tag:theconversation.com,2011:/us/topics/genetic-databases-46050/articlesGenetic databases – The Conversation2022-05-26T12:26:46Ztag:theconversation.com,2011:article/1814132022-05-26T12:26:46Z2022-05-26T12:26:46ZGenetic mutations can be benign or cancerous – a new method to differentiate between them could lead to better treatments<figure><img src="https://images.theconversation.com/files/465132/original/file-20220524-16-83n532.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C2226%2C1346&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Identifying the difference between normal genetic variation and disease-causing mutations can sometimes be difficult.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/gene-study-in-a-dna-chain-mutations-and-genetic-royalty-free-image/1393593249">Andrii Yalanskyi/iStock via Getty Images Plus</a></span></figcaption></figure><p>Most of the <a href="https://doi.org/10.3109/03014460.2013.807878">roughly 40 trillion cells</a> of your body have nearly identical copies of your genome – the DNA inherited from your parents, containing instructions for everything from converting food to energy to fighting off infections. Healthy cells become cancerous through <a href="https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetics-cancer">harmful mutations</a> in the genome. If a cell’s genome is damaged by ultraviolet light, for example, it can result in mutations that tell the cell to grow uncontrollably and form a tumor. </p>
<p>Identifying the genetic changes that cause healthy cells to become malignant can <a href="https://doi.org/10.1038/nature23306">help doctors select therapies</a> that specifically target the tumor. For example, <a href="https://doi.org/10.1097%2Fgco.0b013e3283414e87">about 25%</a> of breast cancers are <a href="https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-her2-status.html">HER2-positive</a>, meaning the cells in this type of tumor have mutations that cause them to produce more of a protein called HER2 that helps them grow. Treatments that <a href="https://doi.org/10.1016/S0140-6736(16)32417-5">specifically target</a> HER2 have dramatically increased survival rates for this type of breast cancer. </p>
<p>Scientists can now readily read cell DNA to identify mutations. The challenge is that the human genome is massive, and mutations are a normal part of evolution. The human genome is <a href="https://doi.org/10.1126%2Fscience.abj6987">long enough to fill a 1.2 million-page book</a>, and any two people can have about <a href="https://www.ashg.org/wp-content/uploads/2019/09/genetic-variation-essay.pdf">3 million genetic differences</a>. Finding one cancer-driving mutation in a tumor is like finding a needle in a stack of needles.</p>
<p>I am a <a href="https://scholar.google.com/citations?user=AXnmFTIAAAAJ&hl=en">computer scientist</a> who explores large and complex genetic data sets to answer fundamental questions about biology and disease. My research team and I <a href="https://doi.org/10.1038/s41592-022-01423-4">recently published a study</a> using DNA from thousands of healthy people to help identify disease-causing mutations by using the principle of natural selection.</p>
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<figcaption><span class="caption">While genetic mutations are an everyday part of life, some can lead to cancer.</span></figcaption>
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<h2>Using big data to find cancerous mutations</h2>
<p>When determining what type of cancer mutation a patient has, the gold standard is to compare <a href="https://doi.org/10.1038/nrg3539">two samples from the patient</a>: one from the tumor and one from healthy tissue (typically blood). Since both samples came from the same person, most of their DNA is identical; focusing only the genetic regions that differ from each other drastically narrows the location of a possible cancer-causing mutation.</p>
<p>The problem is that healthy tissue isn’t always collected from patients, for reasons ranging from clinical costs to narrow research protocols.</p>
<p>One way to get around this is to look at massive public DNA databases. Since cancer-driving mutations are detrimental to survival, natural selection tends to eliminate them over time in successive generations. Of all the mutations in a tumor, the ones that occur less frequently in a given population are more likely to be harmful than changes that are shared by many people. By <a href="https://doi.org/10.1038/nature19057">counting how often a mutation occurs</a> in these databases, researchers can distinguish between genetic changes that are common and likely benign and those that are rare and potentially cancerous. </p>
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<a href="https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Schematic of a cancer mutation in a cell that leads to proliferation and further genetic mutations spurring uncontrollable cell division" src="https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=1765&fit=crop&dpr=1 600w, https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=1765&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=1765&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=2219&fit=crop&dpr=1 754w, https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=2219&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/465144/original/file-20220524-21-fn1wjc.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=2219&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">One cancer-driving mutation can lead to a cascade of other mutations that lead to uncontrollable cell division.</span>
<span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:Cancer_requires_multiple_mutations_from_NIHen.png">National Cancer Institute/Wikimedia Commons</a></span>
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<p>Given the power of this approach, there has been a recent surge of projects to collect and share the DNA sequences from hundreds to thousands of individuals. These projects include <a href="https://www.internationalgenome.org/">the 1000 Genomes Project</a>, <a href="https://www.simonsfoundation.org/simons-genome-diversity-project/">Simons Genome Diversity Project</a>, <a href="http://gnomad.broadinstitute.org/">GnomAD</a> and <a href="https://allofus.nih.gov/">All of Us</a>. There will likely be many more in the future.</p>
<p>Estimating how likely a mutation causes disease by how frequently it appears in a genome is common for small genetic changes called <a href="https://www.garvan.org.au/research/kinghorn-centre-for-clinical-genomics/learn-about-genomics/for-gp/genetics-refresher-1/types-of-variants">single-nucleotide variants (SNVs)</a>. SNVs affect just one position in the <a href="https://medlineplus.gov/genetics/understanding/basics/dna/">3 billion neuclotide</a> human genome. It could, for example, switch one thymine T to a cytosine C.</p>
<p>Most researchers and clinical pathologists use a catalog of variants that have been detected across thousands of samples. If an SNV identified in a tumor is not listed in the catalog, we can assume that it’s rare and possibly drives cancer. This works well for SNVs because detection of these mutations is usually accurate, with few false negatives.</p>
<p>However, this process breaks down for genetic changes across longer strands of DNA called <a href="https://www.ncbi.nlm.nih.gov/dbvar/content/overview/">structural variants (SVs)</a>. SVs are more complex because they include the addition, removal, inversion or duplication of sequences. Compared to much simpler SNVs, SVs have <a href="https://doi.org/10.1002/bies.201100075">higher error rates in detection</a>. False negatives are relatively frequent, resulting in incomplete catalogs that make comparing mutations against them difficult. Finding a tumor SV that isn’t listed in a catalog could mean that it’s rare and a cancer-driving candidate, or that it was missed when the catalog was created.</p>
<h2>Focusing on verification</h2>
<p>My colleagues and I solved these problems by moving from a process focused on detection to one that focuses on verification. Detection is difficult – it requires processing complex data to determine if there is enough evidence to support the existence of a mutation. On the other hand, verification limits decision-making just to whether or not the evidence at hand supports the existence of a specific event. Instead of looking for a needle in a stack of needles, we are now simply considering whether the needle we have is the one we want.</p>
<p><a href="https://doi.org/10.1038/s41592-022-01423-4">Our method</a> leverages this strategy by searching through raw data from thousands of DNA samples for any evidence supporting specific SV. In addition to the efficiency benefits of only looking at the data flanking the target variant, if there is no such evidence, we can confidently conclude that the target variant is rare and potentially disease-causing.</p>
<p>Using our method, we scanned the SVs identified in prior cancer studies and found that thousands of SVs previously associated with cancers also appear in normal healthy samples. This indicates that these variants are more likely to be benign, inherited sequences rather than disease-causing ones.</p>
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<figcaption><span class="caption">All of Us is a research program from the National Institutes of Health with the aim of making medicine more tailored to individual needs.</span></figcaption>
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<p>Most importantly, our method performed just as well as the traditional strategy that requires both tumor and healthy samples, opening the door to reducing the cost and increasing the accessibility of high-quality cancer mutation analysis.</p>
<p>My team and I are exploring expanding our searches to include large collections of tumors from different types of cancers such as breast and lung. Determining which organ a tumor originated from is critical to prognosis and treatment because it can indicate whether the cancer has metastasized or not. Because most tumors have specific mutational signatures, recovering evidence of an SV within a specific tumor sample could help identify the patient’s tumor type and lead to faster treatment.</p><img src="https://counter.theconversation.com/content/181413/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ryan Layer 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>Tumors contain thousands of genetic changes, but only a few are actually cancer-causing. A quicker way to identify these driver mutations could lead to more targeted cancer treatments.Ryan Layer, Assistant Professor of Computer Science, University of Colorado BoulderLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1485822020-11-22T09:13:02Z2020-11-22T09:13:02ZHow South Africans can use their DNA to be good genomic citizens<figure><img src="https://images.theconversation.com/files/366407/original/file-20201029-19-1qhonhh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Direct-to-consumer genetic testing can help scientific researchers.</span> <span class="attribution"><span class="source">Andrey_Popov/Shutterstock</span></span></figcaption></figure><p>In the past few years, people have become fascinated with using their DNA to learn more about themselves, their origins, family trees, predisposition to health conditions and quirky traits. This has been enabled by the rise in popularity and the relative affordability of direct-to-consumer ancestry testing in places like the US. This testing allows people to swab their mouths to collect cells containing DNA, which are then sent off to companies for testing and analysis.</p>
<p>Today sites like AncestryDNA, 23andMe, MyHeritage and FTDNA dominate the European and US markets. But until recently, this service has been inaccessible to most South Africans. That’s because testing using overseas companies can be expensive, and there are logistical hurdles to shipping sample collection kits into and out of South Africa.</p>
<p>Recently, local companies like <a href="https://dnalysis.co.za/">DNAnalysis</a> and <a href="https://www.behappytobeyou.co.za/">Be Happy To Be You</a> have started to offer genetic testing, ranging from ancestry to nutrigenetics (what your genes say you should and should not eat) and health screenings.</p>
<p>Many potential clients are, however, sceptical about using these services. They view them as sub-standard and more expensive than some of the larger, overseas competitors. There are also concerns regarding privacy.</p>
<p>So, is supporting local businesses – and getting your DNA analysed – worth it? My opinion, as a human population geneticist who <a href="https://link.springer.com/article/10.1007/s00438-020-01684-8">has researched</a> the role that extensive genetic testing can play in mapping diseases, is “yes”. As more clients choose a local service provider for direct-to-consumer testing, the accuracy of the service will increase, the costs will decrease and the resulting data generation can be used to boost medical research efforts.</p>
<h2>Addressing concerns</h2>
<p>The process of completing a direct-to-consumer ancestry test is fairly simple. When you visit a site and request a test, you will be required to sign a consent form, fill in your personal information (contact details and address) and then wait for your test kit to be couriered to you. This kit is used to swab the inside of your mouth. The swabs are then sent back to the company for further processing, which involves extraction of your DNA and then computational analysis. An ancestry report is generated by comparing your genetic data to data of other worldwide populations.</p>
<p>But what of people’s concerns around accuracy, cost and privacy?</p>
<p>Firstly, there is no evidence that the services offered by local companies are sub-par. In fact, they should be more accurate because of the context in which the data is analysed. Local companies will have databases of South African data that other overseas companies do not. For example, instead of containing two different southern African populations (in line with overseas companies), local companies might have 10 and therefore be able to provide more detailed, granular reports.</p>
<p>Furthermore, scientists who work in local companies have acquired local knowledge and are therefore able to work with South Africa’s unique genetic diversity better than anyone else.</p>
<p>Secondly, testing in South Africa is for the most part not more expensive than overseas. If South Africans use an overseas company, they’ll generally have to pay for courier fees to get a sample collection kit delivered and sent back to the company as well as potentially paying import taxes. There’s also a risk that the sample collection kit might get held up or even lost in either direction of the courier process. This may add to the overall cost. </p>
<p>Typically the price for direct-to-consumer ancestry testing in the US is between $69 and $99. Adding approximately R800 (around $50) for courier charges brings the cost for an international test to between R1,900 and R2,400, compared to between R1,000 and R2,499 locally (courier fees included). And, as more and more people start using local resources, the products and services will become cheaper over time.</p>
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Read more:
<a href="https://theconversation.com/what-weve-learnt-from-building-africas-biggest-genome-library-126293">What we've learnt from building Africa's biggest genome library</a>
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<p>With regard to data privacy, confidentiality and anonymity, South Africa has some of the strictest laws that govern personal data, particularly the <a href="https://www.gov.za/documents/protection-personal-information-act?gclid=CjwKCAjw0On8BRAgEiwAincsHOOlBCOVBQmw8rQLAoK0h-YyOTbs_Zlytr-Qe3CouEWwnaAKXFN5LxoCrScQAvD_BwE">Protection of Personal Information Act</a>. All local companies are required to adhere to this.</p>
<p>There is another aspect South Africans should consider when they’re thinking about using local services for genomic testing: the importance of creating a genomic citizenship movement.</p>
<h2>Benefits for all</h2>
<p>When you send your DNA to a direct-to-consumer genetic testing company, you are investing in a product and service that benefits others. By making your de-identified genetic data available for use in local companies’ databases and for research purposes, you directly contribute to scientific development by increasing the accuracy of these services for other clients and in some cases, for yourself and for your family members. </p>
<p>Scientific researchers can use that de-identified data to investigate, for instance, why some individuals get sick and others don’t. An example of this has been seen during the COVID-19 pandemic. Genetic data from direct-to-consumer genetic testing has been used <a href="https://www.medrxiv.org/content/10.1101/2020.09.04.20188318v1">to investigate how the disease progresses</a> and why some patients are asymptomatic while others succumb to the disease. This was made possible by individuals who allowed researchers to use their genetic data for this purpose.</p>
<p>Over time, with an expansion of genetic data, it will be possible to diagnose patients with genetic diseases that would not have been diagnosed otherwise. Scientists will be able to answer questions regarding the efficacy of medications in some patients and speed up the development of gene therapies that could save countless lives.</p>
<p>The rise of direct-to-consumer services is an opportunity for South Africans to contribute, in their own way, to a greater genomic future.</p><img src="https://counter.theconversation.com/content/148582/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Caitlin Uren consults for private individuals as well as for Artisan Biomed, the company that owns Be Happy To Be You. </span></em></p>Scientists who work in local companies have acquired local knowledge and are therefore able to work with South Africa’s unique genetic diversity better than anyone else.Caitlin Uren, Postdoctoral research fellow, Stellenbosch UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1478052020-10-15T12:38:23Z2020-10-15T12:38:23ZWhat is HIPAA? 5 questions answered about the medical privacy law that protects Trump’s test results and yours<figure><img src="https://images.theconversation.com/files/363533/original/file-20201014-21-q2f1h4.jpg?ixlib=rb-1.1.0&rect=473%2C0%2C6875%2C4912&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Doctors can share your medical information, with your permission.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/bad-news-royalty-free-image/486418295">sturti/E+ via Getty Images</a></span></figcaption></figure><p><em>When President Trump was hospitalized with COVID-19, his doctor pointed to “<a href="https://www.cnn.com/2020/10/07/politics/hipaa-trump-conley/index.html">HIPAA rules and regulations</a>” as the reason he couldn’t speak more freely about Trump’s condition. HIPAA is a medical privacy law, but people often misunderstand what it does and doesn’t do.</em></p>
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<p><em>Margaret Riley is a <a href="https://www.law.virginia.edu/faculty/profile/mf9c/1202931">law professor at the University of Virginia</a> who specializes in health law. She spends a lot of time teaching future lawyers and medical professionals how medical privacy laws work. Here are the basics.</em></p>
<h2>1. What is HIPAA and why did Congress pass it?</h2>
<p>The <a href="https://www.hhs.gov/hipaa/for-professionals/privacy/laws-regulations/index.html">Health Insurance Portability and Accountability Act’s</a> Privacy Rule is a federal law that <a href="https://www.hipaajournal.com/when-was-hipaa-enacted/">went into force in 2003</a>. The need for such a law had been underscored when tennis star <a href="https://www.nytimes.com/1992/04/09/sports/an-emotional-ashe-says-that-he-has-aids.html">Arthur Ashe’s HIV status was revealed publicly</a> and country music star <a href="http://www.cmt.com/news/1475729/medical-worker-sentenced-over-wynette-medical-records/">Tammy Wynette’s health records were sold</a> to tabloids for a few thousand dollars. People were also starting to worry about genetic privacy. And Congress recognized that the internet would make it easier for health care privacy breaches to occur.</p>
<p>The law prohibits health care providers and businesses and people working with them – including administrative staff, laboratories, pharmacies, health insurers and so on – from disclosing your health information without your permission. That includes information about your COVID-19 symptoms and test results – though there are some exceptions.</p>
<h2>2. Is all my medical info protected by HIPAA?</h2>
<p>No, HIPAA protects only health care information that is held by specific kinds of health care providers. For example, health care data that may be on your Apple Watch or Fitbit are usually not covered by HIPAA. Similarly, genetic data you enter on websites like Ancestry.com are not covered by HIPAA.</p>
<p>Even some apps that do things like help you maintain your blood sugar may not be covered by HIPAA if you aren’t using them at the direction of your health care provider. Other laws or agreements like the privacy disclosures required on many apps (although <a href="https://theconversation.com/nobody-reads-privacy-policies-heres-how-to-fix-that-81932">many people don’t read them</a>) may protect that information, but HIPAA does not.</p>
<p>Employers are generally not covered health providers, so HIPAA does not apply to them. If necessary to protect others, your work could share that you have an illness. That said, other laws like the Americans with Disabilities Act may prevent your employer from disclosing identifiable health information about you that you may have shared with them.</p>
<h2>3. Who can disclose what under HIPAA?</h2>
<p>HIPAA gives you the right to control your health information disclosures so you can tell your health care provider what to share. </p>
<p>For example, you may be willing to have your health care provider share some of your health information with family members, but you might not want to share all of it; you can tell your health care provider not to share any stigmatizing information or procedures that your family might not know about. You need to be very clear with your health care provider if you want to exclude some information. Some information, like psychotherapy notes or giving your data to marketing companies, requires written authorization. </p>
<p>Sometimes people try to use HIPAA as an excuse for actions that it doesn’t in fact cover. In 2020, for instance, some people confronted with rules about wearing masks in stores assert that they don’t need to wear one and <a href="https://www.usatoday.com/story/news/factcheck/2020/07/19/fact-check-asking-face-masks-wont-violate-hipaa-4th-amendment/5430339002/">don’t need to explain why because of HIPAA</a>. That’s not actually how this privacy law works.</p>
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<a href="https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="exterior of a medical center with mask sign" src="https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/363537/original/file-20201014-21-1mxfqp8.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">Even during the pandemic, your personal medical information is largely protected.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/bad-news-royalty-free-image/486418295">Spencer Plat/Getty Images News via Getty Images</a></span>
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<h2>4. Could my health care provider be required to disclose any of my info without my permission?</h2>
<p><a href="https://www.hhs.gov/hipaa/for-individuals/guidance-materials-for-consumers/index.html">There are exceptions</a> to HIPAA’s nondisclosure requirements. For example, HIPAA regulations allow covered health care providers to disclose patient information to help treat another person, to protect public health and for certain law enforcement purposes.</p>
<p>There are additional exceptions that apply during a pandemic. For instance, while health departments may have access to information about people in their district who’ve tested positive for COVID-19, HIPAA and other privacy laws require them not to release any more information than is needed to keep people safe. So, health departments will provide information about how many people have tested positive and how many people are hospitalized, but they won’t release any names to the general public. Health department contact tracers may reveal identities of individuals if it’s really necessary to alert specific people that they may have been exposed.</p>
<p>[<em>Deep knowledge, daily.</em> <a href="https://theconversation.com/us/newsletters/the-daily-3?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=deepknowledge">Sign up for The Conversation’s newsletter</a>.]</p>
<p>HIPAA covers President Trump just as it does you and me. There may be good reasons that people want to know more about the president’s health, but his health providers can provide the public only with information about his health that he has allowed them to share. They shouldn’t say anything that isn’t true, but they can certainly omit information.</p>
<h2>5. What if someone violates my rights under HIPAA?</h2>
<p>Only the government can bring a claim if an individual’s protected health information is breached. So to bring a federal claim, you would need to work with the Office of Civil Rights at the U.S. Department of Health and Human Services. You may be able to sue under state law and use the breach of your HIPAA rights as evidence.</p>
<p>Some people who are particularly worried about their privacy may ask health care providers to sign a nondisclosure agreement that gives them additional claims and the right to sue directly if there is a breach.</p><img src="https://counter.theconversation.com/content/147805/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Margaret Riley 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 health law expert explains what the regulation does and doesn’t protect.Margaret Riley, Professor of Law, Public Health Sciences, and Public Policy, University of VirginiaLicensed 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/1053972018-12-18T19:13:39Z2018-12-18T19:13:39ZDramatic advances in forensics expose the need for genetic data legislation<figure><img src="https://images.theconversation.com/files/243781/original/file-20181104-83638-v9mo5s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The issues surrounding the use of genetic data are complex.</span> <span class="attribution"><span class="source">image created by James Hereward and Caitlin Curtis</span></span></figcaption></figure><p>Many people first became familiar with DNA testing through its use in the OJ Simpson murder trial in 1994. Now, 24 years later, there have been two dramatic advances in the capability of forensic genetics that mark the start of a new era. </p>
<p>The first is the amount of information we can predict about a person from DNA found at a crime scene, and the second is the way police can use open genealogy databases to identify people. </p>
<p>But we need to be careful how we use these new tools. If people lose trust in how DNA data is used and shared by police, it could have an adverse impact on other applications – such as medical care. </p>
<p>That’s why we’re calling for a <a href="https://doi.org/10.1038/s41436-018-0396-7">Genetic Data Protection Act</a> to ensure people have confidence in the way their DNA is accessed and used.</p>
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Read more:
<a href="https://theconversation.com/dna-facial-prediction-could-make-protecting-your-privacy-more-difficult-94740">DNA facial prediction could make protecting your privacy more difficult</a>
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<h2>We can learn a lot more from DNA now</h2>
<p><a href="http://www.pnas.org/content/114/38/10166">Predicting traits from DNA</a>, known as “DNA phenotyping”, is improving. Facial prediction, health traits, predisposition to disease, even personality traits and things about our mental health can be predicted from genetic data. Some <a href="https://synapse.koreamed.org/DOIx.php?id=10.7580/kjlm.2017.41.2.23&vmode=PUBREADER">researchers</a> are even considering predicting propensity to drink or smoke.</p>
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<img alt="" src="https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=177&fit=crop&dpr=1 600w, https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=177&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=177&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=222&fit=crop&dpr=1 754w, https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=222&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/243767/original/file-20181104-83638-1d8t1jh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=222&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">We’re getting better at predicting physical traits, like faces, from DNA data.</span>
<span class="attribution"><span class="source">Composite from PNAS</span></span>
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<p>Law enforcement agencies around the <a href="http://science.sciencemag.org/content/360/6391/841">world</a> are using these traits to create predictive DNA “mugshots”, but in many countries there is no specific regulation on how and when they should be incorporated into policing.</p>
<p>And some types of predictions raise considerable ethical issues. </p>
<p>For example, should it be OK for law enforcement to predict the mental health or disease risk of a suspect? If so, should that information be used in a trial? If law enforcement predicts a high risk of a particular disease, should they be compelled to tell a suspect or their family? </p>
<h2>Separation between databases is breaking down</h2>
<p>You may be familiar with “CODIS” from CSI, this is the database that law enforcement has traditionally used to identify DNA collected at a crime scene. CODIS has around <a href="https://www.fbi.gov/services/laboratory/biometric-analysis/codis/ndis-statistics">17.7 million</a> DNA profiles. There are strict rules around who can be included in these databases, and the vast majority of profiles are from convicted offenders. </p>
<p>According to best estimates, the number of people who have taken genetic ancestry tests is slightly <a href="https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart">higher</a> than this, and police have started using this <a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">data</a> as well. The type of data in CODIS only allows close family matches, but the type of data in open ancestry databases allows much deeper relations to be found. </p>
<p>Even if you haven’t participated in genetic testing or made your genetic data public, you may have a relative who has. Currently, law enforcement is able to identify people based on matches as distant as third cousins. </p>
<p>On average, people have around <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0034267">190</a> third cousins. <a href="https://gcbias.org/2018/05/07/how-lucky-was-the-genetic-investigation-in-the-golden-state-killer-case/">One estimate</a> indicates that over 90% of Americans of European descent already have a third cousin or higher in the open genealogy database GEDmatch. It may take as little as 2% of the population uploading their DNA data in a genealogy database for the <a href="https://www.abc.net.au/news/science/2018-10-12/genealogy-forensics-dna-long-range-familial-searches-identity/10363550">entire population</a> to be identified this way. </p>
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<img alt="" src="https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=649&fit=crop&dpr=1 600w, https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=649&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=649&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=815&fit=crop&dpr=1 754w, https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=815&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/243779/original/file-20181104-83651-yfqegh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=815&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">The 238 relatives in your generation that might be affected if you share your genetic data.</span>
<span class="attribution"><span class="source">image designed by James Hereward and Caitlin Curtis</span></span>
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<p>New statistical methods mean separations between previously distinct genetic databases are disappearing. Traditional forensic markers can now be <a href="https://www.cell.com/cell/fulltext/S0092-8674(18)31180-2#secsectitle0020">cross referenced</a> to ancestry data, even though they are completely different types of genetic data. This means close family members could be identified across different databases. These methods can also be used to re-identify subjects in medical genetics research projects.</p>
<p>There has been a lot of public support for the use of genetic genealogy to catch serial killers and rapists. In some cases, people are voluntarily uploading their data to help these efforts. </p>
<p>But where should we draw the line? Should genetic data only be used in serious crimes, or are we happy to have a comprehensive system of genetic surveillance that covers the entire population? </p>
<h2>Private companies are aiding law enforcement</h2>
<p>Both <a href="https://snapshot.parabon-nanolabs.com/phenotyping">DNA phenotyping</a> and forensic genealogy – which relies on amateur genealogists – are now being offered to law enforcement by private companies. </p>
<p>Parabon, a US-based pharmaceutical company, has partnered with armchair genealogist <a href="https://www.technologyreview.com/s/611529/the-citizen-scientist-who-finds-killers-from-her-couch/">Cece Moore</a>. She started using genetic genealogy to find the parents of adoptees and children born through sperm donation, but now uses it to catch criminals.</p>
<p>Parabon also offers facial prediction services. While the science of facial prediction from DNA is getting better, it is still contentious, and several prominent scientists have cast <a href="http://science.sciencemag.org/content/360/6391/841">doubt</a> on whether Parabon can really do what it is promising.</p>
<p>Nevertheless, this move out of government labs and into private ones raises questions about oversight – and what exactly is happening to the data generated.</p>
<h2>Genetic data is different from other kinds of data</h2>
<p>Genetic data is highly unique and can be thought of as a personal 15 million letter pin-code. Since the code doesn’t just identify us, it also contains important information about our disease risk, personality traits and even our physical features like our face, it is very difficult to keep anonymous. </p>
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<img alt="" src="https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=346&fit=crop&dpr=1 600w, https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=346&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=346&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=434&fit=crop&dpr=1 754w, https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=434&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/243762/original/file-20181104-83626-8p1m11.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=434&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Genetic data is different from other kinds of data.</span>
<span class="attribution"><span class="source">Edited from Shutterstock image</span></span>
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<p>Unlike a credit card we can’t request a new genome if our data is compromised. And a stolen credit card won’t tell a perpetrator anything about the finances of our family members. </p>
<p>We understand what happens if we lose a credit card, but our understanding of genetic data is still developing. And we’re likely to see it put to unexpected uses in the future.</p>
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Read more:
<a href="https://theconversation.com/its-time-to-talk-about-who-can-access-your-digital-genomic-data-87682">It's time to talk about who can access your digital genomic data</a>
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<h2>We need a ‘Genetic Data Protection Act’</h2>
<p>Technological advances in genomics are outpacing public awareness, and existing legislation doesn’t fit genetic data well. Under current laws, the lab that produces the genetic data has ownership of the record. But if our genetic data represents a deep part of the essence of us, it shouldn’t be this easy for us to give up ownership of it. </p>
<p>We need new ways to protect genetic data to maintain trust in medical genomics. Sometimes people need their genome sequenced for medical purposes, but they might be reluctant to consent if trust has broken down around how genetic data could be used. That could result in poorer medical outcomes.</p>
<p>One <a href="https://doi.org/10.1038/s41436-018-0396-7">solution</a> to prevent this is a specific “Genetic Data Protection Act”, which would grant people ownership of their own data. However, it must be different from standard property rights: ownership should be immutable and nontransferable.</p>
<p>The issues around use of our genetic data are complex, individuals (and their descendants) must be protected. Under no circumstances should it be possible for an individual to unwittingly sign an agreement that results in a loss of control of their genetic data. Legislation is part of the solution, but education and new technological solutions will also be important.</p>
<p>The recent introduction of the digital <a href="https://www.smh.com.au/politics/federal/morrison-government-under-pressure-to-rewrite-my-health-record-legislation-20181024-p50bom.html">My Health Record</a> shows that Australians care about who is accessing their sensitive information. And people are already <a href="https://reports.norc.org/issue_brief/genetic-testing-ancestry-interest-but-privacy-concerns/">expressing unease</a> about the confidentiality of their genetic data. </p>
<p>We must establish clear boundaries about how genetic data generated for medical purposes is used – whether by police or by any other interested parties. Giving genetic data the protection it needs, and making sure that medical genetic data doesn’t become a forensic resource will be crucial to ensure public trust in medical genetics.</p><img src="https://counter.theconversation.com/content/105397/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Caitlin Curtis is affiliated with the Queensland Genomic Health Alliance and the University of Queensland Genomics in Society Initiative.</span></em></p><p class="fine-print"><em><span>James Hereward receives funding from the Cotton Research and Development Corporation (CRDC). The project investigates the evolution of herbicide resistance in weeds.</span></em></p><p class="fine-print"><em><span>John Devereux receives funding the Queensland Genomics Health Alliance (QGHA) and The University of Queensland to undertake research into the Ethical, Legal and Social Implications (ELSI) of genomics. </span></em></p><p class="fine-print"><em><span>Karen Hussey receives funding from the Queensland Genomics Health Alliance (QGHA) and The University of Queensland to undertake research into the Ethical, Legal and Social Implications (ELSI) of genomics. She is a member of the Noosa Biosphere Reserve Foundation, the TJ Ryan Foundation Board, WWF Australia Expert Scientific Panel, and the Climate Council. </span></em></p><p class="fine-print"><em><span>Marie Mangelsdorf is affiliated with The University of Queensland Genomics in Society Initiative and the Queensland Genomics Health Alliance. </span></em></p>Police have powerful new genetic tools. How are we going to regulate their use? A Genetic Data Protection Act is one solution to ensure confidence in the way DNA is accessed and used.Caitlin Curtis, Research fellow, Centre for Policy Futures (Genomics), The University of QueenslandJames Hereward, Research fellow, The University of QueenslandJohn Devereux, Professor of Law, The University of QueenslandKaren Hussey, Director, Centre for Policy Futures, The University of QueenslandMarie Mangelsdorf, Research Fellow (Genomics), The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1038692018-10-26T10:00:14Z2018-10-26T10:00:14ZDNA sequencing is inadvertently exacerbating social biases and inequalities<figure><img src="https://images.theconversation.com/files/242289/original/file-20181025-71020-1rd4rzl.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/dna-sequence-255876943?src=wjYy-n8E_WQKCQTkD2aEBg-1-10">Gio.tto/Shutterstock</a></span></figcaption></figure><p>At the cutting edge of modern science, DNA sequencing promises to transform many aspects of human life. It’s already playing a significant role in law enforcement, as well as medical and historical research. But there’s a growing inequality in its impacts and in the chances of your genetic data being recorded – whether that’s by choice, for research or medical benefit, or by compulsion by the state.</p>
<p>Britain’s home secretary, Sajid Javid, apologised to parliament on October 25 for his department’s <a href="https://www.bbc.co.uk/news/uk-45979359">compulsion of immigration applicants</a>, including 51 relatives of British Army Gurkhas, into DNA testing to prove their identity. The revelations, first reported in <a href="https://www.ft.com/content/7358cafc-7ec7-11e8-bc55-50daf11b720d">June,</a> were the latest indictment of the impacts of the government’s “<a href="https://theconversation.com/hostile-environment-the-uk-governments-draconian-immigration-policy-explained-95460">hostile environment</a>” immigration policies. In his <a href="https://www.gov.uk/government/speeches/home-secretary-statement-on-the-use-of-dna-evidence-in-immigration-applications?utm_source=72bcc42f-3d4a-48e6-a143-508f9974bf88&utm_medium=email&utm_campaign=govuk-notifications&utm_content=immediate">statement</a>, Javid said that 83 applications had been refused, including seven which had been refused purely on “suitability grounds”, because applicants had not submitted to mandatory genetic testing.</p>
<p>But the UK is not alone in employing this innovative technology to enforce its borders – <a href="https://www.bbc.co.uk/news/world-us-canada-45023505">Canada</a>, <a href="https://www.dw.com/en/france-delays-dna-test-for-immigrants/a-4686259">France</a> and <a href="https://www.aftenposten.no/norge/i/a2paQM/Regjeringen-innforer-DNA-tester-for-a-stanse-juks-med-familieinnvandring">Norway</a> are also adopting or considering adoption of these techniques. Meanwhile, border forces under the Trump administration recently used compulsory DNA tests to reunite migrant families <a href="https://edition.cnn.com/2018/07/05/politics/dna-testing-migrant-family-separation/index.html">they had forcibly separated.</a>.</p>
<p>While in each individual case familial DNA testing would give some additional “proof” of relationship to investigators, across Western countries a system seems to be in creation where compulsion to DNA test becomes a prerequisite of citizenship for certain migrants. Yet it’s a piece of evidence that would not be required of non-migrants in any similar civil or criminal proceeding.</p>
<p>The inequalities in access to and use of DNA by the state do not end there, however.</p>
<p>DNA matching is a standard and valuable aspect of modern policing, proving essential in thousands of cases. One less publicised branch of genetic policing is <a href="https://www.whatdotheyknow.com/request/257432/response/636667/attach/3/Familial%20Search%20Tactical%20Guidance.pdf%20010415.pdf">familial DNA matching</a>. This has been <a href="https://www.bbc.co.uk/news/uk-england-nottinghamshire-45561514">used since the late 2000s</a> where crime scene DNA samples do not 100% match a person in the National DNA Database, but can be used to identify a close relative.</p>
<h2>Built-in inequalities</h2>
<p>While significantly aiding investigations, these systems have inadvertently created a genealogical bias in detection: if a relative of yours has been criminalised, you are more likely to be identified than if a relative of yours hasn’t. This bias is predicated on socioeconomic factors and likely to exacerbate existing inequalities and discrepancies in policing. And this is particularly the case when we consider which criminals are more likely to have been caught previously: the middle-class cocaine user or the inner-city gang member? The corporate fraudster or the shoplifter on the poverty line?</p>
<p>Police give reasons such as socioeconomic factors and the practicalities of policing to justify the large over-representation of young black men in their DNA database <a href="https://www.theguardian.com/world/2006/jan/05/race.ukcrime">compared to other population groups</a>. Still, there are real implications for whole communities when everyone closely related to each young black man is also now detectable, whether guilty or not – while this is far rarer for members of other communities.</p>
<p>In <a href="https://www.reuters.com/article/us-sweden-roma/police-database-of-roma-stirs-outrage-in-sweden-idUSBRE98M0EM20130923">Sweden</a>, <a href="http://libertes.blog.lemonde.fr/2010/10/07/le-fichier-des-roms-du-ministere-de-linterieur/">France</a>, and <a href="https://www.groene.nl/artikel/93-roma-jongeren-waarvan-62-leerplichtig">the Netherlands</a> in the past decade, authorities have been censured when it has been discovered that they have kept “family trees” and registration lists of Roma communities – and these are just those caught doing this. Imagine the power of combining name lists and family trees with familial DNA evidence and the way in which whole communities could be monitored and traced by a hostile state, particularly in an increasingly populist and anti-minority political climate.</p>
<h2>White Western bias</h2>
<p>As a recent <a href="https://www.theguardian.com/science/2018/oct/08/genetics-research-biased-towards-studying-white-europeans">letter of warning</a> from a prominent geneticist to research bodies pointed out, current medical genetic databases, research projects and institutions are biased towards white Western populations. There has also been a huge boom in private medical genetic testing in recent years, provided on a pay-only basis, with the leading provider, 23andme, recently reaching five million users and signing <a href="https://www.cnbc.com/2018/07/24/glaxosmithkline-23andme-team-up-on-genetics-driven-drug-research.html">a drug development deal with GlaxoSmithKline</a>. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/242294/original/file-20181025-71042-3cw8as.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">
<figcaption>
<span class="caption">Sequencing your ancestry.</span>
<span class="attribution"><span class="source">Khairil Azhar Junos/Shutterstock</span></span>
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</figure>
<p>Global health inequalities are already heavily skewed towards affluent, developed nations. As the current trajectory of genetic medical research which we are frequently told is <a href="https://www.theguardian.com/science/2018/jul/03/nhs-routine-dna-tests-precision-cancer-tumour-screening">about to transform healthcare</a> is disproportionately focusing on white Western populations, we are likely to see this revolutionary technology further distorting inequalities, rather than generating better health for all humanity.</p>
<p>DNA testing for leisure is also a booming global industry, with more than ten million people tested <a href="https://www.ancestry.com/corporate/about-ancestry/company-facts">with the company Ancestry alone</a>. You can even <a href="https://www.google.co.uk/search?q=dog+dna+test&oq=dog+dna+test&aqs=chrome..69i57j0l5.2941j0j4&sourceid=chrome&ie=UTF-8">pay to get your dog DNA tested</a> to trace its origins and <a href="https://www.dna11.com/gift-solutions/dna-pet-portraits">create a DNA Pet Portrait for your living room</a>. Leisure testing is a pay-up-front business with ongoing costs if you wish to continue using online tools to find genealogical matches and build your family tree. Most of the online genealogy boom has been confined to Western – particularly anglophone – nations. This has distinct knock-on effects on the effectiveness of researching if you are not of these backgrounds.</p>
<p>While genetic origins from certain areas of Europe can give very specific geographic results, large swaths of the globe are <a href="https://www.marketplace.org/2018/05/25/life/23andme">very poorly represented in these databases</a>, making them a far blunter tool. Genealogy companies can potentially tell you what county of Ireland one of your ancestors came from but can’t be more specific than a whole sub-continent for parts of Africa and Asia.</p>
<p>The cost of genealogical genetic testing and currently limited drive among corporations to build up genetic profiles of underrepresented continents means that both use and effectiveness of DNA sequencing for leisure is highly socioeconomically, geographically and ethnically imbalanced.</p>
<p>So, in many cases, these phenomenal breakthroughs in deciphering the very code of life itself seem to be reinforcing and exaggerating existing power structures, rather than benefiting the entirety of humanity equally. Targeted and considered mitigation efforts from governments and corporations are essential if we are to redress the balance in the coming decades where DNA sequencing will play an ever more prominent role in society.</p><img src="https://counter.theconversation.com/content/103869/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Matthew Stallard receives funding from the Arts and Humanities Research Council and Economic and Social Research Council. </span></em></p>The chances of your genetic data being recorded by the state depend on who you are.Matthew Stallard, Research Associate, School of Arts, Languages, and Cultures, University of ManchesterLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1017022018-08-23T13:51:39Z2018-08-23T13:51:39ZHow an app is helping to collect genetic data in Ethiopia and Ghana<figure><img src="https://images.theconversation.com/files/232652/original/file-20180820-30596-199dq81.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic data holds a wealth of health information.</span> <span class="attribution"><span class="source">CI Photos/Shutterstock</span></span></figcaption></figure><p>Genetic technologies are poised to change the world. Want to eradicate a human disease such as cystic fibrosis or improve a person’s ability to run impossible distances or lift unimaginable weights? This may be possible in the future by using something called <a href="https://www.livescience.com/58790-crispr-explained.html">CRISPR to edit</a> an organism’s genetic makeup. How about rapidly sequencing a newborn’s genome, similar to an early scene in the 1997 movie <a href="https://nerdist.com/20-year-anniversary-gattaca-genetics/">Gattaca</a>? Next-generation sequencing may make this fiction a reality. </p>
<p>As these technologies continue to increase in ability and decrease in cost, we may soon be living in an age of genomics-informed health care.</p>
<p>Unfortunately, the “we” in the previous sentence only applies to at best 7% of the world’s population. For everyone else technologies such as next-generation sequencing and CRISPR gene editing are more science fiction than nonfiction. </p>
<p>Low or middle-income countries are where this technology is needed the most as they harbor the largest <a href="https://www.marchofdimes.org/global-report-on-birth-defects-the-hidden-toll-of-dying-and-disabled-children-full-report.pdf">burden of birth defects</a> and genetic diseases. Yet almost all low-income countries and many middle-income countries <a href="http://whqlibdoc.who.int/publications/2011/9789241501149_eng.pdf">lack</a> the necessary personnel, technology, infrastructure, and public and medical education capabilities needed to introduce medical genetics services.</p>
<p>To address this gap, my colleagues and I created the <a href="https://www.nature.com/articles/s41436-018-0069-6">MiGene Family History App</a>. It’s an Android-based mobile application that aims to introduce medical genetics services into low and middle-income countries. </p>
<p>The app is used by health care providers and collects and stores patient and family histories. It generates personalised genetic counselling information that can be delivered to patients and their families. And the data can also be used for epidemiologic analysis. </p>
<p>The app has already been piloted in an Ethiopian hospital and has since been rolled out to a teaching hospital in Ghana.</p>
<p>It’s important to point out that the technology the app uses is far from what’s required to perform genome sequencing or gene editing in Ethiopia. But our work is one of the many preliminary steps needed to bring attention to the need for genetic services in low and middle-income countries. </p>
<h2>Pilot project in Ethiopia</h2>
<p>The MiGene Family History App was designed jointly by teams at the University of Michigan and St. Paul’s Hospital Millennium Medical College in Addis Ababa. It was then programmed by xHub, a technology group in Ethiopia’s capital.</p>
<p>The first version of the app focuses on paediatric birth defects and genetic diseases. These include heart malformations, Down Syndrome, and neural tube defects. So we launched the app in the Paediatric and Obstetrics and Gynaecology departments at St. Paul’s. We also conducted <a href="https://www.nature.com/articles/s41436-018-0069-6">a study</a> about the app’s value and ease of use.</p>
<p>MiGene was loaded onto physicians’ and nurses’ tablets. It was then used to collect data in both departments, but with a focus on the general paediatrics ward. The staff told us they found the app easy to use. The app allowed us to provide the hospital with data on the incidence of birth defects and genetic diseases in the institution. For instance, we found that <a href="https://www.nature.com/articles/s41436-018-0069-6">approximately 12%</a> of all admitted patients were affected with a birth defect or genetic disease. Heart malformations and Down Syndrome were the most common conditions present. </p>
<p>Having this data will help to inform future decisions taken by Ethiopia’s ministry of health. For instance, it can assess the success of interventions such as the country’s <a href="https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-017-1506-2">folic acid</a> supplementation efforts, which were introduced as a strategy to decrease the incidence of birth defects of the brain, spine, or spinal cord. </p>
<p>While our study was intentionally small in scope, if use of the MiGene Family History App is expanded to other regions within Ethiopia it will provide more representative population data. </p>
<p>One of our most interesting <a href="https://www.nature.com/articles/s41436-018-0069-6">findings</a> was that the incidence of birth defects and genetic diseases at St. Paul’s was nearly identical to the incidence of birth defects and genetic diseases in <a href="https://www.nature.com/articles/s41436-018-0069-6">previously studied</a> children’s hospitals in high-income countries. </p>
<p>This confirms something that geneticists have long known: genetic disease affects everyone and doesn’t discriminate. That’s why it’s so crucial that the benefits of genetic technology are not limited to only those individuals fortunate enough to have been born into a rich country.</p>
<h2>Taking the tech further</h2>
<p>After the success of the pilot study in Ethiopia, MiGene Family History App has been expanded to include adult-onset non-communicable diseases such as cancer, hypertension, diabetes, and cardiovascular disease. It’s still in use at St. Paul’s and is now also being used at Korle Bu Teaching Hospital in Accra, Ghana.</p>
<p>Our future plans include improving the genetic testing capabilities available at St. Paul’s and launching a genetic counselling training curriculum at the hospital. This focus on patient and health care provider education is vital when introducing a new medical technology, such as genetic testing, into a country or region.</p><img src="https://counter.theconversation.com/content/101702/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>This work was funded by grants from the University of Michigan Department of Pediatrics including the Intramural Research
Funding Program (Benz Birth Defects Research Award) and the Percy and Mary Murphy Children’s Research Fund.</span></em></p>There is a need for genetic services in low and middle-income countries.Shane C Quinonez, Biochemical Geneticist, University of MichiganLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/876822017-12-03T19:18:52Z2017-12-03T19:18:52ZIt’s time to talk about who can access your digital genomic data<figure><img src="https://images.theconversation.com/files/196866/original/file-20171129-28892-1qyenc1.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C3000%2C1944&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The genome is becoming the unit of currency for all kinds of genetic testing. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/dna-sequence-124450252?src=_36btc90Z5cPO1oQDmWKpg-1-38">from www.shutterstock.com </a></span></figcaption></figure><p>We are approaching a time when you might be too scared to have your genome sequenced. </p>
<p>Only last week, a <a href="https://www.forensicmag.com/news/2017/11/us-senator-calls-ftc-investigate-dna-ancestry-companies">US senator called for an investigation</a> into the privacy policies of direct-to-consumer DNA companies. But this is only one piece of a puzzle that is about to get much more connected.</p>
<p>As with any kind of personal data there are a number of concerns regarding collection, transmission, storage and use. But unlike most other data, your genome reveals intimate information about not only you, but also the people to whom you are related. </p>
<p>It’s time to talk about who can access that data, how, when and why. </p>
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Read more:
<a href="https://theconversation.com/our-healthcare-records-outlive-us-its-time-to-decide-what-happens-to-the-data-once-were-gone-81325">Our healthcare records outlive us – it's time to decide what happens to the data once we're gone</a>
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<h2>The current situation</h2>
<p>Genetic databases are not new. For a while we have had <a href="https://www.acic.gov.au/our-services/biometric-matching/national-criminal-investigation-dna-database">law enforcement DNA databases</a>, <a href="https://www.alrc.gov.au/publications/18-human-genetic-research-databases/what-are-human-genetic-research-databases">medical genetic databases</a>, and <a href="https://www.ancestry.com.au/dna/">ancestry DNA databases</a>, among others. </p>
<p>Historically there has been a natural separation between these databases, because they tend to contain different types of genetic data. Medical genetic databases, for example, have typically screened specific genes, and this data is usually not variable enough to be useful in law enforcement. </p>
<p>Additionally, some databases have been governed by specific rules, such as those that limit <a href="https://www.fbi.gov/services/laboratory/biometric-analysis/codis/codis-and-ndis-fact-sheet">who can be included in law enforcement DNA databases</a>. </p>
<p>This is changing. The unit of genetic “currency” is becoming the same thing: the sequence of the entire human genome.</p>
<h2>The rise of the genomes</h2>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=502&fit=crop&dpr=1 754w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=502&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/195408/original/file-20171120-18581-1odzocm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=502&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Genome sequencing at the Sanger institute.</span>
<span class="attribution"><span class="source">Sanger Institute, Genome Research Limited</span></span>
</figcaption>
</figure>
<p>The rate of genome sequencing is increasing rapidly. Massive genomics projects are set to emerge in the <a href="https://www.england.nhs.uk/healthcare-science/personalisedmedicine/genomics/">United Kingdom</a>, <a href="https://www.utoronto.ca/news/u-t-sequence-genomes-10000-people-year-information-new-oil-say-university-toronto-scientists">Canada</a>, <a href="https://www.fiercebiotech.com/it/france-plans-745m-investment-to-build-235-000-genome-a-year-sequencing-operation">France</a>, and elsewhere. </p>
<p>The <a href="https://allofus.nih.gov/">US National Institutes of Health</a> has launched a <a href="https://ghr.nlm.nih.gov/primer/precisionmedicine/initiative">Precision Medicine Initiative</a> that aims to combine genetic and health data for one million people. China is investing more than <a href="http://www.bioworld.com/content/china-initiative-would-pour-billions-precision-medicine-0">US$9 billion</a> in a <a href="http://www.nature.com/news/china-embraces-precision-medicine-on-a-massive-scale-1.19108">similar initiative</a> – the pilot stage alone includes one million human genomes.</p>
<p>It’s not just governments. Private companies have also set their sights on massive human genome datasets. Craig Venter’s <a href="https://www.humanlongevity.com/">Human Longevity Inc.</a> is planning to sequence <a href="http://www.bio-itworld.com/2017/3/20/human-longevity-launches-whole-genome-product-massmutual-partnerships.aspx">a million genomes by 2020</a> and has <a href="http://www.sciencemag.org/news/2016/04/astrazeneca-partners-its-way-genomic-bounty">partnered with pharmaceutical giant AstraZeneca</a> to work towards this goal. </p>
<p>The marketplace of corporate, <a href="https://www.helix.com">direct-to-consumer genomics</a> companies is also rapidly expanding. Amazon (which claimed 45% of online sales on a record-breaking Black Friday) reported the <a href="https://www.businessinsider.com.au/amazon-top-selling-items-on-black-friday-2017-11?r=US&IR=T">23andMe DNA testing kit as one of its top 5 bestselling items</a>.</p>
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Read more:
<a href="https://theconversation.com/genetic-home-testing-why-its-not-such-a-great-guide-to-your-ancestry-or-disease-risk-79604">Genetic home testing: why it's not such a great guide to your ancestry or disease risk</a>
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<p>It’s impossible to put a precise figure on the number of genomes that have been sequenced to date. Projects like <a href="http://www.genomes2people.org/babyseqproject/">BabySeq</a> in the US point to a future in which genome sequencing may be a routine screen at birth.</p>
<h2>Genome data is not anonymous</h2>
<p>Keeping databases separate and anonymous may seem like a solution but this will be very <a href="http://www.nature.com/news/genetic-privacy-needs-a-more-nuanced-approach-1.12363">difficult to accomplish</a>. It is already possible, at least in some instances, to use information from a complete genome to locate the donor through searches of publicly <a href="https://www.nature.com/news/privacy-protections-the-genome-hacker-1.12940">available ancestry databases</a>.</p>
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<img alt="" src="https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/195403/original/file-20171120-18574-9husl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Faceless data?</span>
<span class="attribution"><span class="source">Gerd Altmann (geralt) @ pixabay</span></span>
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<p>More recently, a <a href="https://www.nature.com/news/geneticists-pan-paper-that-claims-to-predict-a-person-s-face-from-their-dna-1.22580">controversial</a> study claimed to be able to de-anonymise genomic data using <a href="http://www.frontlinegenomics.com/news/14484/genetic-code-builds-picture-face-dna">facial reconstruction</a>. In reality <a href="https://www.technologyreview.com/s/608813/does-your-genome-predict-your-face-not-quite-yet/">this isn’t possible yet</a> – but the <a href="http://technode.com/2017/11/16/ai-will-change-genomics-forever-and-chinese-companies-know-it/">application of AI</a> will certainly accelerate our understanding of these links. </p>
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Read more:
<a href="https://theconversation.com/google-may-get-access-to-genomic-patient-data-heres-why-we-should-be-concerned-80417">Google may get access to genomic patient data – here's why we should be concerned</a>
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<h2>Who wants your data, and why?</h2>
<p>Your genetic data could be useful to three main groups in society. </p>
<p><strong>1. Law enforcement</strong></p>
<p><a href="https://psmag.com/social-justice/law-enforcement-dna-database-police-medical-information">Law enforcement queries to commercial ancestry DNA databases</a> have already begun to blur the lines that have typically kept these databases apart. The controversial process of <a href="https://www.wired.com/2015/10/familial-dna-evidence-turns-innocent-people-into-crime-suspects/">familial searching</a> shows how data may be used from ancestry databases to make inferences about a suspect. In the US, the existence of federally <a href="https://www.thetrace.org/2017/09/new-york-city-gun-crime-dna-database/">unregulated genetic databases</a> may create further complication.</p>
<p>The establishment of mandatory DNA testing seems far-fetched, however that may not be the case everywhere. In 2015, Kuwait passed a <a href="http://news.kuwaittimes.net/website/kuwait-to-enforce-dna-testing-law-on-citizens-expats-visitors-tests-wont-be-used-to-determine-genealogy-affect-freedoms">law mandating DNA collections</a> from all citizens and residents, although this was <a href="https://www.newscientist.com/article/2149830-kuwaits-plans-for-mandatory-dna-database-have-been-cancelled/">revoked</a> earlier this year. </p>
<p>Closer to home, NSW Police Minister Michael Gallacher proposed that mandatory DNA collection from all newborns in Australia was “<a href="http://www.smh.com.au/breaking-news-national/national-dna-database-worth-discussing-20120328-1vyoo.html">something that needs to happen</a>”. Australia is not averse to surveillance of its population, as we have discovered with the <a href="https://www.ag.gov.au/RightsAndProtections/IdentitySecurity/Pages/Face-verification-service.aspx">national facial recognition system</a>. This system goes into effect in 2018, and both <a href="http://thenewdaily.com.au/news/national/2017/11/26/police-facial-recognition/">law enforcement</a> and <a href="https://www.theguardian.com/technology/2017/nov/26/government-could-allow-firms-to-buy-access-to-facial-recognition-data">private companies</a> are pushing for access.</p>
<p><strong>2. Private industry</strong></p>
<p>Commercial DNA test providers can be <a href="http://www.ancestry.com.au/cs/legal/lawenforcement">legally required</a> to hand over customer data <a href="http://www.ajc.com/news/national/can-police-legally-obtain-your-dna-from-23andme-ancestry/8eZ24WN7VisoQiHAFbcmjP/">to law enforcement</a>. The <a href="https://www.gizmodo.com.au/2017/10/what-dna-testing-companies-terrifying-privacy-policies-actually-mean/">privacy policies</a> that consumers agree to make it impossible to know who else will have access to the data.</p>
<p>What is clear is that a digitised genome has monetary value. Genetic data from direct-to-consumer companies has already <a href="https://www.newscientist.com/article/mg23631462-500-dna-testing-firms-are-cashing-in-our-genes-should-we-get-a-cut/">reportedly been sold</a> to <a href="https://www.forbes.com/sites/matthewherper/2015/01/06/surprise-with-60-million-genentech-deal-23andme-has-a-business-plan/#6d0036af2be9">pharmaceutical companies</a>. </p>
<p><strong>3. Insurance companies</strong></p>
<p>Our digital genomes provide information about our predisposition to various medical conditions and this is attractive to insurance companies. The predictive power of the genome is only going to <a href="http://genome.cshlp.org/content/25/10/1432.full">increase over time</a>. Once a consumer has taken a genetic test, they may be required to disclose that fact to an insurer or risk fraud charges. </p>
<p>What’s more, legislation protecting consumers from genetic discrimination is inadequate, and <a href="https://www.gizmodo.com.au/2017/05/are-americas-terrible-genetic-privacy-laws-hurting-science/">may be eroding in the US</a>. <a href="http://www.smh.com.au/national/health/insurers-discriminating-against-people-who-get-genetic-test-results-could-hobble-research-bioethicists-warn-20171102-gzd7vu.html">Access to insurance</a> is already being impacted in Australia.</p>
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Read more:
<a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">Australians can be denied life insurance based on genetic test results, and there is little protection</a>
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<h2>Let’s talk about the future</h2>
<p>Australia just created its first <a href="http://www.coaghealthcouncil.gov.au/Portals/0/Genomics%20Framework%20WEB_1.PDF">National Health Genomics Policy Framework</a>, for 2018-20, and this begins to create guidelines for genomic data. This policy is geared towards medical research, however, so would not apply to consumer DNA services, and does not make provisions for law enforcement access requests.</p>
<p><a href="https://blockgeeks.com/guides/what-is-blockchain-technology/">Blockchain</a> and <a href="http://med.stanford.edu/news/all-news/2017/08/genome-analysis-with-near-complete-privacy-possible.html">“genome cloaking” cryptography approaches</a> are being explored as a way to <a href="https://www.forbes.com/sites/patricklin/2017/05/08/blockchain-the-missing-link-between-genomics-and-privacy/#1e92b4144b77">give people control over their genomic data</a> and who can access it. <a href="https://zenome.io/">A new company</a> claims to offer a commercial, decentralised, blockchain system based on buying genetic services and selling access to genetic information. </p>
<p>Perhaps these approaches are part of the technological solution. But the central issue is this: should we own our genetic data, and should we as individuals be able to decide who can access it? </p>
<p>What is absolutely clear is that the future of genomic databases is almost here, and now is the time to figure out how we are going to allow this information to be used.</p><img src="https://counter.theconversation.com/content/87682/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>Do you own your own genetic data? The future of genomic databases is almost here, and now is the time to figure out how we are going to allow this information to be used.Caitlin Curtis, Honorary Research Fellow, The University of QueenslandJames Hereward, PostDoc Ecological and Evolutionary Genetics, The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/863852017-11-13T23:19:29Z2017-11-13T23:19:29ZHow the genomics health revolution is failing ethnic minorities<p>Statistics Canada recently released its <a href="http://www.cbc.ca/news/politics/census-2016-immigration-1.4368970">2016 census data</a>, which depicts a Canada that is more diverse than ever before. Today, nearly a quarter of Canadians belong to a “visible minority” and 1.7 million Canadians are Indigenous. </p>
<p>Having only recently returned to this country after finishing my PhD at the University of Oxford, where I studied genome sequencing and its impact on clinical practice, I have been constantly reminded of our diversity. And yet I know that this diversity is still entirely lacking from our <em>genomic data</em>. </p>
<p>Today, genomics is quickly becoming integrated into our health-care system. It is providing new targeted treatments for cancer, creating personalized drug regimens, and <a href="https://www.genomicsengland.co.uk/the-100000-genomes-project/">uncovering diagnoses for rare diseases</a> that were previously genetic mysteries. However, the lack of diversity in existing genomic data limits the ability of ethnic minorities — including Indigenous Canadians — to benefit from these advances in health care. And this perpetuates the very inequalities that caused the problem in the first place.</p>
<h2>White Canadians, incomplete databases</h2>
<p>Our genomes are recipe books for who we are. Individual variation in our genes — like changes in individual recipes — can provide extremely useful health information. This includes information on our risk of developing serious diseases, ranging from cancers to fatal heart conditions. </p>
<p>Today, when a health-care provider suspects that someone may have one of these genetic illnesses, they are able to read his or her genome sequence from cover to cover. <a href="https://www.genome.gov/27565109/the-cost-of-sequencing-a-human-genome/">Due to decreasing costs</a>, use of this technology has skyrocketed. Genome-based testing is helping provide diagnoses that were previously unimaginable — from new <a href="https://academic.oup.com/hmg/article/23/12/3200/697186">genetic causes of early-onset epilepsy</a> and <a href="https://www.nature.com/articles/ng.3970">birth defects affecting the heart</a>, to new <a href="https://www.nature.com/articles/ng.2983">drivers of cancer</a>.</p>
<p>An important step in the analysis process is determining how often a genetic “variant” occurs in healthy people. If a variant is too common in the wider population, it is unlikely to be harmful. Although we don’t have genome data for everyone, we do have extremely large databases of genome data from healthy individuals. We can use these as stand-ins for the wider population, to determine “normal” variation and which variants may cause problems. </p>
<p>Unfortunately, while growing in size, these databases are imperfect. There is normal genetic variation between human groups of different geographical origin. DNA-based ancestry tests, like <a href="https://www.23andme.com/en-ca/dna-ancestry/">23andMe</a>, use these differences to help tell you where you are from. </p>
<p>Genomic databases, however, mostly contain data from individuals of European descent. As a result, the data doesn’t actually reflect the wider population, but the wider <em>white</em> population. This is a product of <a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759">historical biases and inequalities</a>, and has real consequences for patients from groups who aren’t well represented. </p>
<h2>Misdiagnoses among African Americans</h2>
<p>Hypertrophic cardiomyopathy is an inherited heart condition that can cause sudden cardiac death. Cases often make headlines when professional athletes die suddenly, like NBA-bound rising star <a href="http://www.latimes.com/sports/la-sp-hank-gathers-dwyre-20150304-column.html">Hank Gathers’ tragic death in 1990</a>. </p>
<p>A <a href="http://www.nejm.org/doi/full/10.1056/NEJMsa1507092">study published last year</a>, however, showed that some African Americans were being misdiagnosed with the disease. This was not a biological problem, but a social one. Individuals of African descent were under-represented in the databases used for comparison. Variants that health-care providers thought caused the disease, and were regularly used to provide patients with positive diagnoses, were actually found to be common among healthy African Americans. </p>
<p>Instead of causing disease, they were simply ethnic differences with no harmful effect whatsoever. For individuals of African descent, these variants were “normal.” Patients were sent home with diagnoses of hypertrophic cardiomyopathy who didn’t actually have the condition.</p>
<p>In the sports industry, to avoid tragic deaths like Gathers’, athletes are often screened for these heart conditions. Many, such as Gathers and King McClure (pictured above), have been diagnosed correctly. But experts have said <a href="http://www.npr.org/sections/health-shots/2016/08/17/490386306/study-of-sudden-cardiac-death-exposes-limits-of-genetic-testing">that the careers of some future sport stars may have been wrongfully cut short</a> on the basis of these harmless gene variants. </p>
<h2>Uncertainty for those of Asian descent</h2>
<p>This problem is not specific to this heart condition, but true of all genetic diseases diagnosed in the same way. The problem is also not specific to African Americans — the same is possible for all ethnic groups missing from these databases. </p>
<p>A <a href="https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201776a.html">recent study</a> showed that individuals of Asian descent were much more likely to receive uncertain results from genome sequencing than if they were white. This means that their health-care providers were unable to provide them with a diagnosis through genome sequencing, unlike their white counterparts. </p>
<p>There is also a greater chance they might receive unnecessary preventative treatment as a result, including drugs and even surgeries.</p>
<h2>Indigenous peoples left behind</h2>
<p>In recent years, with the increased use of genome sequencing, these databases have grown enormously in size. Through international collaboration, the <a href="http://gnomad.broadinstitute.org/">Genome Aggregation Database</a> now has sequence data for over 100,000 individuals. </p>
<p>This has dramatically improved our ability to analyse very rare variants, helping us to better diagnose the diseases they cause. This has included a push to increase representation of some groups: today individuals of African and Asian descent are much better-represented than they were ten years ago. </p>
<p>Representation from other groups, however, is still lacking. </p>
<p>Notably, in Canada, genome sequence data from Indigenous peoples is almost entirely missing. This is particularly problematic, because individuals from these communities often present with genetic conditions unique to their communities. As a consequence, they are often extremely difficult to diagnose at the genetic level. </p>
<p>Without a genetic diagnosis, it is nearly impossible to predict who else in a family is at risk. This hinders our ability to prevent, manage and treat genetic diseases in these populations. </p>
<h2>Disrupting the equilibrium</h2>
<p>There is a way forward. Recruitment of individuals from under-represented groups, <a href="https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201776a.html">even in small numbers</a>, can dramatically improve our ability to diagnose genetic disease. Collecting more diverse data will allow us to broaden our definition of “normal” variation beyond that of white Europeans. </p>
<p>To do so, it is essential that we acknowledge the biases of the past. We must work to understand and address the barriers (both systematic and cultural) to enrolling individuals from underrepresented ethnic groups. Only by doing so can we collect the data needed to provide individuals in these groups with the same level of care as the rest of the population.</p>
<p>It is essential that we disrupt this equilibrium before it’s too late. We must all work together to diversify genomic databases so that everyone can benefit equally from the genetic revolution.</p><img src="https://counter.theconversation.com/content/86385/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>Genome sequencing is transforming the way we diagnose disease. But lack of diversity in genomic data means only some Canadians will benefit from this revolutionary technology.Michael Mackley, Junior Fellow, MacEachen Institute for Public Policy and Governance; Medical Student, Dalhousie UniversityLicensed as Creative Commons – attribution, no derivatives.