-abstract/418446">65-80 percent</a> of all Alzheimer’s patients have at least one <a href="https://www.ncbi.nlm.nih.gov/pubmed/8350998">APOE4 allele</a>.</p>
<p>This allele also lowers the <a href="https://jamanetwork.com/journals/jama/article-abstract/418446">age of onset</a>. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=139&fit=crop&dpr=1 600w, https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=139&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=139&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=175&fit=crop&dpr=1 754w, https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=175&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/220188/original/file-20180523-51121-1kl68du.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=175&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Risk of susceptibility, based on alleles.</span>
<span class="attribution"><span class="source">Alzheimers.org</span>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span>
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</figure>
<h2>Testing for ApoE4</h2>
<p>Testing has become incredibly easy and fast through <a href="https://www.23andme.com">23andMe</a>, the personal genetics company that <a href="https://www.fda.gov/newsevents/newsroom/pressannouncements/ucm551185.htm">won approval from the FDA</a> in April 2017 to market genetic testing directly to consumers. In its late-onset Alzheimer’s report, 23andMe provides people with their ApoE gene status, following the mailing of a saliva sample to the company. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=404&fit=crop&dpr=1 600w, https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=404&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=404&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=508&fit=crop&dpr=1 754w, https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=508&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/229861/original/file-20180730-106502-1799k2d.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=508&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">A woman and her doctor discuss healthy aging.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/female-doctor-geriatrician-discusses-healthy-aging-2844675?src=9gYDUMmv13QQDPFAM0MfEw-1-6">Dennis Sabo/Shutterstock.com</a></span>
</figcaption>
</figure>
<p>But a much more difficult question is: Should I be tested? There are important implications of learning one’s ApoE4 genetic status, and consumers should consider these before they decide to be tested. Indeed, most professional medical organizations, including the National Institutes of Health, recommend genetic testing of ApoE4 status only for people volunteering for clinical trials.</p>
<p>Pros of testing may include:</p>
<ul>
<li>It is currently known from prevention research that people with the APOE4 gene can take a number of lifestyle steps to mitigate their risk.</li>
<li>Being able to participate in clinical trials.</li>
<li>APOE4 also has some predictive value for cardiovascular risk.</li>
</ul>
<p>Cons of testing may include:</p>
<ul>
<li>Stress on family. </li>
<li>Emotional distress.</li>
<li>Financial implications in terms of insurance or long-term care options.</li>
<li>Effect on employment.</li>
</ul>
<h2>The effect of knowing your status</h2>
<p>One of the major drawbacks to being tested for the ApoE4 gene is that the test is considered what is called a susceptibility test because it has limited predictive value. Having the E4 allele does not mean that a person will be diagnosed with Alzheimer’s. Many E4 carriers may live long lives without ever developing the disease, and many noncarriers still have risk for Alzheimer’s. This is critically important to understand before having genetic testing for ApoE4. </p>
<p>Several studies have now examined the impact of ApoE4 testing on individuals. The <a href="https://www.nia.nih.gov/alzheimers/clinical-trials/communicating-amyloid-neuroimaging-reveal-scan">NIH REVEAL-SCAN</a> project examined the effect of learning ApoE4 status in those who were not showing any symptoms of dementia but had first-degree relatives affected by Alzheimer’s. The data indicated that knowing one’s ApoE status caused only mild and brief psychological problems in those found to have inherited <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2778270/">E4 alleles</a>. </p>
<p>In a more recent study, adverse psychological reactions were reported by a fraction of the participants, including those who had specifically sought testing. However, nearly all of those interviewed said that they had benefited in the long term from lifestyle changes they <a href="https://www.nature.com/articles/gim201813">subsequently made</a>. </p>
<h2>Consideration of other risk factors</h2>
<p>Harboring the ApoE4 allele is the most important genetic risk factor for late-onset Alzheimer’s, and knowing one’s E4 allele status certainly could be transforming, particularly in terms of preventative, beneficial lifestyle changes individuals may undergo. </p>
<p>However, there are important considerations to take into account before testing to help mitigate stress and anxiety associated with a positive E4 test. Other experts and I suggest that people start by becoming well-informed about the basics of ApoE4. If testing is carried out and a higher risk is revealed, it is critically important those individuals obtain genetic counseling and be actively assisted about how to proceed. </p>
<p>Whether you carry the ApoE4 gene or not, many other risk factors are thought to contribute to Alzheimer’s, not just genes and old age. What you eat, how much you exercise, formal education, smoking, how mentally active you remain and other factors have all been <a href="https://www.sciencedirect.com/science/article/pii/S1552526015001971">implicated</a>. </p>
<p>Ultimately, the choice of whether to get a genetic test remains a personal one – all the more reason it’s important to be informed about the pros and cons of Alzheimer’s screening and what doctors know about your risk for the disease and whether viable treatment options are available.</p><img src="https://counter.theconversation.com/content/97065/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Troy Rohn receives funding from National Institutes of Health (NIH). </span></em></p>Alzheimer’s is not only the third leading cause of death in the U.S. but also the most dreaded diagnosis. Genetic testing can help determine susceptibility, but knowing whether to test isn’t easy.Troy Rohn, Professor of Biology, Boise State UniversityLicensed 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>
<figcaption>
<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>
</figcaption>
</figure>
<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>
<figcaption>
<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>
</figcaption>
</figure>
<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>
<figcaption>
<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>
</figcaption>
</figure>
<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>
<figcaption>
<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>
</figcaption>
</figure>
<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>
<figcaption>
<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>
</figcaption>
</figure>
<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.tag:theconversation.com,2011:article/950192018-05-03T10:42:19Z2018-05-03T10:42:19ZAs genetic testing for breast cancer gene mutation expands, questions arise about treatment decisions<figure><img src="https://images.theconversation.com/files/217111/original/file-20180501-135851-131ygjc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic testing for breast cancer gene mutations is now available. But it could lead to over treatment. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/close-up-topless-woman-body-covering-128042738?src=SgaKjKEPPirLUFVQZJqpqg-1-68">Fotos593/Shutterstock.com</a></span></figcaption></figure><p>The Food and Drug Administration recently <a href="https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm599560.htm">announced</a> its authorization that permits genetics testing company <a href="https://mediacenter.23andme.com/press-releases/23andme-granted-first-fda-authorization-direct-consumer-genetic-test-cancer-risk/">23andMe</a> to market a test for gene mutations associated with <a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet">risk of breast and ovarian cancer</a>. </p>
<p>In response, 23andMe CEO Anne Wojcicki asserted that the test represents a “<a href="https://blog.23andme.com/health-traits/major-milestone-consumer-health-empowerment/">major milestone</a> in consumer health empowerment.” </p>
<p><a href="https://nyti.ms/2G2rAqQ">Media</a> articles following this announcement made it clear even if the test provides an accurate result, there are significant limitations for 23andMe’s version of the test about which consumers should be aware. Notably, 23andMe discloses that the test only provides information on three genetic variants found on the BRCA1 and BRCA2 genes known to be associated with a higher risk for breast, ovarian and prostate cancer in people of Ashkenazi Jewish descent. </p>
<p>According to the FDA, most mutations that would increase an individual’s risk are <a href="https://customercare.23andme.com/hc/en-us/articles/236409067-Conditions-NOT-included-in-23andMe">not detected</a> by the test, including mutations that may occur in other patient populations.</p>
<p>As a health law professor and bioethicist, here are some things I think that patients should know about genetic tests and how to think about risk. </p>
<h2>A bit about assessing risk</h2>
<p>Research shows that women <a href="https://www.ncbi.nlm.nih.gov/pubmed/19263514">overestimate their risk</a> of cancer and <a href="https://www.ncbi.nlm.nih.gov/pubmed/24965368">overestimate</a> the potential of dying of cancer. This anxiety may prompt women to seek <a href="https://www.ncbi.nlm.nih.gov/pubmed/23896967">aggressive interventions</a> even when they do not have cancer. In <a href="https://www.ncbi.nlm.nih.gov/pubmed/21642681">one study</a>, 32.9 percent of women without a BRCA mutation who received a false positive (indicated they had cancer when in fact they did not) on a screening test for ovarian cancer and had no ovarian cancer opted for surgical removal of their ovaries, or an oophorectomy. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=401&fit=crop&dpr=1 600w, https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=401&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=401&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=504&fit=crop&dpr=1 754w, https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=504&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/217114/original/file-20180501-135844-1f3ihd7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=504&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">Some women have opted to have limited or complete mastectomies based on genetic testing. Here, a minimal mastectomy is shown.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/breast-cancer-surgery-scars-by-partial-413299192?src=U-I2rsgKqt_xkMoF1wNAYg-1-0">Pradit.Ph</a></span>
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</figure>
<p>It is imperative to address this anxiety and situate what a cancer risk means for patients. </p>
<p>For starters, it is important to know that the chance of having a <a href="https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815">BRCA mutation</a> is exceedingly rare, with only about 0.2 percent of population affected. Put another way, in a room of 500 women, only 1 would have a BRCA mutation that increases her baseline risk of breast and ovarian cancer. But even this woman with a BRCA mutation may never develop breast or ovarian cancer during her lifetime. In fact, <a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics">90 to 95</a> percent of most cancer diagnoses can be attributed to environmental and lifestyle factors, not an inherited faulty gene. </p>
<p>According to the Fred Hutchinson Cancer Research Center, up to <a href="https://www.fredhutch.org/en/events/healthy-living/Trim-Risk.html">one-third</a> of cancer-related deaths are due to obesity and sedentary lifestyle. “Exercise is one of the most important actions you can take to help guard against many types of cancer,” experts at Fred Hutchinson say. A trial published in JAMA Internal Medicine confirmed the strength of <a href="https://www.ncbi.nlm.nih.gov/pubmed/26365989">dietary modification</a> to drastically reduce risk of breast cancer. This information should be <a href="https://jamanetwork.com/journals/jamaoncology/fullarticle/2524829">empowering</a>. Many patients have much more control over certain – but not all – risks than they may have thought. </p>
<p>These discussions raise broader questions about how we treat patients regardless of whether they have an increased risk of cancer based on genetic testing or fall into a high risk category based on family history. For patients to make meaningful health decisions, they must have accurate information that includes understanding the risks and benefits of each choice. </p>
<h2>Implications for overtreatment</h2>
<p><a href="https://www.amazon.com/Overdiagnosed-Making-People-Pursuit-Health/dp/0807021997">Overtreatment that stems from anxiety</a> not only leads to unnecessary and potentially harmful interventions for the patient, but it implicates <a href="https://law.justia.com/cases/wisconsin/supreme-court/1999/17289.html">physician liability</a>. Traditionally, oncologists may favor an <a href="https://www.ncbi.nlm.nih.gov/pubmed/26789721">aggressive approach</a>, offering and recommending interventions as a means to avoid <a href="http://time.com/4057310/breast-cancer-overtreatment/">malpractice litigation</a> arising from patient perception that a physician could have intervened sooner. Aggressive treatment prompted by a patient’s anxiety requires further scrutiny specifically because each preventive intervention entails serious risks. </p>
<p>To note, 23andMe does caution that its test results should not be used on their own to make medical decisions. Women who test either positive or negative should still follow up with their physicians, both 23andMe and the FDA say.</p>
<p>If a woman has a BRCA mutation that increases her risk of cancer, the physician would likely recommend a <a href="https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet#q7">risk-reducing measure</a> recommended by the National Cancer Institute: <a href="https://www.cancer.gov/types/breast/breast-hormone-therapy-fact-sheet">chemoprevention</a>, <a href="https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet">preventive mastectomy</a> with <a href="https://www.cancer.gov/types/breast/reconstruction-fact-sheet">reconstruction</a>, and surgical removal of ovaries and fallopian tubes, called <a href="https://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet">salpingo-oophorectomy</a>.</p>
<p>In the majority of cases, women who undergo <a href="https://www.ncbi.nlm.nih.gov/pubmed/21069671">mastectomy</a> also opt for <a href="http://www.center4research.org/breast-implants-research-regulatory-summary/">implant reconstruction</a>, and women who undergo salpingo-oophorectomy begin taking synthetic <a href="http://www.nytimes.com/2010/10/20/health/20hormone.html">hormone replacement therapy</a>.</p>
<p>In <a href="https://www.researchgate.net/publication/316464512_The_Impact_of_a_Developing_Regulatory_Framework_Governing_LDTs_in_Precision_Oncology_Re-envisioning_the_Clinical_Risk_Assessment_Paradigm">my research</a>, I’ve read countless clinical practice guidelines, FDA meeting minutes, congressional hearing transcripts, and case law. </p>
<p>Here’s what I’ve learned: The potential for cancer risk reduction is only the first part of the equation. Yes, these interventions recommended by the National Cancer Institute do reduce risk for breast and ovarian cancer. But they also increase risk of other potentially debilitating or deadly conditions. </p>
<p>Many <a href="http://ascopubs.org/doi/abs/10.1200/jco.2013.49.3122">physicians agree</a> the trade-off of reducing risk of cancer is worth it. But some physicians and patients may not be aware that physicians and clinical practice guidelines may downplay, omit or dismiss risks entirely in a manner that does not necessarily correspond to scientific evidence, but may be informed by financial <a href="https://www.ncbi.nlm.nih.gov/books/NBK22942/">conflicts of interest.</a></p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=401&fit=crop&dpr=1 600w, https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=401&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=401&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=504&fit=crop&dpr=1 754w, https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=504&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/217116/original/file-20180501-135848-uowflf.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=504&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Women with concerns about their risks of breast cancer based on positive results from genetic testing should talk with their doctors.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/breast-surgery-consultant-meeting-female-patient-536023042?src=U-I2rsgKqt_xkMoF1wNAYg-1-33">Monkey Business Images/Shutterstock.com</a></span>
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<p>Health empowerment requires a much broader conversation of what patients – both with and without a BRCA mutation – can do about their risk of cancer. On a population level, I believe everyone should have information on how to reduce cancer risk through diet and lifestyle interventions. Let’s continue the conversation of how to address patient anxiety to prevent needless overtreatment, aim for communication that accurately portrays what risks mean, and determine whether recommended interventions that pose significant risks offer sufficient clinical benefits.</p><img src="https://counter.theconversation.com/content/95019/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Katherine Drabiak 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>A genetics testing company recently won approval from the FDA to market a test that can identify a breast cancer gene mutation. But what are women supposed to do with that information? There’s risk involved.Katherine Drabiak, Assistant Professor of Bioethics and Genomics, University of South FloridaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/207442013-11-26T16:42:42Z2013-11-26T16:42:42ZIt is game over for 23andMe, and rightly so<figure><img src="https://images.theconversation.com/files/36187/original/jw767d86-1385476072.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA peddling needs to be banned.</span> <span class="attribution"><span class="source">home_of_chaos</span></span></figcaption></figure><p>The market for personal genome services is facing a reality check. While the most prominent and innovative company 23andMe has flourished so far, in the past few years many of its competitors have gone out of business. Now, with the latest warning from the US Food and Drug Administration (FDA), the rest of the genome testing industry may be counting its days too. 23andMe has failed to provide scientific evidence for their genetic tests and the FDA has urged them in a public <a href="http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm">letter</a> to halt the marketing of their services until further notice.</p>
<p>The FDA treats genetic testing as a “medical device”, and it wants all such devices to meet high quality standards. In this the FDA is right. 23andMe provides information that may lead its users to self-medicate, which, if based on faulty information can lead to serious adverse effects. The FDA does not mind if people would like to know what their DNA sequence is, but it is concerned about the interpretation of that data by 23andMe.</p>
<p>The FDA’s letter is unlikely to have surprised the people at 23andMe. They acknowledge similar concerns in their Terms of Service. They are also aware of the limited predictive ability of their tests for common diseases. 23andMe follows scientific progress in genetic risk prediction research closely, and by now they must have realised that the promise of personal genome services has faded.</p>
<p>In 2009, when the company first filed for marketing authorisation of their service, the future of genetic prediction looked very bright. The discovery of genetic markers for common diseases had just started to take off. Each issue of <a href="http://www.nature.com/ng/index.html">Nature Genetics</a>, the top journal for scientific discoveries in genetics and genomics, reported new markers for different diseases. It seemed global collaborations would soon rapidly unravel the genetic origins of disease.</p>
<p>But the reality appeared more complex.</p>
<p>Genomics researchers caught the bigger fish first, as new markers had increasingly smaller effects on disease risk. By now, only four years later, <a href="http://www.ncbi.nlm.nih.gov/pubmed/23071215">many</a> scientific <a href="http://www.ncbi.nlm.nih.gov/pubmed/22490517">studies</a> have investigated the predictive ability of risk models similar to those on which 23andMe’s tests are based. Their results have been mostly <a href="http://www.ncbi.nlm.nih.gov/pubmed/23599444">discouraging</a>, even though researchers have never used that word. Genetic markers are generally unable to predict risk of common diseases, and adding more markers to risk models does not improve their predictive ability that much.</p>
<p>The results of these studies are no surprise: most of them have investigated risk predictions that are based on relatively few genetic markers. For instance, 23andMe uses only 15 markers to predict the risk of coronary heart disease, 11 for type-2 diabetes, two for melanoma and obesity, and one for esophageal and stomach cancer. These numbers are much lower than the dozens that have already been discovered. Predictive ability can be good only if markers have a lot of impact on disease risk, such as in age-related macular degeneration and several autoimmune diseases.</p>
<p>Champions of the genetic medicine revolution could have been warned by looking at the degree of “heritability” of diseases. The lower this percentage, the <a href="http://www.investigativegenetics.com/content/1/1/10">less predictive</a> the test can become. 23andMe discloses these estimates: </p>
<blockquote>
<p>Heritability of melanoma is estimated at around 20%; type-2 diabetes at 26%; colorectal, esophageal and stomach cancer all around 30%; coronary heart disease between 39% and 56%; and type-1 diabetes between 72% and 88%.</p>
</blockquote>
<p>But what does this mean? The high heritability of type-1 diabetes means that genes play a dominant role in causing the disease. If scientists manage to unravel all genetic markers for type-1 diabetes, a genetic test will be able to predict with high accuracy if a person will get diabetes. </p>
<p>Unfortunately, due to all the complex interactions between the markers, this full unravelling is impossible. The number of interactions is probably so high that every patient will have his or her <a href="http://hmg.oxfordjournals.org/content/17/R2/R166.long">own unique complex cause of disease</a>. And what has never happened cannot be identified or predicted by big data.</p>
<p>Advances in genome science will improve what tests offer, but these improvements will be small. While the hope is based on <a href="https://theconversation.com/topics/big-data">big data</a>, the reality is that most diseases are simply not genetic enough. Other risk factors such as diet, body weight, smoking, exercise and stress are too important. And big data cannot change the biology of diseases – it will not make them more genetic. </p>
<p>That is why genetic testing for common diseases will never become as predictive as champions of genetic testing hope. </p><img src="https://counter.theconversation.com/content/20744/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>A Cecile JW Janssens 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>The market for personal genome services is facing a reality check. While the most prominent and innovative company 23andMe has flourished so far, in the past few years many of its competitors have gone…A Cecile JW Janssens, Research Professor of Epidemiology, Emory UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/207432013-11-25T22:23:18Z2013-11-25T22:23:18ZStopping 23andMe will only delay the revolution medicine needs<figure><img src="https://images.theconversation.com/files/36072/original/mr853gq7-1385415686.jpg?ixlib=rb-1.1.0&rect=0%2C380%2C2048%2C1453&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Welcome to nowhere, says FDA.</span> <span class="attribution"><span class="source">widdowquinn</span></span></figcaption></figure><p>Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. <a href="http://www.genomesunzipped.org/2012/02/guest-post-time-to-bring-human-genome-sequencing-into-the-clinic.php">The disease</a>, called Ogden Syndrome, caused the death of a four-month old child named Max. But the rules and regulations for genetic testing in the US, laid down in the <a href="http://www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/index.html?redirect=/clia/">CLIA</a> (Clinical Laboratory Improvement Amendments), meant I could not share the results of the family’s genetic tests with them. </p>
<p>Since that time, I have <a href="http://www.nature.com/nature/journal/v482/n7385/full/482300a.html">advocated</a> performing all genetic testing involving humans such that results can be returned to research participants. This I believe should extend beyond research, and some private companies, like 23andMe, are helping to do just that. </p>
<p>For as little as US$99, people around the world can send a sample of their saliva to 23andMe to get their DNA sequenced. Their Personal Genome Service (PGS) analyses parts of a person’s genome. This data is then compared with related scientific data and 23andMe’s own database of hundreds of thousands of individuals to spot genetic markers, which the company claims “reports on 240 health condition and traits”.</p>
<p>Today, however, as <a href="http://www.utahresearch.org/2012/07/31/genetic-testing-for-consumers">I had feared</a>, the US Food and Drug Administration (FDA) has ordered 23andMe to stop marketing their service. In a <a href="http://www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm">warning letter</a>, FDA said: “23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorisation for the device.” By calling PGS “a device”, the FDA fears that people may self-medicate based on results they receive from 23andMe.</p>
<p>Somehow the US and UK governments find it acceptable to <a href="https://theconversation.com/topics/nsa-leaks">store massive amounts of data</a> about their own citizens and that of the <a href="http://www.theguardian.com/commentisfree/2013/oct/25/europe-erupts-nsa-spying-chief-government">rest of the world</a>. They are happy spending billions on such mass surveillance. But if the same people want to spend their own money to advance genomic medicine and possibly improve their own health in the process, they want to stop them.</p>
<p>There are many diseases that appear to occur in the presence of genetic mutations, with large effect in certain populations. A case in point is that of deltaF508 mutation in the CFTR gene, which is known to predispose people to cystic fibrosis, which causes scarring inside organs. </p>
<p>The expression of cystic fibrosis in each of these people is <a href="http://repository.cshl.edu/28355/">highly variable</a>, but the presence of the mutations can certainly raise suspicion for this illness in individuals with any such symptoms. This is particularly the case when there is an already known instance of cystic fibrosis in the immediate family. </p>
<p>This is why carrier screening in families with diagnosed cases of such diseases is advocated. And yet, such screening is <a href="http://www.ncbi.nlm.nih.gov/pubmed/23348769">not commonly performed</a>, even though it could decrease prevalence of affected infants. </p>
<p>Genetic data (or genotype) on its own is of little use. It is the correlation of how those genes manifest in people, which is their phenotype, that makes genotypes useful. </p>
<p>I dream of a world in which we have phenotype and genotype data on millions of individuals, so that we can really begin to better <a href="http://genomemedicine.com/content/4/7/58">understand genotype-phenotype relationships</a>. </p>
<p>Instead, we still live in the medical world described in the Pulitzer prize-winning novel <a href="http://www.litlovers.com/book-reviews/28-great-works/1304-arrowsmith">Arrowsmith</a> pubished in 1925, where doctors pretend to know far more than they actually do. The sad fact is that there is no way the FDA can evaluate and regulate each and every genetic variant in the billions of letters which make up the human genome that get variably expressed in trillions of cells in every human body. </p>
<p>We need to collect billions of data points for analysis by computers. The only company in major contention to do this soon is 23andMe. With FDA’s latest attempt to stop 23andMe, all it is really doing is delaying, or worse stopping, the revolution that today’s medicine desperately needs.</p><img src="https://counter.theconversation.com/content/20743/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Gholson Lyon 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 is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month…Gholson Lyon, Assistant Professor in Human Genetics, Cold Spring Harbor LaboratoryLicensed as Creative Commons – attribution, no derivatives.