tag:theconversation.com,2011:/us/topics/dna-data-47199/articlesDNA data – The Conversation2022-11-29T03:25:33Ztag:theconversation.com,2011:article/1943492022-11-29T03:25:33Z2022-11-29T03:25:33ZAt-home DNA tests just aren’t that reliable – and the risks may outweigh the benefits<figure><img src="https://images.theconversation.com/files/497801/original/file-20221129-12-tti4co.jpeg?ixlib=rb-1.1.0&rect=38%2C71%2C3650%2C2809&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>The field of genomic science is rapidly advancing, with commercial genetic tests becoming <a href="https://www.globenewswire.com/news-release/2022/04/13/2421920/0/en/DNA-Test-Kits-Market-to-Cross-US-2-7-Bn-Mark-by-2030-TMR-Report.html">affordable and popular</a>. </p>
<p>Taking these tests is simple. The company sends you a collection kit. You send it back with a saliva sample or cheek swab. The sample is sequenced and analysed, and before long you have your results.</p>
<p>However, upon a closer look you’ll find commercial genetic tests come with several hidden risks, and consumers often don’t understand what they’re signing up for. Here are some important factors to consider if you’re thinking of getting one.</p>
<h2>Ancestry tests</h2>
<p>The most common personal genomics tests are ancestry tests, offered by companies including <a href="https://www.ancestry.com.au">Ancestry</a>, <a href="https://www.cnbc.com/2022/01/25/how-one-of-googles-earliest-genetic-experiments-23andme-paid-off.html">23andMe</a>, <a href="https://www.familytreedna.com">FamilyTreeDNA</a> and <a href="https://www.myheritage.com/index.php">MyHeritage</a>. </p>
<p>Ancestry tests are marketed as a way to explore your ancestral origins. But since different companies use different methods, and even different “ethnicity” categorisations, you may get <a href="https://gizmodo.com/how-dna-testing-botched-my-familys-heritage-and-probab-1820932637">inconsistent results</a>. For example, Kristen V. Brown wrote <a href="https://gizmodo.com/how-dna-testing-botched-my-familys-heritage-and-probab-1820932637">for Gizmodo about</a> how her saliva sample produced three different results from AncestryDNA, 23andMe and National Geographic. </p>
<p>In another example, a 2019 CBC Marketplace <a href="https://www.cbc.ca/news/science/dna-ancestry-kits-twins-marketplace-1.4980976">experiment involved</a> sending the DNA of identical twins to five different companies. Each company returned surprisingly different results. Mark Gerstein, a Yale University bioinformatics expert, suspected the differences came down to different algorithms being used to process the raw data. </p>
<h2>Health tests</h2>
<p>The industry also offers tests for a variety of health conditions. A test may claim to provide you with predictions of your risk of developing breast cancer or Alzheimer’s. Carrier tests indicate whether you’re likely to pass on a particular condition to your child.</p>
<p>But users can get contradictory results here too. One company might indicate you’re at a heightened risk of colon cancer, while another might say you have reduced risk. Not to mention genes are only one factor in most complex diseases.</p>
<p>In an investigation by the US Government Accountability Office, tests from four companies delivered highly <a href="https://www.gao.gov/assets/gao-10-847t.pdf">varied results</a>. The report concluded:</p>
<blockquote>
<p>The test results we received are misleading and of little or no practical use to consumers. […] The experts we spoke with agreed that the companies’ claims and test results are both ambiguous and misleading.</p>
</blockquote>
<p>A genetic test in a medical clinic is governed by many rules and laws. A commercial test bought online is mostly subject to the company’s own terms and conditions and privacy policy. And, as we all know, these terms and conditions are often <a href="https://www.forbrukerradet.no/side/250000-words-of-app-terms-and-conditions/">too long</a> and unreadable for most people.</p>
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<h2>Low predictive value</h2>
<p>Another type of test is a “<a href="https://journals.physiology.org/doi/full/10.1152/physiolgenomics.00104.2015">talent test</a>”, which purports to tell parents whether their child will have a high IQ, or excel in certain activities such as music or sport. These tests aren’t validated – and for many talents there’s <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034400/">no strong evidence</a> genes play a key role in their development.</p>
<p>Regarding talent tests for “sporting ability,” <a href="https://www.sports-injury-physio.com/post/genetic-dna-testing-sport">a consensus statement</a> published in the British Medical Journal of Sports Medicine said:</p>
<blockquote>
<p>[…] the consensus is that the predictive value of such tests in the context of training responses or talent identification in sport is virtually zero.</p>
</blockquote>
<p>Yet talent tests are growing in popularity, <a href="https://www.afr.com/companies/healthcare-and-fitness/chinese-parents-test-babies-dna-to-discover-their-talents-20191125-p53dqv">especially in China</a>. What’s particularly concerning is these tests may promote ideas of <a href="https://espace.library.uq.edu.au/data/UQ_4dffc30/geneticdeterminismandplace.pdf?Expires=1669678087&Key-Pair-Id=APKAJKNBJ4MJBJNC6NLQ&Signature=hnfszAD3nK5xmcLh1RIm4hIw2iKaclwVUgFcfy1Xopd5aU8B6bIKy-K0WoRew39P-PwwDH4lYO%7EjtZH78iSo7GkJeOh%7EInodh30JpY6RVwcrvSn-LnRLqq0aKLGJQOK0NM1qSMR91sV9%7EQ%7EUKD7i8yieNVtNYiMuLNyOCvovDzllXFhAqa62EJoi8qSUpdGSlIvxAD3Bmm9oGw4zXBaHAhRXJUkZoxKUbf%7EnfDeEPb2jdpv6Bsh%7EybFOt9HYrArJh-n2-gvR4IXek-PGrS-gWCqLlHrH%7ENBPT7po1XUsJhVpO8onmhTy62B1ez8BxsrhgnZ6o6Ef7MI9BKoPfBN81Q__">genetic determinism</a> – a flawed theory that suggests genes are the only reason we have certain abilities.</p>
<p>So-called “infidelity” tests are also highly problematic. With these, users can discreetly send in DNA samples of other people without their consent to supposedly find out whether their partner might be cheating.</p>
<p>Apart from being unethical and illegal in many countries (including Australia), the samples sent in would likely be taken from objects such as bed sheets or wine glasses, and are unlikely to be reliable. </p>
<h2>Inaccurate results are just the start of the problem</h2>
<p>Once your genetic data are in the hands of a company – with most market leaders based in the US – there’s a good chance they will stay there indefinitely. And unlike a bank PIN, you can’t just change your genetic code if something goes wrong. </p>
<p>Since we share a lot of our DNA with our relatives, disclosing our genomic data can create privacy risks for relatives, too. <a href="https://www.science.org/doi/10.1126/science.aau4832">One 2018 study</a> found many US citizens of European descent could be identified if their third cousin or closer had their DNA on an <a href="https://www.washingtonpost.com/science/2018/10/11/even-if-youve-never-taken-dna-test-distant-relatives-could-reveal-your-identity/">open-access or commercial database</a>.</p>
<p>Then there’s the risk of data breaches at DNA testing companies. <a href="https://www.komando.com/security-privacy/ancestry-com-suffers-big-data-leak-300000-user-credentials-exposed/435921/">AncestryDNA</a>, <a href="https://www.theverge.com/2018/6/5/17430146/dna-myheritage-ancestry-accounts-compromised-hack-breach">MyHeritage</a> and the genetic genealogy site <a href="https://cruwys.blogspot.com/2020/07/major-privacy-breach-at-gedmatch.html">GedMatch</a> have already been afflicted by such attacks.</p>
<p>Genetic information can also be used in criminal investigations, which means your data could be shared with <a href="https://www.nytimes.com/2020/08/01/technology/gedmatch-breach-privacy.html">law enforcement agencies</a>. FamilyTreeDNA has shared <a href="https://www.nytimes.com/2019/02/04/business/family-tree-dna-fbi.html">data with the FBI</a> in the past. Data can also be shared with <a href="https://globalnews.ca/news/4616715/ancestry-dna-test-deportation-cbsa/">immigration authorities</a> and other government entities that may use your (or your relative’s) data <a href="https://www.vice.com/en/article/y3pkgj/police-use-dna-phenotyping-to-limit-pool-of-suspects-to-15000">against you</a>. </p>
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<a href="https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Close up shot of a woman taking her own cheek swab" src="https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/497791/original/file-20221128-16-1p0y08.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Although most of the commercial DNA testing companies are based in America, they still service people in Australia and New Zealand.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>Additionally, <a href="https://www.scmp.com/tech/science-research/article/1932838/igene-hong-kong-biotech-start-prenetics-bringing-48-hour-dna">insurance</a> companies may use someone’s genetic data to determine risks, coverage and premiums. In 2018 US biotech Orig3n <a href="https://www.crowdfundinsider.com/2018/08/137259-chinese-e-insurer-zhongan-has-teamed-up-with-biotech-company-orig3n-for-health-tech-solutions/">partnered with</a> Chinese e-insurance company ZhongAn Insurance.</p>
<p>Similarly, 23andMe has partnered with at least 14 <a href="https://venturebeat.com/business/23andme-has-signed-12-other-genetic-data-partnerships-beyond-pfizer-and-genentech/">pharmaceutical companies</a> to research a <a href="https://www.the-scientist.com/the-nutshell/23andme-genentech-partner-on-parkinsons-36114">range of diseases</a> and <a href="https://www.the-scientist.com/the-nutshell/23andme-genentech-partner-on-parkinsons-36114">develop new drugs</a>. Through such partnerships, businesses benefit from consumers’ data without compensating them.</p>
<h2>6 questions before clicking the purchase button</h2>
<p>The <a href="https://edinburghuniversitypress.com/book-buying-your-self-on-the-internet.html">lack of regulation</a> in the personal genomics industry means it’s impossible to predict how your genetic data might be used. Before you buy a test, or if you know someone who plans to, consider these questions: </p>
<ol>
<li><p>Given the sensitivity of the information and the risks involved, are you comfortable accepting the terms and conditions you (probably) haven’t read? </p></li>
<li><p>Many third parties may be interested in your genetic information. Are you happy for it to be shared with them? </p></li>
<li><p>Do you realise you don’t have the legal right to decide how long your personal data will be stored?</p></li>
<li><p>If you’re considering a test because of a health concern, did your doctor recommend it?</p></li>
<li><p>How would you respond if your ancestry results don’t match your sense of identity?</p></li>
<li><p>How would you feel if the company changed its policy and restricted your access to your own data?</p></li>
</ol>
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<img src="https://counter.theconversation.com/content/194349/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Andelka M. Phillips has received funding from the Borrin Foundation to research the legal and policy implications of Consumer Data Rights in the context of genetic testing services. This article represents the authors views; the Borrin Foundation is not responsible for the content of this article and has not endorsed it.
</span></em></p><p class="fine-print"><em><span>Samuel Becher has received funding from the Borrin Foundation to research the legal and policy implications of Consumer Data Rights in the context of genetic testing services. This article represents the authors views; the Borrin Foundation is not responsible for the content of this article and has not endorsed it.</span></em></p>Commercial tests often provide inconsistent results. Here are six questions to ask yourself before you pay for one.Andelka M. Phillips, Senior Lecturer in Law, Science and Technology, The University of QueenslandSamuel Becher, Professor of Law, Te Herenga Waka — Victoria University of WellingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1584222021-05-03T00:06:22Z2021-05-03T00:06:22ZLaws governing police use of DNA are changing: are the proposals fair for all New Zealanders?<figure><img src="https://images.theconversation.com/files/397969/original/file-20210429-17-2rjb8d.jpg?ixlib=rb-1.1.0&rect=28%2C0%2C9556%2C5389&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">www.shutterstock.com</span></span></figcaption></figure><p>By helping identify perpetrators and the remains of victims, forensic DNA analysis holds <a href="https://heinonline.org/HOL/LandingPage?handle=hein.journals/ajcl28&div=11&id=&page=">enormous power</a> to solve crimes. It also has enormous implications for privacy and fairness. But with science and society changing at such a pace, the law can struggle to keep up.</p>
<p>It is now 25 years since New Zealand’s <a href="https://www.legislation.govt.nz/act/public/1995/0055/latest/whole.html">Criminal Investigations (Bodily Samples) Act 1995</a> was written. Last year the New Zealand Law Commission recommended a complete overhaul of the law. Its report, <a href="https://www.lawcom.govt.nz/sites/default/files/projectAvailableFormats/Law%20Commission%20-%20DNA%20in%20Criminal%20Investigations%20-%20Report%20144.pdf">The Use of DNA in Criminal Investigations</a>, is now with the government for consideration.</p>
<p>While it contains 193 recommendations, the report still fails to engage with some of the most difficult issues involving DNA databanks.</p>
<p>At the heart of the issue is the offender databank, which the commission proposes limiting to DNA from people convicted of serious offences. While this might seem like a good balance between privacy and law enforcement, it sidesteps difficult philosophical questions:</p>
<ul>
<li><p>If DNA analysis is crucial in catching the guilty, eliminating the innocent and identifying the missing, why do we bank only the DNA of “criminals”?</p></li>
<li><p>Is having one’s DNA placed in a databank a form of punishment, or are databanks merely a regulatory tool for more efficient and accurate resolution of crimes?</p></li>
<li><p>If DNA banking is viewed as an element of punishment, how is its inclusion in sentencing authorised?</p></li>
<li><p>If being included in a databank is merely an investigatory tool, why not include every New Zealander’s DNA from birth?</p></li>
</ul>
<p><div data-react-class="Tweet" data-react-props="{"tweetId":"1331035648866746368"}"></div></p>
<h2>Whose DNA should we bank?</h2>
<p>Proponents of DNA databanks have always sat at an uncomfortable intersection: they claim databanks are not punitive, but simultaneously seek to limit those included in such databanks to people with criminal records.</p>
<p>The Law Commission recommends separating the various databank categories: elimination samples (the “innocent”), the missing and unidentified (“victims”), investigations (“suspects”) and offenders (the “guilty”). While most index profiles are expunged as soon as they are no longer needed, offender profiles would be expunged only on evidence the offender had “rehabilitated”.</p>
<p>The problem with this distinction between the treatment of offender profiles and all other profiles in the databank is that it further entrenches the dichotomy between those who “deserve” to have their DNA banked and those whose privacy warrants protection.</p>
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<p>DNA banking feels intuitively like a privacy invasion, but it is difficult to articulate why. When the US Supreme Court <a href="https://www.supremecourt.gov/opinions/12pdf/12-207_d18e.pdf">assessed the constitutionality</a> of expanding DNA databanks from convicted offenders to people who had only been arrested, it struggled to identify the privacy interest in not having one’s DNA collected and banked.</p>
<p>DNA profiles, the court argued, are effectively no different to fingerprints or mug shots. At the same time, however, the court emphasised DNA collection was limited to individuals “in valid police custody” who were arrested for “serious offences”, and did not apply to the general public.</p>
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<h2>Māori are over-represented</h2>
<p>Because New Zealand’s primary databank contains the DNA of “offenders” only, and because DNA profiles have hereditary components, who ends up in the databank has ethnic implications. Communities already over-represented in the criminal justice system are also over-represented in the DNA databank.</p>
<p>The commission acknowledged the over-representation of Māori in Aotearoa New Zealand’s databanks. But it didn’t adequately address the problem of potentially entrenching that disparity by filtering DNA profiles through the criminal justice system.</p>
<p>By recommending databanks remain limited to individuals involved in the criminal justice system, the commission helps perpetuate the mechanism that led to over-representation of Māori in databanks in the first instance.</p>
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<p>
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<p>Creating databanks from a specific (and relatively powerless) segment of society – convicted criminals – also avoids greater political scrutiny of the privacy and ethical issues involved. </p>
<p>If we want to ensure there are adequate political safeguards against the abuse of databank information, we should include the DNA profiles of the rich and powerful. </p>
<p>This is not to advocate for a universal DNA databank. But the sound philosophical and scientific arguments for broadening the scope of databanks – more accurate identification and elimination of suspects, eliminating ethnic disparities – suggest political justifications, rather than philosophical or practical ones, underlie the commission’s decision to bank the DNA only of serious offenders.</p>
<figure class="align-center ">
<img alt="exterior of prison with high fence and concrete walls" src="https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/397972/original/file-20210430-15-baxzn3.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Paremoremo maximum security prison near Auckland: why store only the DNA of people in the criminal justice system?</span>
<span class="attribution"><span class="source">GettyImages</span></span>
</figcaption>
</figure>
<h2>Casting the net too wide</h2>
<p>Compounding the problem is the commission’s decision to endorse <a href="https://www.nbcnews.com/news/us-news/familial-dna-puts-elusive-killers-behind-bars-only-12-states-n869711">familial searches</a>. These allow police to identify individuals in DNA databanks whose profiles have substantial similarity to a suspect sample. The police then use the identify of the family member in the databank to track down the suspect relative who is not.</p>
<p>Being Māori therefore not only increases an individual’s chances of being in the databank, but also of being targeted in a criminal investigation because a relative’s profile is in the databank. </p>
<p>The Human Rights Commission, <a href="https://www.temanararaunga.maori.nz/">Te Mana Raraunga</a> (the Māori Data Sovereignty Network), the New Zealand Law Society, the New Zealand Bar Association and the Māori Law Society all expressed concerns about familial searching in their submissions. </p>
<p>Their arguments included that it intruded on privacy, constituted unjustified discrimination on the basis of family status under the <a href="https://www.legislation.govt.nz/act/public/1993/0082/latest/whole.html#DLM304212">Human Rights Act 1993</a>, and was inconsistent with tikanga Māori.</p>
<p>The commission considered the issue, but ultimately endorsed familial searches with court authorisation.</p>
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Read more:
<a href="https://theconversation.com/dna-database-sold-to-help-law-enforcement-crack-cold-cases-128674">DNA database sold to help law-enforcement crack cold cases</a>
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<h2>Who should have access?</h2>
<p>The commission recommended restricting databank access to the police or their forensic providers, excluding independent researchers. But the commission’s reasoning for this could just as easily be used to argue <a href="https://link.springer.com/article/10.1057/s41292-019-00150-y">against the use of databanks</a> in the first place:</p>
<ul>
<li><p>the privacy and discrimination risks if new technologies allow identification profiles that are currently anonymous</p></li>
<li><p>lack of consent by individuals whose profiles are banked</p></li>
<li><p>racial justice concerns from the skewed ethnic composition of the databank.</p></li>
</ul>
<p>These are valid concerns, but independent research is the best way to determine the seriousness of the risks, how to mitigate them and whether they warrant discontinuing DNA banking and “cold hit” searching. </p>
<p>On the one hand, the commission acknowledges the risks. On the other, it insists there should be no independent (even anonymised) scrutiny of those risks.</p>
<p>Clearly, there is more work to be done here. The justice minister should seek answers to these questions before proposing an amendment to the law that could last another two decades.</p><img src="https://counter.theconversation.com/content/158422/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Carrie Leonetti 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>If storing DNA for criminal investigations helps identity the perpetrators and eliminate the innocent, why don’t we include samples from everyone?Carrie Leonetti, Associate Professor of Law, University of Auckland, Waipapa Taumata RauLicensed 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/1107552019-02-05T13:41:01Z2019-02-05T13:41:01ZPersonal DNA tests might help research – but they put your data at risk<figure><img src="https://images.theconversation.com/files/256605/original/file-20190131-108338-1q2hixh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/close-businessman-holding-glowing-dna-helix-683382997?src=X3fDTVJfgabc-LLmvLaQgQ-1-53">Eetu Mustonen/Shutterstock</a></span></figcaption></figure><p>Your DNA has become a valuable commodity. Companies such as 23andMe may charge you for an analysis of your genetic profile, but they make their real money from <a href="https://www.theguardian.com/commentisfree/2018/aug/10/dna-ancestry-tests-cheap-data-price-companies-23andme">selling that data</a> on to other companies.</p>
<p>Now healthcare providers are following suit by encouraging patients to take genetic tests that will create databases ostensibly for medical research. Britain’s National Health Service (NHS) <a href="https://theconversation.com/nhs-plan-to-sell-genome-sequencing-to-healthy-people-is-premature-110619">recently announced</a> that it was launching such a scheme in an attempt to build a database of anonymised genetic data for researchers.</p>
<p>But <a href="https://www.irishtimes.com/news/health/hospital-investigates-release-of-dna-samples-to-research-firm-1.3773529">recent reports</a> that Our Lady’s Children’s Hospital, Crumlin in Dublin – Ireland’s largest children’s hospital – allegedly shared patient DNA data with a private firm without appropriate consent highlights the potential risk that comes with giving up your genetic records. Your DNA contains sensitive information that can be used to make important personal decisions about you and your family members. When you hand over these details to a large database – whoever is building it – you are ultimately risking it being used in ways you can’t foresee and which aren’t always to your benefit.</p>
<p>The first questions are where your data will end up and who will have access to it. The NHS is attempting to keep control of the genetic data it gathers by sharing it with researchers at its own company, <a href="https://www.genomicsengland.co.uk/">Genomics England</a>. But there has been no indication of what purposes the data can be used for, or what limits will be placed on its use or transfer to other research centres or companies. In the past, Genomics England <a href="https://theconversation.com/google-may-get-access-to-genomic-patient-data-heres-why-we-should-be-concerned-80417">met with Google</a> to discuss how the tech firm might help analyse genetic data gathered under a previous scheme, the <a href="https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/">100,000 Genomes Project</a>. </p>
<p>A spokesperson for Genomics England told The Conversation that it had “no formal contractual relationship between Genomics England and Google”. However, it said: “We have a mutual interest in secure data storage and we have meetings from time to time. As part of our mandate to stimulate the UK genomics industry, we are in touch with Google Ventures. They invest in life sciences companies which may be interested in working with us.”</p>
<p>The recent Irish example of data transfer apparently without appropriate consent also reminds us that agreements and rules over who can access data can be broken. In January 2019, <a href="https://www.thetimes.co.uk/edition/ireland/crumlin-hospital-sent-dna-off-without-consent-mm5crwng0">an investigation was launched</a> into the alleged supply of 1,500 DNA samples from the Crumlin children’s hospital to Genomics Medicine Ireland (GMI) without proper authorisation from patients. </p>
<p>If these allegations are true, it would represent a breach of European data protection law, which requires explicit consent for the processing of DNA data. What is perhaps <a href="https://ieeexplore.ieee.org/document/8470173">more of a problem</a> is that even when people are told what will happen with their data, they may not understand those uses or its <a href="https://philpapers.org/rec/SCHTCO-98">potential consequences</a>.</p>
<p>Initiatives such as the NHS project are justified by claims that they offer an efficient way to <a href="https://theconversation.com/why-the-100-000-genomes-project-will-focus-on-rare-diseases-36155">diagnose rare</a> or undiscovered illnesses, speeding up treatment and improving patient outcomes. More broadly, proponents argue, <a href="https://theconversation.com/how-big-data-is-being-mobilised-in-the-fight-against-leukaemia-74281">sharing DNA data</a> can allow researchers to spot patterns that would otherwise go unidentified, increasing scientific understanding and aiding in the development of treatments.</p>
<p>But having your DNA sequenced isn’t just a way of finding out if you are at risk of a disease or making an altruistic contribution to an abstract research project. DNA data exposes our most inherent characteristics, revealing ethnic or racial groupings, as well as outlining current and future health issues. Some people have even tried to link <a href="https://www.technologyreview.com/s/610339/dna-tests-for-iq-are-coming-but-it-might-not-be-smart-to-take-one/">DNA tests to intelligence</a>.</p>
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<img alt="" src="https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/256608/original/file-20190131-112314-1ylmkh4.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">DNA files can easily be transferred.</span>
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<p>Concerns about linking individuals to the characteristics revealed by their DNA are usually countered by claims that the data is anonymised. But both <a href="https://www.telegraph.co.uk/news/health/news/10656893/Hospital-records-of-all-NHS-patients-sold-to-insurers.html">practical experience</a> and <a href="http://science.sciencemag.org/content/347/6221/536.full#ref-26">academic work</a> have shown that anonymised data can often be <a href="https://www.nature.com/articles/srep01376">reassociated with</a> the people it was collected from.</p>
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<a href="https://theconversation.com/your-nhs-data-is-completely-anonymous-until-it-isnt-22924">Your NHS data is completely anonymous – until it isn't</a>
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<p>So sharing your genetic information could expose you to potential discrimination if it ends up with the wrong people or is used for the wrong purposes. Being offered different health insurance coverage and at different prices is the most obvious risk. But depending on who buys the data, pharmaceutical companies, employers and even government authorities could access your DNA and <a href="https://theconversation.com/four-ways-your-google-searches-and-social-media-affect-your-opportunities-in-life-96809">make decisions</a> based on it.</p>
<p>Democratic governments can’t typically gather DNA evidence without the permission of a judge or via another legal procedure. But in the case of the “<a href="http://www.sciencemag.org/news/2018/10/we-will-find-you-dna-search-used-nab-golden-state-killer-can-home-about-60-white">Golden State Killer</a>”, US law enforcement agencies used DNA data from a public genealogy database to obtain evidence they wouldn’t otherwise have been able to collect. This raises concerns about the willingness of governments to use genetic records originally made to explore people’s ancestry for a very different purpose.</p>
<h2>Giving away family secrets</h2>
<p>The Golden State Killer case is all the more important because it highlights the most fundamental issue with DNA-sharing initiatives. When you share your DNA, you’re also sharing data about your entire family, who haven’t necessarily consented. The Golden State Killer didn’t get a DNA test but one of his relatives did. When enough people share their DNA, the genetic profile of entire communities becomes available.</p>
<p>A <a href="http://www.sciencemag.org/news/2018/10/we-will-find-you-dna-search-used-nab-golden-state-killer-can-home-about-60-white">study of the database</a> that was used to catch the killer estimated that it contained the profiles of 0.5% of the US population, yet this represented family members (third cousin or closer) of 60% of white Americans. With 2% of the population, that figure would increase to 90%.</p>
<p>GMI currently <a href="https://www.genengnews.com/insights/using-powered-cohorts-to-speed-drug-discovery-and-development/">plans to build</a> the world’s largest whole-genome database of some 400,000 participants – roughly a tenth of Ireland’s population – from a presence in all the country’s major hospitals. This would likely give the firm information on almost every family group in Ireland and a huge proportion of the Irish diaspora (<a href="https://www.dfa.ie/media/dfa/alldfawebsitemedia/newspress/publications/ministersbrief-june2017/1--Global-Irish-in-Numbers.pdf">estimated at 70m</a>), enabling it to identify the most private characteristics of a global population.</p>
<p>This shows how, when some people allow their DNA data to be shared, it could expose both them and their families to risk and erode the rights of everyone else, meaning we all have a stake in how genetic records are shared. Organisations must be required to be clearer about who will use the DNA data they collect, and for what to prevent risk of misuse.</p><img src="https://counter.theconversation.com/content/110755/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Roisin Costello receives funding from The Irish Research Council. </span></em></p>When you share your genetic data – even with the NHS – you don’t know where it will end up, or how it will be used.Roisin Costello, PhD Candidate, School of Law, Trinity College DublinLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/962572018-05-21T10:44:59Z2018-05-21T10:44:59ZDNA apps promise deeper insights for consumers – but at what cost?<figure><img src="https://images.theconversation.com/files/219580/original/file-20180518-42200-guicet.jpg?ixlib=rb-1.1.0&rect=372%2C0%2C2658%2C1853&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Users may want to know more than what’s in a basic report from a genetic testing company.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/ko/image-photo/hand-magnifying-glass-on-banded-dna-82806622">science photo/Shutterstock.com</a></span></figcaption></figure><p>Last month, law enforcement in California <a href="http://www.sacbee.com/news/local/crime/article209779364.html">apprehended the alleged Golden State Killer</a>, a serial murderer and rapist who terrorized the state during the 70s and 80s. Investigators triangulated to a suspect using a combination of DNA evidence left at crime scenes and publicly available genetic genealogy websites, <a href="https://www.nytimes.com/2018/04/26/us/golden-state-killer.html">most notably GEDMatch</a>.</p>
<p>Quite provocative in its own right, the incident has sparked <a href="https://cruwys.blogspot.com/2018/04/gedmatch-ysearch-and-golden-state-killer.html">much discussion and debate</a> about genetic privacy, ownership of genetic data and appropriate uses of DNA evidence, and database searching by law enforcement. <a href="https://scholar.google.com/citations?hl=en&authuser=1&user=cYI9flEAAAAJ">As a researcher studying</a> personal access to “raw” or uninterpreted genetic data and the ways people use it on third-party interpretation websites such as GEDMatch, I’m glad to see the public focusing on a few key distinctions in the world of personal genetic testing. There are notable but often underappreciated differences between the more well-known consumer testing companies and the third-party sites that promise users further interpretation of their data. </p>
<h2>After you get your DNA data …</h2>
<p>Direct-to-consumer (DTC) genetic testing has been relatively mainstream since around 2007. The two largest companies, 23andMe and AncestryDNA, have collectively amassed <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">over 10 million customers</a>. For a <a href="https://ghr.nlm.nih.gov/primer/dtcgenetictesting/dtccost">cost of around US$100</a>, DTC companies have you spit into a tube from which they extract your DNA. They focus on a predefined set of between half a million and a million sites – what geneticists call base pairs (the coupled As, Cs, Ts and Gs) – in your genome. This subset is less than 0.05 percent of the whole genome; <a href="https://doi.org/10.1016/j.atg.2016.01.005">few companies offer to sequence the entire thing</a>.</p>
<p>Depending on the company, this genetic information is then used to generate reports about genetic ancestry, physical traits, disease predispositions or relatedness to other customers in the company’s database. Most DTC companies also allow customers to download a file of their “raw” or uninterpreted genetic data. Essentially this is a long text file that lists all the sites genotyped by the company and the customer’s DNA sequence at those sites.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=522&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=522&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=522&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=656&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=656&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219483/original/file-20180517-26274-1m50mls.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=656&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Third-party tools take the raw DNA further than the first two parties: the individual who provided the DNA and the direct-to-consumer genetic testing company.</span>
<span class="attribution"><span class="source">Montage by Sarah Catherine Nelson</span></span>
</figcaption>
</figure>
<p>So now DTC customers have raw data files sitting on their hard drives that they may want to further leverage but aren’t sure how. Enter third-party interpretation websites run by other companies, entrepreneurs and citizen scientists. These online tools enable users to pursue further interpretation and analysis of their raw data files – perhaps also contributing to additional research. There are currently dozens of such tools, and the list seems to be growing.</p>
<p>If the past decade of consumer genomics has been a music festival, the large DTC companies have been playing the main stage, while third-party tools have been off performing smaller venues. They might have adamant fans and a loyal following, but they just haven’t been on the general public’s radar to the same extent as DTC testing. Similarly, there’s a <a href="https://doi.org/10.1002/mgg3.340">small</a> <a href="https://doi.org/10.1093/tbm/ibx009">amount</a> of <a href="https://doi.org/10.1038/ejhg.2017.126">research</a> <a href="https://doi.org/10.1007/s10897-018-0217-9">on third-party tools</a> compared to how much academic attention has been paid to DTC testing.</p>
<p>This group of apps and sites is also a very disparate genre. While you can parse them according to the primary categories of information DTC companies return – health, ancestry and relatives – they’re more varied in scale, modes of operation and other functionalities, like whether they’re connected with citizen science research initiatives.</p>
<h2>Spit versus genetic data</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219494/original/file-20180517-26281-ihjc59.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Users send off a biological sample from which the company extracts DNA data.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/brendanlim/5224050727">Brendan Lim</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
</figcaption>
</figure>
<p>One key difference between DTC companies and third-party websites is what you submit to them and how. Most DTC companies collect customer DNA samples via mail-in spit kits. Producing a milliliter or two of spit is surprisingly difficult – it’s definitely not something you’re going to do without noticing. Indeed companies settled on this method of sample collection in part <a href="https://int.customercare.23andme.com/hc/en-us/articles/214811338-Can-I-be-genotyped-anonymously">to avoid surreptitious testing</a> – meaning it’s unlikely someone can send in your sample without your knowledge.</p>
<p>The spit is the physical material from which the DTC companies extract DNA molecules that they then genotype to produce a file with the customer’s raw genetic data. Once encapsulated in a file, genetic data is quite portable and more difficult to control. You can email it, upload it or copy it onto thumb drives and ship to your 10 closest friends. Compared to spitting in a tube, you may not know if someone obtains and uploads your data file to a third-party site.</p>
<p>What third-party interpretation websites actually do with users’ genetic data files varies widely and is especially relevant to the Golden State Killer case. Some tools – one is Promethease – delete user data after a fixed and rather short period of time. The site holds onto it just long enough to generate the health-related report. Other tools never require data to leave the user’s own computer or device; instead, the analysis happens locally – for instance, GENOtation/Interpretome, David Pike’s utilities and the DNA Doctor smartphone app.</p>
<p>For other tools, retaining users’ data long term is central to the operation and mission. Genealogy-focused tools such as GEDMatch need to keep data to allow new users to search across the database for relatives – as is also the case with the DTC companies that offer a relative-finding service. Tools such as DNA.Land retain user data in part to conduct research studies. But even these tools that keep user data are not public or open databases; one can’t directly download or access other users’ raw genetic data. A notable exception is the <a href="https://doi.org/10.1371/journal.pone.0177158">open science project openSNP</a>, which explicitly makes all user data freely available for download in the interest of making science more accessible and collaborative.</p>
<h2>Physical versus informational property</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=471&fit=crop&dpr=1 600w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=471&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=471&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=592&fit=crop&dpr=1 754w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=592&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/219496/original/file-20180517-26308-2qsii8.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=592&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Once the genetic information has been extracted from a biological sample, the question of ‘ownership’ changes.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/jurvetson/5685505275">Steve Jurvetson</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<p>Another striking feature of genetic data is that once it’s been extracted from a physical sample it can be used in many places at once. 23andMe can have my genetic data and use it for research; I may also have it and use it in as many third-party sites as I choose. In a legal sense, the genetic data can be thought of like other informational or intellectual property: Its consumption is “<a href="https://plato.stanford.edu/entries/intellectual-property/#42InfNonRiv">non-rivalrous</a>,” meaning one person’s use does not interfere with another’s.</p>
<p>These features make genetic data different from physical property, which typically can’t be used by many people at once and may be exhausted over time. People often overlook that the bundle of property rights that could be considered for a physical specimen of DNA – a sample of spit or the DNA molecules extracted from it – are different than those of a genetic data file. <a href="https://www.casebriefs.com/blog/law/property/property-law-keyed-to-cribbet/non-traditional-objects-and-classifications-of-property/moore-v-regents-of-the-university-of-california-2/">Legal precedent holds</a> that individuals do not have property rights in their biospecimens. Potential ownership of personal genetic data, however, is really only now beginning to be <a href="http://genomemag.com/do-you-belong-to-you/">tested in the courts</a>.</p>
<p>Regardless of ownership questions, it’s difficult to maintain control of how genetic data is used in the distributed system of DTC genetic testing and third-party tools. Joseph DeAngelo didn’t submit his sample to a DTC company or upload his data to a third-party site. Instead, law enforcement used abandoned material to generate a genetic data file in the same format that one would download from a DTC company. But some of his more distant relatives apparently did do DTC testing. DeAngelo didn’t upload his genetic data to GEDMatch – investigators did – but some of his relatives uploaded theirs, allowing police to eventually trace their way to him.</p>
<h2>Leaping before looking</h2>
<p>What genetic and personal information are people exposing when they upload it to third-party sites? There is no blanket answer, as these tools differ markedly in what they offer and what they do behind the screen.</p>
<p>The bottom line is that third-party interpretation websites are a heterogeneous bunch. Most lack the large legal teams and technical management systems of the major DTC companies. And currently there’s not a clear regulatory framework for third-party tools. Indeed, many of the developers <a href="https://doi.org/10.1007/s10897-018-0217-9">view their activities as simply connecting</a> users to pre-existing genetic annotation sources and therefore not warranting stricter government oversight. The lack of regulatory clarity largely leaves it to individuals to do their due diligence before using any of these tools and services. We as a society are learning the hard way. When we aren’t paying (much) for a service, we and our data are the product.</p><img src="https://counter.theconversation.com/content/96257/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sarah Catherine Nelson does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Data and privacy issues are tangled up in the DNA reports consumers get from big genetic testing companies – and the third-party sites they turn to in order to glean more from their raw DNA.Sarah Catherine Nelson, Research Scientist in Biostatistics and PhD Candidate in Public Health Genetics, University of WashingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/947402018-05-02T07:05:39Z2018-05-02T07:05:39ZDNA facial prediction could make protecting your privacy more difficult<figure><img src="https://images.theconversation.com/files/215028/original/file-20180416-540-1s9cc4l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The science of DNA facial reconstruction is advancing rapidly.</span> <span class="attribution"><a class="source" href="https://snapshot.parabon-nanolabs.com/ & https://doi.org/10.1073/pnas.1711125114">Composite from Parabon and PNAS</a></span></figcaption></figure><p><em>Technologies for amplifying, sequencing and matching DNA have created new opportunities in genomic science. In this series <a href="https://theconversation.com/au/topics/when-dna-talks-53134">When DNA Talks</a> we look at the ethical and social implications.</em> </p>
<hr>
<p>Everywhere we go we leave behind bits of DNA. </p>
<p>We can already use this DNA to predict some traits, such as eye, skin and hair colour. Soon it may be possible to accurately reconstruct your whole face from these traces. </p>
<p>This is the world of “DNA phenotyping” – reconstructing physical features from genetic data. Research studies and companies like <a href="https://www.23andme.com/en-int/">23andMe</a> sometimes share genetic data that has been “anonymised” by removing names. But can we ensure its privacy if we can predict the face of its owner? </p>
<p>Here’s where the science is now, and where it could go in the future.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/is-your-genome-really-your-own-the-public-and-forensic-value-of-dna-95786">Is your genome really your own? The public and forensic value of DNA</a>
</strong>
</em>
</p>
<hr>
<h2>Predicting hair, eye and skin colour</h2>
<p>DNA phenotyping has been an active area of research by academics for several years now. Forensic biology researchers <a href="https://www.erasmusmc.nl/MScMM/faculty/CVs/kayser_cv?lang=en">Manfred Kayser</a> and <a href="https://science.iupui.edu/people/walsh-susan">Susan Walsh</a>, among others, have pioneered several DNA phenotyping methods for forensics. </p>
<p>In 2010, they developed the IrisPlex system, which uses six DNA markers to determine whether someone has blue or brown eyes. In 2012, additional markers were included to predict hair colour. Last year the group added skin colour. These tests have been made available via a <a href="https://hirisplex.erasmusmc.nl/">website</a> and anyone who has access to their genetic data can try it out.</p>
<p>Trait predictions are being used to address a number of questions. Recently, for example, they were used to suggest that the <a href="http://www.bbc.com/news/science-environment-42939192">“Cheddar Man”</a> (the UK’s oldest complete human skeleton) may have had <a href="https://www.biorxiv.org/content/early/2018/02/18/267443">dark or dark to black skin and blue/green eyes</a>. The predictive models are mostly built on modern European populations, so caution may be required when applying the tests to <a href="https://blog.insito.me/slicing-cheddar-man-down-to-size-43798bf764fa">other (especially ancient) populations</a>.</p>
<h2>The full picture</h2>
<p>Research on DNA phenotyping has advanced rapidly in the last year with the application of machine learning approaches, but the extent of our current capabilities is still hotly debated. </p>
<p>Last year, researchers from American geneticist Craig Venter’s company <a href="https://www.humanlongevity.com/">Human Longevity</a>, made detailed measurements of the physical attributes of around 1,000 people. Whole genomes (our complete genetic code) were sequenced and the data combined to make models that <a href="http://www.pnas.org/content/114/38/10166">predict 3D facial structure</a>, voice, biological age, height, weight, body mass index, eye colour and skin colour. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/how-cops-used-a-public-genealogy-database-in-the-golden-state-killer-case-95842">How cops used a public genealogy database in the Golden State Killer case</a>
</strong>
</em>
</p>
<hr>
<p>The study received strong backlash from a number of prominent scientists, including Yaniv Erlich, <a href="https://www.nature.com/news/privacy-protections-the-genome-hacker-1.12940">aka the “genome hacker”</a>. The study seemed to predict average faces based on sex and ancestry, rather than specific faces of individuals. The method of judging the predictions on small ethnically mixed cohorts was also criticised.</p>
<p>Even with accurate facial predictions, <a href="https://www.biorxiv.org/content/early/2017/09/06/185330">Erlich noted</a> that for this approach to identify someone in the real world:</p>
<blockquote>
<p>an adversary … would have to create [a] population scale database that includes height, face morphology, digital voice signatures and demographic data of every person they want to identify.</p>
</blockquote>
<p>Because without a detailed biometric database you can’t get from the physical predictions to a name.</p>
<h2>A database to match?</h2>
<p>It turns out that the Australian government is in the process of building such a database. “<a href="http://www.abc.net.au/news/2017-10-05/facial-recognition-coag-privacy-concerns-about-the-capability/9017494">The Capability</a>” is a proposed biometric and facial recognition system that will match CCTV footage to information from passports and driving licences. Initially billed as a counter-terrorism measure, there are already reports the service may be provided for a <a href="https://www.theguardian.com/technology/2017/nov/26/government-could-allow-firms-to-buy-access-to-facial-recognition-data">fee to corporations</a>. </p>
<p>At the same time, the <a href="https://www.ato.gov.au/General/Online-services/Voice-authentication/">Australian Tax Office</a> has just initiated a voice recognition service. It’s easy to imagine how this kind of system could be integrated with “The Capability”. </p>
<p>And it’s not only Australia establishing the capability to become a biometric, face-recognising surveillance state. India is deploying the <a href="https://economictimes.indiatimes.com/wealth/personal-finance-news/scared-of-aadhaar-misuse-lock-your-biometrics-now/articleshow/59285676.cms">Aadhar</a> system, and China leads the world in <a href="http://www.abc.net.au/news/2018-03-20/china-deploys-ai-cameras-to-tackle-jaywalkers-in-shenzhen/9567430">facial recognition</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=147&fit=crop&dpr=1 600w, https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=147&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=147&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=185&fit=crop&dpr=1 754w, https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=185&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/215794/original/file-20180421-75100-1m36a88.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=185&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The Australian Government is building a facial recognition system called The Capability that will match CCTV footage to information from passports and driving licences.</span>
<span class="attribution"><span class="source">Queensland Government</span></span>
</figcaption>
</figure>
<h2>DNA mugshots</h2>
<p>At present, most <a href="https://theconversation.com/from-the-crime-scene-to-the-courtroom-the-journey-of-a-dna-sample-82250">forensic DNA profiling</a> techniques rely on “anonymous” markers that match identity to a database, but reveal little else about a suspect. With advances in genomic technology, forensic genetics is moving toward tests that can tell us much more about someone.</p>
<p>There are a number of companies that offer DNA phenotyping services for a fee. One company, <a href="https://snapshot.parabon-nanolabs.com">Parabon NanoLabs</a>, claims to be able to accurately predict the physical appearance of an unknown person from DNA. Police forces already use their services, including the Queensland police in a recent case of a <a href="https://www.smh.com.au/national/drawing-an-offenders-face-from-a-drop-of-blood-20161118-gss377.html">serial rapist on the Gold Coast</a>. </p>
<p>The Parabon system is also based on a predictive model. This was developed by applying machine learning tools to their genetic/trait reference database. The company predicts skin colour, eye colour, hair colour, freckles, ancestry, and face shape from a DNA sample. These predictions, the confidence around them, and a reconstruction made by a forensic artist are used to make a “Snapshot” profile.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/new-cryptocurrencies-could-let-you-control-and-sell-access-to-your-dna-data-89499">New cryptocurrencies could let you control and sell access to your DNA data</a>
</strong>
</em>
</p>
<hr>
<p>There is <a href="https://www.nytimes.com/2017/10/19/nyregion/dna-phenotyping-new-york-police.html">scepticism</a> about the capabilities of Parabon. It is difficult to assess Parabon’s system because the computer code is not open, and the methodology has not been published with peer-review scrutiny. </p>
<p>As with any type of DNA evidence, there is a risk of miscarriages of justice, especially if the evidence is used in isolation. The utility of DNA phenotyping at this point may be more in its exclusionary power than its predictive power. Parabon does state that Snapshot predictions are intended to be used in conjunction with other investigative information to narrow the list of possible suspects.</p>
<h2>Where will this all end up?</h2>
<p>We only need to look at identical twins to see how much of our face is in our DNA. The question is how many of the connections between DNA and our physical features will we be able to unlock in the future, and how long will it take us to get there? </p>
<p>Some features are relatively easy to predict. For instance, eye colour can be inferred from relatively few genetic variants. Other traits will be more complicated because they are “polygenic”, meaning that many gene variants work together to produce the feature. </p>
<p>A recent <a href="https://www.theguardian.com/science/2018/apr/16/scientists-discover-dozens-of-new-genes-for-hair-colour">study of hair colour genetics</a>, for example, examined 300,000 people with European ancestry. They found 110 new genetic markers linked to hair colour, but the prediction of some colours (black or red) is more reliable than others (blonde and brown).</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=496&fit=crop&dpr=1 600w, https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=496&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=496&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=623&fit=crop&dpr=1 754w, https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=623&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/215793/original/file-20180421-75104-dcmz6p.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=623&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">Twins can show us how much of our face is in our DNA.</span>
<span class="attribution"><span class="source">Clard/Pixabay</span></span>
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<p>The way that DNA codes our physical features might be different in people from different ancestral groups. Currently, our ability to predict modern Europeans will be better than other groups – because our genetic databases are <a href="https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759">dominated</a> by subjects with European ancestry.</p>
<p>As we employ increasingly sophisticated machine learning approaches on bigger (and more ethnically representative) databases, our ability to predict appearance from DNA is likely to improve dramatically. </p>
<p>Parabon’s services come with a disclaimer that the reconstructions should not be used with facial recognition systems. The integration of these technologies is not impossible in the future, however, and raises questions about scope creep. </p>
<h2>What does this mean for genetic privacy?</h2>
<p>Despite the controversy around what we can do now, the science of DNA phenotyping is only going to get better. </p>
<p>What the rapidly developing field of DNA phenotyping shows us is how much personal information is in our genetic data. If you can reconstruct a mugshot from genetic data, then removing the owner’s name won’t prevent re-identification. </p>
<p>Protecting the privacy of our genetic data in the future may mean that we have to come up with innovative ways of masking it – for example <a href="http://science.sciencemag.org/content/357/6352/692">genome cloaking</a>, <a href="https://www.nature.com/news/spiking-genomic-databases-with-misinformation-could-protect-patient-privacy-1.20407">genome spiking</a>, or encryption and <a href="https://theconversation.com/new-cryptocurrencies-could-let-you-control-and-sell-access-to-your-dna-data-89499">blockchain-based platforms</a>. </p>
<p>The more we understand about our genetic code the more difficult it will become to protect the privacy of our genetic data.</p><img src="https://counter.theconversation.com/content/94740/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>Our ability to reconstruct physical features from DNA is advancing, but can we ensure the privacy of “anonymised” genetic data if we can predict the face of its owner?Caitlin Curtis, Research fellow, Centre for Policy Futures (Genomics), The University of QueenslandJames Hereward, Research fellow, The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/895752018-01-05T10:47:30Z2018-01-05T10:47:30ZEthics for healthcare data is obsessed with risk – not public benefits<figure><img src="https://images.theconversation.com/files/200686/original/file-20180103-26154-kbjcp1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption"></span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/333552785?src=70xpPRUOs8b7-sCx0y2WwQ-1-11&size=huge_jpg">Shutterstock</a></span></figcaption></figure><p>How many times a year do we tick a website or phone app’s box saying “read and approved” – without having read the Terms of Service at all? While a user’s tick of the box is sufficient to allow businesses offering web services and smartphone apps to use “anonymised” customer data for their own purposes, the same doesn’t apply to most health research.</p>
<p>Consider the difference between creating that tick-box by cutting and pasting a standard legal disclaimer and writing a 40-page research ethics submission that rigorously undergoes a dozen revisions. Ethics has a bad image among many scientists and, for some, it raises images of finger wagging and obstacles to research projects.</p>
<p>Health researchers working with human participants – or their identifiable information – need to jump through lots of ethical and bureaucratic hoops. The underlying rationale is that health research poses particularly high risks to people, and that these risks need to be minimised. But does the same rationale apply to <a href="http://journals.sagepub.com/doi/abs/10.1177/2053951716650211">non-invasive research</a> using digital health data? Setting aside physically invasive research, which absolutely should maintain the most stringent of safeguards, is data-based health research really riskier than other research that analyses people’s information? </p>
<p>Many corporations can use data from their customers for a wide range of purposes without needing research ethics approval, because their users have already “agreed” to this (by ticking a box), or the activity itself isn’t qualified as health research. But is the assumptions that it is less risky justified?</p>
<p>Facebook and Google hold voluminous and fine-grained datasets on people. They analyse pictures and text posted by users. But they also study behavioural information, such as whether or not users “like” something or support political causes. They do this to profile users and discern new patterns connecting previously unconnected traits and behaviours. These findings are used for marketing; but they <a href="https://dl.acm.org/citation.cfm?id=2675290">also contribute to knowledge about human behaviour</a>. </p>
<h2>Unintended consequences</h2>
<p>One of us recently applied to use individual-level data that had been collected by a personalised health company, where paying consumers had consented online for their information to be used for research (without any requirement for research ethics approvals). But in order to use exactly the same anonymised data, academic health researchers had to apply for ethical approval first. It was a process which took six months’ of paperwork. Despite all the time and effort it took to obtain this, the approval was never used, as there was an extremely costly stipulation that participants had to reconsent. </p>
<p>Another example involved a UK national bioresource of 100,000 blood samples collected for NHS research, where the name and purpose was slightly changed to a biobank. The research ethics committee decided that every participant had to provide their consent again, or else their DNA and blood samples couldn’t be used. In addition to the cost to the taxpayer, it’s expected that the decision will result in the destruction of about 30,000 samples – some from a tiny number who wouldn’t want their samples to be used, but the vast majority from people who couldn’t care less. </p>
<p>Many people are happy for their data and samples to be used for health research – if it creates <a href="http://www.bionews.org.uk/page_641989.asp">public benefits</a>, according to <a href="https://www.ipsos.com/ipsos-mori/en-uk/commercial-access-health-data">empirical research</a>. How many of those people who failed to reconsent would have agreed to the destruction of their samples? And in whose interest is this?</p>
<p>The institutionalisation of medical and research ethics has created a plethora of bodies and local governance groups, with increasingly onerous conditions required for research involving human participants or access to potenitally identifiable personal information. Many jurisdictions, such as the US, understand research as systematic investigations designed to contribute to “<a href="https://www.hhs.gov/ohrp/regulations-and-policy/decision-trees-text-version/index.html">generalisable knowledge</a>”. </p>
<h2>Power imbalance</h2>
<p>This means that most socially valuable health research carried out at universities and reputable institutions requires research ethics approvals, which is a significant obstacle. But corporations don’t face the same scrutiny; ironically because they’re not seeking to spread knowledge.</p>
<p>The EU’s <a href="https://www.eugdpr.org">General Data Protection Regulation</a>, which comes fully into effect in May, will make some improvements by giving citizens more control over the use of their data – but it will not really change this imbalance. </p>
<p>In the UK, <a href="https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/535024/data-security-review.PDF">the 2016 Data Security Review by Dame Fiona Caldicott</a>, the National Data Guardian for Health and Care, made a number of very important suggestions to improve data security, increase people’s support for valuable health research and give patients more meaningful control over their data. Last year, the government <a href="https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/668729/NDG_Progress_Report_FINAL_v1.1.pdf">approved all of the recommendations</a>. It’s a step in the right direction, but it fails to address key structural problems that health research faces in the digital era.</p>
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<p>Research ethics committees have been key to protecting patients from greedy drug companies and invasive experimental research. But obstructing publicly valuable research or destroying samples was never part of their mission. Ethicists aren’t to blame. As a society, we have allowed the idea of risk management to take on a life on its own. Rather than us managing risk, risk is now managing us- and a state of what we call “uber-ethics” has emerged. And, what’s worse, the current frameworks for research ethics are unable to deal with one of the biggest ethical challenges in the era of digital health: the <a href="https://nyupress.org/books/9781479814589/">power inequalities</a> between the corporations that use data, and those whose data are used – patients and citizens. </p>
<p>To address the <a href="https://lpeblog.org/2017/12/06/from-territorial-to-functional-sovereignty-the-case-of-amazon/">quasi monopolistic status of commercial corporations using personal data</a>, ethics is more important than ever. But ethics must become political again – a project that supports all of us in systematically considering how specific policies, institutions, technologies and practices impact on the distribution of burdens and benefits within and across societies.</p>
<p>How do we get there? For academics, reminding research ethics committees of the importance of facilitating socially valuable research would help. But we also need policy changes to prioritise public benefits, especially where there is minimal risk. Regulators should pay more attention to whether or not data use has value for societies. If yes, it should receive public support and be freed from many of the onerous bureaucratic requirements that are in place. Research that does not have societal value besides lining the pockets of shareholders should be allowed to proceed, but with stricter safeguards. In addition, mechanisms must be put in place to ensure that some of the profits made with people’s data come back into the public domain.</p><img src="https://counter.theconversation.com/content/89575/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Tim Spector receives funding from the Wellcome Trust, MRC, European Commision, NHS NIHR. He receives royalties from writing science books. The views expressed are his own and not of any institution.</span></em></p><p class="fine-print"><em><span>Barbara Prainsack receives funding from the European Commission's Horizon2020 research programme and from the Wellcome Trust. She is a member of the European Group on Ethics in Science and New Technologies, and of the Austrian National Bioethics Commission. She writes here in a purely personal capacity.</span></em></p>Data ethics should pay much more attention to the social value of researchTim Spector, Professor of Genetic Epidemiology, King's College LondonBarbara Prainsack, Professor of Political Science, Universität WienLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/881982017-12-10T23:05:02Z2017-12-10T23:05:02ZYou’ve got your DNA kit: Now what can you do with it?<figure><img src="https://images.theconversation.com/files/198431/original/file-20171210-27674-unj6wl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A scientist works with DNA samples in a New Orleans laboratory in 2011.</span> <span class="attribution"><span class="source"> (AP Photo/Gerald Herbert)</span></span></figcaption></figure><p>Differences among people, such as eye colour or hair colour, come from slight variations in our genetic code. As technology advances, it’s getting easier to unlock the secrets in our DNA to gain new insights into who we are and to apply that knowledge to dramatically change our lives and society.</p>
<p>This has led many to get personal reports on their own genetic code in exchange for payment and saliva samples. Excitement over these reports recently jumped after <a href="http://www.oprah.com/gift/oprahs-favorite-things-2017-full-list-dna-test-ancestry-personal-genetic-service?editors_pick_id=71355">Oprah Winfrey recommended the DNA test by 23andMe on her annual favourite things list</a>.</p>
<p>But the applications of making DNA information more accessible stretch far beyond satisfying our curiosity about who we are and what our genes might say about us. </p>
<p>The availability of genetic data can potentially be tapped to treat medical conditions, leading to personalized health care and wellness regimens, with larger implications for personal, cultural, social and economic change. For example, companies such as Newtopia provide customers with <a href="http://www.goodhousekeeping.com/institute/a23581/newtopia-a-diet-based-on-your-dna/">weight-loss plans that are tailored to one’s own DNA</a>.</p>
<p>As researchers trained in economics, we study the impact of how genetic and environmental factors influence the development of human capital measures such as education and health. As we learn more about our DNA, the possibilities that arise for policy and the economy as a whole are as numerous as our individual genomes are varied. </p>
<h2>DNA data can pose public risk</h2>
<p>Beyond private companies, the rapidly declining costs of both gene-sequencing and the technology to store genomic data has the potential to soon transform health-care delivery and policy. </p>
<p><a href="https://wol.iza.org/articles/what-is-the-role-for-molecular-genetic-data-in-public-policy/long">Our recent research considers the potential value from incorporating genetic data in the design of public policy</a> and <a href="https://link.springer.com/epdf/10.1186/s40173-017-0080-6?author_access_token=tokabk3A5sGAY9DDBwhlcW_BpE1tBhCbnbw3BuzI2RPxRCGr4ipav-alb6J3IvVA4EO0ta2k5g7yH1LrAwVB8rGq4ZAzBAu2B3WRSAmD5FG5bfMZsrSFzsV5pE6ZvgEdT4-nvwMYMHxmgD48yrHGTA==">social science research</a>, as well as the risks. </p>
<p>Decisions about genetic policies involve complex issues about ethics, costs, benefits and individual and societal interests. </p>
<p>Legislation is needed to prevent insurance companies and employers from using the results from genetic tests when making decisions. Canada was the last member of the G7 to introduce protections with the <a href="http://www.parl.ca/DocumentViewer/en/42-1/bill/S-201/royal-assent">Act to Prohibit and Prevent Genetic Discrimination</a> (formerly Bill S-201) this year — nine years after the United States passed similar legislation.</p>
<p>Since genetic factors may explain individual differences in socioeconomic outcomes, a growing number of social science data sets now involve biological-specimen collection activities that permit measuring genetic factors. Analyses of this data can extend and expand our knowledge on virtually every health condition — and on socioeconomic traits that have a genetic basis.</p>
<h2>Environment also plays a role</h2>
<p>However, genetic factors are only part of the story and other variables that are well-studied by social scientists —such as environment and lifestyle — also come into play. For example, an emerging body of evidence now indicates that genetic associations with <a href="http://www.pnas.org/content/112/2/354">obesity may vary due to different prevailing environmental factors</a> like occupation and even urban design.</p>
<p>These differences in environments, lifestyles and genetic factors have important implications in areas ranging from health behaviours such as obesity and cigarette smoking to skill development and other socio-economic outcomes. Therefore the idea of a one-size-fits-all policy for any health, education or socioeconomic outcome is flawed. </p>
<p>Adopting one-size-fits-all policies assume that the same process can produce a health or socioeconomic outcome for all individuals. However, if and how substantial genetic variations change the way these outcomes develop, opportunities emerge to create more effective treatments and policies.</p>
<p>Within the health-care realm, understanding the genetic basis of specific medical conditions is valuable since it offers the potential to improve treatment decisions.</p>
<p>With this new knowledge, we could replace current health and medical practices and develop new ones to target personalized policies and treatments more efficiently for different individuals.</p>
<h2>Heredity expands impact</h2>
<p>The intersection of genetics and public policy stretches beyond the health-care sector. <a href="http://psych.colorado.edu/%7Ecarey/hgss/hgssapplets/heritability/heritability.intro.html">Heritability</a> plays a role in nearly every socio-economic and education outcome. Heredity ensures policies that consider the role of genetics will have immediate and long-term implications.</p>
<p>The quality of evidence on the role of genetic factors on socioeconomic traits has increased sharply over the last decade.</p>
<p>With newer molecular DNA data available to empirical researchers, the flood of research findings linking specific genetic factors with individual health and socioeconomic outcomes will only continue to grow. </p>
<p>Yet it remains essential to ensure that these findings are interpreted correctly. Much of the evidence reflects only simple associations between individual genetic factors and socioeconomic outcomes — not causal relationships. And the impact of most genetic factors are often very small in magnitude.</p>
<h2>Small effects, big outcomes</h2>
<p>Nonetheless, there is often value from these findings. For example, <a href="http://brcatool.stanford.edu/">a calculator developed by the Stanford Cancer Institute</a> provides individuals with information on how their chances of survival change in response to different preventive measures taken at different ages.</p>
<p>The calculation is based on several specific differences in genetic markers, and helps educate individuals on the trade-offs they face when choosing among possible treatments.</p>
<p>More generally, the speed at which molecular genetic data can be effectively integrated within policy design is directly tied to improving our understanding how genetic markers operate. </p>
<p>For example, if genetic screening can reliably predict complex learning disorders, the advantages would be huge. Even if a disorder is a function of many genes — each with very small effects — researchers can calculate a single aggregate summary score.</p>
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<img alt="" src="https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/198433/original/file-20171210-27686-jmn12s.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">Using genetic testing to determine your child has a learning disorder could help parents make the right decisions for their children.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
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<p>The summary score would measure an individual’s risk for a specific disorder or trait, which, in many situations, may take psychologists years to diagnose.</p>
<p>Armed with knowledge of whether their child is at an elevated risk for a learning disorder or other conditions, for example, parents will be able to make different investments in their child years before receiving a formal diagnosis. </p>
<h2>Change the conversation fast</h2>
<p>These investments may additionally affect how the underlying genes manifest themselves and therefore reduce the risk for future poor outcomes. As knowledge advances, the predictive accuracy of these summary scores will increase.</p>
<p>All of this reinforces the need for policies that consider not only the benefits, but the potential costs, of this newly available genetic data source. </p>
<p>Whether Canadians will fully realize the significant potential benefits from incorporating genetic data in health and social policy design will depend on how fast policies that ensure appropriate safeguards are developed.</p>
<p>If Canada hopes to capitalize on the great potential of DNA data to improve the lives of Canadians, policymakers and stakeholders must determine how to maximize the benefits while minimizing the harm.</p>
<p>Just as it should have regarding the genetic discrimination law, Canada must take quicker action in the future to ensure its citizens benefit from the explosion of DNA data.</p><img src="https://counter.theconversation.com/content/88198/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Steven Lehrer receives funding from SSHRC. </span></em></p><p class="fine-print"><em><span>Weili Ding does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>The rapid growth of genetic testing and data-gathering could revolutionize health and medicine if governments work to protect people against privacy and societal risks.Steven Lehrer, Associate Professor of Economics, Queen's University, OntarioWeili Ding, Associate professor, Queen's University, OntarioLicensed as Creative Commons – attribution, no derivatives.