tag:theconversation.com,2011:/uk/topics/genetic-screening-929/articlesGenetic screening – The Conversation2019-09-08T19:59:31Ztag:theconversation.com,2011:article/1227812019-09-08T19:59:31Z2019-09-08T19:59:31ZWill the genetic screening of athletes change sport as we know it?<p>Since the first mapping of the human genome there has been interest in understanding which genetic factors underpin performance in sport. </p>
<p>With the rise of genetic testing among athletes, it remains to be seen exactly how the world of elite sport will be affected. </p>
<p>Last year the Chinese Ministry of Science and Technology <a href="https://www.newsweek.com/china-begin-using-genetic-testing-select-olympic-athletes-1099058">revealed</a> China will use genetic testing on its athletes ahead of the 2022 Winter Olympics, incorporating it into the official athlete selection process. </p>
<p>Concerns are mounting as the falling cost of genetic testing lead to worldwide interest in commercialising it. This is resulting in more <a href="http://pilarmartinescudero.es/2017%20en-mar/Genetic%20testing%20for%20sport%20perfomance.%20Practical%20and%20ethical%20considerations.pdf">direct-to-consumer</a> tests being offered, without input from medical practitioners or genetic counselling. </p>
<p>Critics of these services worry about the quality controls of the genetic analyses and interpretation of results. They argue the services could lead to significant misinformation which could negatively impact an athlete’s sporting future. </p>
<h2>A specialised approach</h2>
<p>Two <a href="https://journals.lww.com/mejmedgen/Fulltext/2012/07000/Genetic_polymorphism_studies_in_humans.1.aspx">gene variants</a> are commonly linked with sports performance. These are ACE II (associated with endurance athletes) and ACTN3 RR (associated with sprinters and power athletes). </p>
<p>While there is strong evidence these genes are related to sports performance, there’s little evidence that an individual’s sporting performance capacity can be <a href="https://theconversation.com/born-to-win-top-athletes-dont-share-a-single-talent-gene-but-hundreds-of-them-43816">predicted</a> based on genes.</p>
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<p>This is because sport is complex and very few sports are classified as solely a sprint, power or endurance sport. Also, many factors underpin athletic success including a broader variety of genetic traits and physical, environmental and psychological elements. All of these work in concert to impact overall performance. </p>
<p>That said, a knowledge of genetic predispositions is a potentially <a href="https://bjsm.bmj.com/content/bjsports/53/18/1141.full.pdf">valuable tool</a> for understanding individual responses to exercise training. </p>
<p>It’s possible understanding the relationships between genes and individual training responses can be used to better <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207597">individualise athlete training programs</a>. </p>
<p>A <a href="https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207597">paper published this year</a> reported those with particular gene variants linked to aerobic training adaptations showed greater training responsiveness after eight weeks of targeted training. </p>
<p>Therefore, genetic testing could potentially be used to personalise an athlete’s training program and improve the efficiency and results of training processes. </p>
<h2>The ethical considerations</h2>
<p>The debate over whether genetic testing of athletes actually works has been around for some time, especially regarding recruitment and selection programs. </p>
<p>Many are worried its use to determine sporting potential will pose a significant challenge to the <a href="https://www.olympic.org/the-ioc/promote-olympism">spirit of the Olympics</a> and similar contests.</p>
<p>In 2015 researchers examined the available literature on direct-to-consumer genetic testing for sports performance and talent identification, and published a <a href="https://bjsm.bmj.com/content/49/23/1486.long">consensus statement</a>. This was followed by the Australian Institute of Sport’s <a href="https://bjsm.bmj.com/content/51/1/5.long">2016 Position Stand</a>.</p>
<p>In these documents, genetics experts suggest no child or young athlete should have their training altered or be talent-spotted based on direct-to-consumer genetic testing. This is due to concerns around a lack of evidence-based interpretation of results, which may give aspiring athletes incorrect advice about their suitability for a sport. </p>
<p>Because of the complex nature of sports performance, the authors of the AIS Position Stand suggest genetic testing should never be used for inclusion or exclusion in a talent-identification program. They say the “use of genetic phenotypes as an absolute predictor of athletic prowess or sport selection is unscientific and unethical”.</p>
<p>In 2003 the Australian Law Reform Commission and National Health and Medical Research Council <a href="https://www.alrc.gov.au/publication/essentially-yours-the-protection-of-human-genetic-information-in-australia-alrc-report-96/executive-summary-2/">recommended</a> discrimination laws be amended to make it illegal to discriminate on a person’s real or perceived genetic status. </p>
<p>The fact is, there is great potential for genetic testing to result in discrimination.</p>
<h2>Keeping up with the inevitable</h2>
<p>A <a href="https://www.termedia.pl/The-current-use-and-opinions-of-elite-athletes-and-support-staff-in-relation-to-genetic-testing-in-elite-sport-within-the-UK,78,30816,0,1.html">study</a> published last year examining elite sport in the United Kingdom found that most athletes and support staff surveyed weren’t aware of genetic testing for sport performance (92%) or injury risk assessment (91%). </p>
<p>When sport support staff were asked if they would consider genetic testing of their athletes, most were interested in the relationship between genetics and performance (61%) and injury susceptibility (78%). When asked whether testing should be used as a talent-identification tool, 51% of support staff were less willing to consider it. </p>
<p>Nonetheless, several nations are turning to genetic testing to determine athletic potential. In 2014 it was revealed <a href="https://www.theatlantic.com/international/archive/2014/02/uzbekistan-is-using-genetic-testing-to-find-future-olympians/283001/">Uzbekistan is also using genetic testing</a> as a tool for finding future Olympians. </p>
<p>There are concerns more countries will follow suit and this could lead Olympic sport down a slippery slope, or even encourage <a href="https://www.businessinsider.com.au/wada-test-rio-olympic-athletes-gene-doping-2016-8">gene doping</a> programs.</p>
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Read more:
<a href="https://theconversation.com/explainer-what-is-gene-doping-and-will-any-athletes-at-rio-2016-have-tried-it-63230">Explainer: what is gene doping – and will any athletes at Rio 2016 have tried it?</a>
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<p>To ensure a future in which we harness genetic testing while not compromising on fairness in sport, we must further research the benefits of knowing how genetics relate to human performance and injury risk. And we should apply this knowledge to enhance training processes. </p>
<p>The future should’t be in excluding individuals from sport but in finding ways to use genetics to precisely prescribe athletes’ training programs. This will help them chase their unique sporting dreams while remaining true to the Olympic spirit.</p><img src="https://counter.theconversation.com/content/122781/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>G. Gregory Haff does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Genetic testing could help us build targeted and effective training routines for athletes, but the emerging science could also introduce opportunity for discrimination in the sporting world.G. Gregory Haff, Professor of Strength and Conditioning, Edith Cowan UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1096472019-02-08T11:31:25Z2019-02-08T11:31:25ZHow your genes could affect the quality of your marriage<figure><img src="https://images.theconversation.com/files/255435/original/file-20190124-196250-8ec1z5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Does a good marriage depend on having the right genes?
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/couple-sitting-outdoors-champagne-flutes-scenic-125067149?src=vCL3jOJJUTcsNekfwYfUFw-1-13">Tiffany Bryant/Shutterstock.com</a></span></figcaption></figure><p>How important is it to consider a romantic partner’s genetic profile before getting married? </p>
<p>It is logical to think that genetic factors may underlie many <a href="http://doi.org/10.1016/j.biopsych.2007.04.006">traits already used by matching sites</a> - like personality and <a href="https://doi.org/10.1177/1754073911421379">empathy</a> - which many assume could promote initial chemistry and long-term potential in specific couples. So it is perhaps not surprising that there are now websites that combine genetic testing and matchmaking. </p>
<p>But does matching intimate partners on the basis of specific genes have any scientific foundation? Studies have shown that genetically identical twins, raised separately, rate the overall quality of their marriages similarly, suggesting some enduring <a href="http://dx.doi.org/10.1037/0893-3200.18.1.107">genetic contribution to marital life</a>. However, the specific genes that are relevant to marriage, and why, remain a mystery. </p>
<p>As such, predicting marital compatibility on the basis of specific combinations of genetic profiles rests on tenuous scientific footing. Currently, researchers are just beginning to identify the genes that may be associated with marital bliss and through what processes. </p>
<h2>Why study the effects of genes on marriage?</h2>
<p>As a <a href="https://scholar.google.com/citations?hl=en&user=S1sMgBEAAAAJ&view_op=list_works&gmla=AJsN-F77stmAUmgQmt-4s2pnaWMg_dTe3Fm1XViucVibQwaVX_b-Xyvqva9CRxaJBXr1mhUjvv5LZdtnEa_pF9KaqC3PfLsEFC7WN3SMR2S0k1wHB68yFNs">scientist and clinical psychologist</a>, I have a longstanding interest in <a href="http://dx.doi.org/10.4135/9781412958479.n413">identifying the factors that contribute to a happy marriage</a>, such as <a href="https://doi.org/10.1111/j.1475-6811.2010.01315.x">how couples manage conflict</a>. My interest in exploring genetic determinants, however, developed more recently. </p>
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<img alt="" src="https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=800&fit=crop&dpr=1 600w, https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=800&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=800&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1006&fit=crop&dpr=1 754w, https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1006&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/256173/original/file-20190129-108364-1ut5t1c.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1006&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">Are you and your partner the ideal genetic match?</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-vector/dna-strand-shape-heart-140379022?src=RkgeeM6EfFrvZxmsy3O5Hg-1-1">VectorFrenzy/SHutterstock.com</a></span>
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<p>Genes are segments of DNA that encode a particular trait. A gene can take on various forms called alleles, and the combination of the two alleles inherited from both parents represent one’s genotype. Differences in genotype correspond to observable differences within that trait across individuals. </p>
<p>Though genes underlie individual differences in a broad range of characteristics believed to be relevant to marriage, I am specifically interested in the oxytocin receptor (OXTR) gene. Oxytocin, sometimes referred to as the “love” hormone, appears to play a significant role in emotional attachment. For example, oxytocin floods a new mother at the birth of a child and it spikes during sex. Therefore, I reasoned that the gene that regulates oxytocin, OXTR, might be a good one to study in the context of marriage, as it is frequently implicated in how we become attached to other humans. Moreover, OXTR has been associated with a range of phenomena linked to <a href="http://doi.org/10.3389/fnhum.2012.00004">human social behavior, including trust</a> and <a href="http://doi.org/10.1073/pnas.1003296107">sociability</a>. </p>
<p>Of greatest interest to me is that the OXTR gene has been linked with physiological <a href="http://dx.doi.org/10.1016/j.biopsycho.2016.02.007">responses to social support</a> and traits believed to be <a href="http://dx.doi.org/10.1111/jopy.12152">critical to support processes</a>, like empathy. Considered alongside findings that the quality of social support is a <a href="http://dx.doi.org/10.1037/a0017578">major determinant of overall marital quality</a>, the evidence implied that variations on the OXTR gene could be tethered to later marital quality by influencing how partners support each other. To test this hypothesis, I pulled together a multidisciplinary team of scientists including <a href="https://www.stonybrook.edu/commcms/psychology/faculty/faculty_profiles/jdavila">psychologists with</a> additional expertise in marital research, <a href="http://www.upstate.edu/search/?tab=people&ID=middletf">a geneticist</a> and a <a href="https://www.binghamton.edu/psychology/people/profile.html?id=ncameron-BD02A8667FFAC2FAAA78B6835C6CC314">neuroendocrinologist</a> specializing in oxytocin. </p>
<p>Together our team recruited 79 different-sex married couples to participate in our study. We then asked each partner to identify an important personal problem – unrelated to the marriage – to discuss with their spouse for 10 minutes. </p>
<p>These discussions were recorded and later coded according to how each partner solicited and provided “positive” support by scoring elements like problem-solving and active listening. Couples responded separately to several questionnaires including a measure of perceived quality of the support they received during the interaction. Each person also provided saliva samples that our team analyzed to determine which two alleles of the OXTR gene each person carried. </p>
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<img alt="" src="https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/256436/original/file-20190130-108351-ljb0wz.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">His genes may prevent him from perceiving his wife’s support. This lack of understanding could make their marriage more rocky.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/abused-angry-elderly-man-eyewear-stands-793122112?src=HszbILTrl9TJiNsMvbEV3w-1-49">WAYHOME studio/Shutterstock.com</a></span>
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<h2>Genetic variation and marital quality</h2>
<p>Based on prior evidence, we focused our attention on two specific locations on the OXTR gene: <a href="https://www.snpedia.com/index.php/Rs1042778">rs1042778</a> and <a href="https://www.snpedia.com/index.php/Rs4686302">rs4686302</a>. As expected, higher quality social support was associated with marital quality. Also, genetic variation at each OXTR site for both husbands and wives was linked with how partners behaved during the support discussions. </p>
<p>However, individuals did not appear more or less satisfied with the support they received based on differences in the positive skills their partners used during the interaction. </p>
<p>Rather, we found that husbands with two copies of the T allele at a specific location on OXTR (rs1042778) perceived that their partners provided lower quality support. This was regardless of whether his partner’s support skills were strong or weak. </p>
<p>To us, this implied that husbands with the TT genotype had greater difficulty interpreting their respective wife’s behavior as supportive. This is consistent with other findings implicating this same genotype <a href="http://dx.doi.org/10.1016/j.jad.2012.01.009">in social-cognitive deficits</a>, <a href="http://dx.doi.org/10.1007/s11689-010-9071-2">as well as autism</a>. </p>
<p>Notably, the husband and wife in couples also reported being less satisfied with their marriage overall, when compared to those with different combinations of alleles. This suggests that couples in which the husband carries two copies of the T allele were worse off, in part, because these men had trouble perceiving their wife’s behavior as supportive – a notion that our statistical analysis ultimately supported. </p>
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<img alt="" src="https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=632&fit=crop&dpr=1 600w, https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=632&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=632&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=794&fit=crop&dpr=1 754w, https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=794&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/256174/original/file-20190129-108364-cxuqmh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=794&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">Are there genes that raise the odds for a bad marriage?</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/risk-word-3d-letters-within-dna-243658768?src=c94fVb_vY4knb-OwBoNing-6-1">iQoncept</a></span>
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<h2>Practical implications</h2>
<p>Do we have the evidence necessary to start screening potential husbands for specific combinations of genes that seem harmful to marriage? </p>
<p>I would not recommend doing so for a few reasons. Foremost is that genes can influence a broad range of characteristics, which may be detrimental to a marriage in some respects but beneficial in others. Although we found that having two copies of the T allele seems to be a liability in the context of social support, exploratory analyses revealed that this combination appeared to also confer some positive influence on the marriage. The exact mechanism remains unclear, but we speculate that being less sensitive to social nuance may be protective in other areas of marriage by, for example, blunting hostile exchanges during disagreements. </p>
<p>More to the point, assuming that a single gene can make or break a marriage underestimates the complexity of genetics and marriage. It is possible that certain genes may be more or less detrimental depending on the rest of a partner’s genetic profile. However, there is currently no published data on which to rest any type of proposed match. So, ruling out prospective husbands on the basis of variations within or across genes doesn’t make much sense. </p>
<p>Nevertheless, there are still practical implications to our current findings. Researchers have shown that social support from intimate partners can buffer the <a href="http://dx.doi.org/10.1523/JNEUROSCI.5538-09.2010">deleterious effects of stress on mental</a> and physical health.
To the extent that particular genotypes impair an individual’s ability to feel supported, that person may be more susceptible to the effects of stress. Thus, screening men for the TT genotype on OXTR could assist in identifying those at risk for stress-related problems. In addition, future research may highlight how to tailor the delivery of social support in ways that can benefit these individuals. </p>
<p>There are also several <a href="http://dx.doi.org/10.1037/a0026067">other potentially relevant locations on OXTR</a>, as well as other genes that may be relevant to relationships. Our study provides a template for approaching the study of marital genetics.</p><img src="https://counter.theconversation.com/content/109647/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Richard Mattson received funding from SUNY Collaborative Fund to conduct this reesarch. </span></em></p>Will your marriage be better if you and your partner are genetically compatible? Is there any evidence that certain genes make someone a better or worse partner? And if so, which genes should we test?Richard Mattson, Associate Professor & Director of Graduate Studies in Psychology, Binghamton University, State University of New YorkLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/882952018-01-03T23:47:42Z2018-01-03T23:47:42ZMade health resolutions for 2020? You might not be living a free life<figure><img src="https://images.theconversation.com/files/308019/original/file-20191219-11919-nuvuib.jpg?ixlib=rb-1.1.0&rect=31%2C43%2C4128%2C2638&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Modern citizenship in the West increasingly involves a duty to care for ourselves — to eat healthily, exercise enough and even screen ourselves for disease — to minimize our health-care costs to the state.</span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>“I really should be taking better care of myself.” </p>
<p>Who hasn’t thought that at least once in the past year? And maybe you’ve made a few health resolutions for 2020 — to cut back on the junk food, up the daily exercise, start meditating or get more sleep? </p>
<p>In 2014, the <a href="https://www150.statcan.gc.ca/n1/daily-quotidien/150617/dq150617b-eng.htm">Canadian Community Health Survey (CCHS)</a> found that 72 per cent of respondents thought they should do something to live more healthily — an increase of 13.9 per cent since 2001. </p>
<p>Seventy-seven per cent planned to actually do something to improve their health, such as reducing stress, changing their eating habits or getting more sleep and exercise — another increase of 9.5 per cent since 2001. And 59 per cent had already made some improvements.</p>
<p>It’s clear from these statistics that “<a href="https://doi.org/10.2190/3H2H-3XJN-3KAY-G9NY">healthism — an elevated consciousness about health, lifestyle and related practices of risk and disease prevention</a>” — is on the rise.</p>
<p>On the surface, this might seem like a positive cultural development. Who can argue with trying to be healthy? But healthism has another side — a tendency to locate responsibility for health and well-being squarely on the shoulders of individuals. </p>
<p>Or, to put it another way, it lets the state off the hook for looking after its citizenry. (Remember the good old days, when Ottawa used to pay 50 per cent of the provinces’ expenditures on health care?) </p>
<h2>Health is now a moral duty</h2>
<p>The fact is, we’ve progressively been “responsibilized” in recent decades to look after ourselves, with less and less support from our provincial and federal governments. The pursuit of “wellness” has become a kind of <a href="http://www.mqup.ca/neoliberal-governance-and-health-products-9780773547834.php">moral imperative that cannot be separated from the state’s broader political and economic objectives</a>. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=405&fit=crop&dpr=1 600w, https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=405&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=405&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=509&fit=crop&dpr=1 754w, https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=509&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/200618/original/file-20180102-26151-68h1o8.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=509&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Is your choice to get more hours of sleep really a moral imperative?</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
</figcaption>
</figure>
<p>As Canadians, we enjoy the benefits of a socialized health-care system, but even so, this imperative of individual responsibility to the rest of Canadian society consistently figures in, say, health promotion and popular lifestyle rhetoric. </p>
<p>For example, <a href="http://www.canadianliving.com/health/prevention-and-recovery/article/struggle-with-these-7-bad-habits-there-s-an-easy-fix">a health column</a> in a Canadian women’s magazine declared it possible to “retrain your brain,” claiming that unhealthy habits can be fixed simply by “changing your perspective.” </p>
<p>If your bad habit is that you “often put off exercise,” you just need to “choose more positive online influences.” If your bad habit is an inability to stick to healthy eating goals, then you just need to “predict your feelings about food” before you begin eating. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/200515/original/file-20180102-26145-1qpic6f.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">Are you responsible for training your brain to resist the sugar cravings while that brain is bombarded with junk food advertisements?</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
</figcaption>
</figure>
<p>Exhorting individual readers to become entrepreneurial self-managers and take responsibility for their well-being, this magazine column goes on to list a series of other personal weaknesses and their quick fixes, all of which boil down to the reader’s good and bad choices and their ability (read: obligation) to conduct their lives more responsibly for the good of everyone.</p>
<h2>Citizenship is a biological project</h2>
<p>And this is where <a href="https://doi.org/10.1002/9780470696569.ch23">the idea of “biocitizenship”</a> comes in. </p>
<p>Through engaging in practices of self-care — that is, making the “right” kinds of lifestyle and medical choices — modern citizenship in the West has become a kind of biological project. It depends on individuals fulfilling their responsibility to the rest of society by accepting and carrying out the duty to care for themselves. </p>
<p>From relaxing baths to kale smoothies, <a href="http://www.cbc.ca/news/canada/montreal/self-care-montreal-advice-1.4045450">self-care is definitely “on trend.”</a> Increasingly, though, we find ourselves morally and socially obligated to be proactive about our health risks, whether <a href="https://theconversation.com/is-the-food-industry-conspiring-to-make-you-fat-81537">eating right</a>, <a href="https://healthyforgood.heart.org/move-more/articles/no-time-for-exercise-here-are-7-easy-ways-to-move-more">exercising more</a>, <a href="https://www.canada.ca/en/health-canada/services/smoking-tobacco/quit-smoking.html">quitting smoking</a> or even <a href="https://theconversation.com/youve-got-your-dna-kit-now-what-can-you-do-with-it-88198">screening for genetic disease potential</a>. </p>
<p>That moral obligation has even evolved into a kind of entitlement. </p>
<p>In <a href="https://www.upress.umn.edu/book-division/books/testing-fate">my book on the history of Tay-Sachs disease</a>, I show how some parents of children born with this fatal disease have <a href="https://www.npr.org/sections/health-shots/2012/05/15/152687638/should-parents-be-able-to-sue-for-wrongful-birth">sued for “wrongful birth”</a> and “wrongful life.” They claimed their right to be responsible biocitizens — by terminating their pregnancies — was denied when their doctors, genetic counsellors and the like failed to test for Tay-Sachs or did not inform them properly of the results when they did.</p>
<h2>Welcome to your ‘unfreedom’</h2>
<p>The point is that responsible biocitizens engage in self-care for the good of all. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=401&fit=crop&dpr=1 600w, https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=401&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=401&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/200516/original/file-20180102-26166-1qfdzsw.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The individual responsibility for wellness is promoted everywhere from university campuses to workplaces.</span>
<span class="attribution"><span class="source">(Shutterstock)</span></span>
</figcaption>
</figure>
<p>Good biocitizens are healthy citizens who do not use up too many health-care dollars by having costly health problems they could have prevented if only they’d looked after themselves better. </p>
<p>And, as I am finding in some research explorations, this message comes to us from all over — from our workplaces in the form of Employee Assistance Programs, from campus medical services in the form of “wellness promotion” and even from <a href="https://www.cdc.gov/physicalactivity/downloads/mallwalking-guide.pdf">shopping malls</a> in the form of “<a href="https://www.bcrpa.bc.ca/media/25944/bcrpa_walking_resource_guide.pdf">mall walking programs</a>” designed to help people exercise more.</p>
<p>As a fairly recent development since Thatcher and Reagan were in power, the <a href="https://doi.org/10.1177/0896920516655387">neoliberal trend is towards greater privatization, financialization and declining state responsibility for social welfare</a>. As part of this, there has been a <a href="http://www.mqup.ca/neoliberal-governance-and-health-products-9780773547834.php">transformation of “patients” into “consumers”</a> and a shift from “care and social entitlements” to the individual’s “ethical duty” to be well. </p>
<p>All this reflects how individual freedom figures in this context as a kind of “<a href="https://doi.org/10.1080/03085140701254290">unfreedom</a>.” </p>
<p>Unfreedom is the capacity, or even the duty, to act that — given its moral undertones — is not really very free at all. </p>
<p>Don’t get me wrong, I’m not saying we shouldn’t aim for quality of life and try to be as healthy as we can. But choosing quinoa over cannoli is much more than a matter of personal preference. I think it’s important to reflect on our self-care choices in their political, economic and socio-cultural context.</p>
<p>So, will you strive to become a better biocitizen in 2020? Or can you count on your government to do more of what it used to do — and look after you too?</p>
<p>[ <em>You’re smart and curious about the world. So are The Conversation’s authors and editors.</em> <a href="https://theconversation.com/ca/newsletters?utm_source=TCCA&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=youresmart">You can read us daily by subscribing to our newsletter</a>. ]</p><img src="https://counter.theconversation.com/content/88295/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Shelley Z. Reuter has received funding from the Social Sciences and Humanities Research Council and Fonds de recherche: Société et culture. </span></em></p>Are your new diet, exercise, meditation and self-care resolutions for 2020 really a personal choice? Or are you a model western “biocitizen,” living a life of unfreedom?Shelley Z. Reuter, Professor of Sociology, Concordia UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/870832017-11-16T19:10:53Z2017-11-16T19:10:53ZWhat prospective parents need to know about gene tests such as ‘prepair’<figure><img src="https://images.theconversation.com/files/194903/original/file-20171115-19789-17t9dhk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Couples who are carriers of genes for recessive diseases don't show any symptoms.</span> <span class="attribution"><a class="source" href="https://unsplash.com/photos/7tGqLzHcjZ8">Photo by Drew Hays on Unsplash</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>Researchers <a href="http://www.theage.com.au/victoria/most-wouldbe-parents-carrying-severe-genetic-disorders-are-unaware-20171102-gzd9vi.html">recently renewed calls</a> for all prospective parents to be offered testing for gene mutations that could be transferred to their child. This came after a study published in the journal <a href="https://www.nature.com/articles/gim2017134.epdf?referrer_access_token=vUswM29CZMNFQjzlclpL0NRgN0jAjWel9jnR3ZoTv0N5FKXZRBZzyrsg1x6BF7gWGcq5yVwW6B0Wzooc5EJ8jwvZGqeMfDai5LT6rCSx7IvdvZnxf-N9ynrk32fv6HJKo3FAyW2FI-QIvTbeQ4LGYR4_DuoStR47YWScTuzSRV0hsyl2RVimGDZfIS59fKHA7ZCVGkvi8y69kpbBRc13KXarZyJdI8loMbJS0V2j-MbP8JB2cuFZCfUU2hf6BXso9sBbqLbM2T6NhghxXvXV1Q%3D%3D&tracking_referrer=www.abc.net.au">Genetics in Medicine</a> found 88% of couples weren’t aware they were carrying mutations for three serious diseases: cystic fibrosis, spinal muscular atrophy and fragile X syndrome. </p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=900&fit=crop&dpr=1 600w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=900&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=900&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1130&fit=crop&dpr=1 754w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1130&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1130&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Diseases like cystic fibrosis have significant health consequences.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>These three diseases have significant health consequences and are among the most common recessive diseases. This is where only one parent carries a copy of the gene mutation (both parents need a copy for the child to become sick) and shows no symptoms. A healthy individual who carries a single recessive mutation is called a carrier. </p>
<p>Recessive diseases cause many severe disorders in children, but most of us who are healthy carriers <a href="https://www.ncbi.nlm.nih.gov/pubmed/21228398?dopt=Citation">don’t know</a> how many or what mutations we carry. Pre-pregnancy or <a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">preconception carrier screening</a> allows healthy couples to identify mutations they carry before they become pregnant. </p>
<p>So, what is the test used in the recent study, and should it be available to all prospective parents?</p>
<h2>What genetic tests are available?</h2>
<p>The recent study used the “<a href="https://www.vcgs.org.au/tests/prepair">prepair™ test</a>” to screen couples. It was conducted by the Victorian Clinical Genetics Service (VCGS), which provides the test to the public. The number of pregnancies affected with one of these three diseases (cystic fibrosis, spinal muscular atrophy and fragile X syndrome) during the course of the study was one in every 1,006 women. This figure is comparable to that of live births affected by <a href="http://www.who.int/genomics/public/geneticdiseases/en/index1.html">Down syndrome</a>. </p>
<p>Currently, <a href="https://www.alrc.gov.au/publications/10-genetic-testing/access-genetic-testing">government subsidies</a> for genetic testing and counselling are only available for couples once they have had a child with a suspected inherited disease or if there is a history for a particular disease in the extended family.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-should-we-offer-screening-for-down-syndrome-anyway-30351">Why should we offer screening for Down syndrome anyway?</a>
</strong>
</em>
</p>
<hr>
<p>Aside from the VCGS, there are at least five other providers in most Australian eastern states offering tests for different sets of recessive disorders. All five are consumer-pays tests. They range from A$350 to A$750, depending on the number of genes tested. </p>
<p>The largest gene panel tests for <a href="https://www.ivf.com.au/about-fertility/how-to-get-pregnant/preconception-screen">590 diseases</a> and costs the most, while <a href="https://www.sonicgenetics.com.au/tests/preconception-carrier-screening-panel-cf-sma-fragile-x/">others</a> only test for the same three recessive diseases VCGS offers. Another test screening for 175 recessive conditions is provided by <a href="https://www.counsyl.com/services/foresight/">Counsyl</a> through Australian clinicians.</p>
<h2>What can I expect from the prepair™ test?</h2>
<p>The VCGS prepair™ screens for specific mutations in the three genes causing the three diseases. Couples or individuals are considered at “increased risk” if they both carry a mutation for the same one of the three screened diseases. </p>
<p>The VCGS prepair™ genetic test is usually first offered to women before, or early, in their pregnancy (less than 12 weeks) by health professionals. These are usually GPs and obstetricians, as they are generally the first point of medical contact for soon-to-be-parents. Partners of carrier women are then offered testing.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=857&fit=crop&dpr=1 600w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=857&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=857&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1077&fit=crop&dpr=1 754w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1077&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1077&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">If each member of the couple carry the gene mutation for the same disease, their child has a 25% chance of the disorder.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>All carriers are offered a genetic counselling appointment and an appointment with a paediatric sub-specialist who has expertise in the specific disease. Results are also discussed with the referring health professional. For individuals or couples not identified as carriers, the report is sent to the referring health professional and no further testing or follow-up is required. </p>
<p>If couples are carriers for mutations in the same gene, any of their children have a 25% chance of being affected by the disease. If couples do not carry any of the mutations the VCGS test screens for, they are considered at “low risk” of having an affected child. </p>
<p>But while the risk of having a child affected by a genetic mutation is greatly reduced, it is not eliminated. The main benefit of tests screening for hundreds of genes is that a couple can know their carrier status for many more recessive diseases. </p>
<h2>How can couples use the test to make decisions?</h2>
<p>Understanding what it means to be a carrier and a high-risk couple allows prospective parents to decide how they want to approach conception and pregnancy. At-risk couples and those with a previous history of recessive disease frequently want to <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149658/">avoid having an affected child</a>. Couples may then opt for in-vitro fertilisation (IVF) to select only healthy embryos (without two mutations) for implantation. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/rest-assured-ivf-babies-grow-into-healthy-adults-23432">Rest assured, IVF babies grow into healthy adults</a>
</strong>
</em>
</p>
<hr>
<p>Couples may also decide to fall pregnant naturally and then test the fetus, through a test called <a href="http://www.pregnancybirthbaby.org.au/chorionic-villus-sampling-cvs">chorionic villus sampling</a>, towards the end of the first trimester to determine whether the baby carries two mutations. Or they may decide to adopt or forego having children. </p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/ZkOLTfEyLXg?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">TedXTalks.</span></figcaption>
</figure>
<p>If a couple decide to continue a pregnancy, knowing ahead of time their baby will be affected allows them time to process and make lifestyle plans to accommodate for their changing circumstances and engage with support groups. Rare disease groups such as <a href="https://smaaustralia.org.au/support-services/">Spinal Muscular Atrophy Australia</a> provide support in care options, resources and choices for families living with spinal muscular atrophy. If therapies are available, it also allows for <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392137/">treatment of the disease from birth</a>. </p>
<p>As no screening test guarantees a healthy baby, genetic counselling is crucial to explain the limitations and risks to couples. <a href="https://www.youtube.com/watch?v=7yIW0L9dLCQ">Counselling</a> involves communicating complex genetic information clearly to couples, clarifying any doubts and misconceptions and more importantly to interpret and explain test results. </p>
<h2>Should all couples have this test?</h2>
<p>Our experience shows access to this kind of genetic testing can be challenging. Generally this is because health care professionals can be unaware such tests are available locally; or be unfamiliar with how blood should be collected, or where to send specimens for testing. </p>
<p>Preconception carrier screening tests have also been confused with other prenatal tests, particularly the non-invasive prenatal test (<a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">NIPT</a>), by both parents and health care professionals. In this situation, parents may feel reassured their child does not have a genetic disease, but NIPT only tests for chromosomal problems (like Down Syndrome or trisomy 21) not single gene disorders. </p>
<p>This clearly shows awareness and education is critical among health care workers for preconception carrier screening programs to be successful.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?</a>
</strong>
</em>
</p>
<hr>
<p>Given the risk for an affected child for the three common recessive diseases is similar to Down syndrome, it may be considered carrier screening should be made available to everyone in Australia. But there are a number of issues that need to be addressed for this to happen.</p>
<p>These include consideration of the number of severe childhood disorders to be included for screening and who the target population would be. Studies are also required to inform the government of the most cost-effective method of offering such a test. </p>
<p>If a carrier screening program is to be implemented by the government, the infrastructure and clinical resources required to appropriately administer and sustain such testing must be explored to ensure all couples are informed and counselled as required. And <a href="http://www.health.gov.au/internet/msac/publishing.nsf/Content/17BAA5247F22729DCA25801000123C2C/$File/1165.1-FinalPSD-accessible.pdf">subsidy</a> of pre-implantation genetic diagnosis should also be considered for all carrier couples. </p>
<p>Pilot studies in different states may help explore how best a carrier screening program can fit into the different health systems in Australia.</p><img src="https://counter.theconversation.com/content/87083/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Gina Ravenscroft receives funding from the National Health and Medical Research Council and the French Muscular Dystrophy Association (AFM). </span></em></p><p class="fine-print"><em><span>Michelle Farrar receives funding from Motor Neuron Diseases Research Institute of Australia </span></em></p><p class="fine-print"><em><span>Nigel Laing receives funding from The Australian National Health and Medical Research Council (NHMRC), the Association Francaise contre les Myopathies (AFM), the US Muscular Dystrophy Association (MDA), a Foundation Building Strength for Nemaline Myopathy (AFBS).
</span></em></p><p class="fine-print"><em><span>Royston Ong receives scholarship funding from the Australian Postgraduate Award and the Australian Genomic Health Alliance. </span></em></p>Cystic fibrosis, spinal muscular atrophy and fragile X syndrome are serious diseases, and most couples carrying the genetic mutations for these don’t know it. Should they all be tested?Gina Ravenscroft, Research Fellow in neuromuscular disease and genetics, The University of Western AustraliaMichelle Farrar, Senior lecturer in Paediatric Neurology, UNSW SydneyNigel Laing, Professor, The University of Western AustraliaRoyston Ong, Phd Student in Population Genetics, The University of Western AustraliaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/586542016-05-09T16:23:23Z2016-05-09T16:23:23ZShould we edit out genetic disease?<figure><img src="https://images.theconversation.com/files/121568/original/image-20160506-32047-19m6erd.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Pipette tips with reaction mixture to amplify DNA.</span> <span class="attribution"><a class="source" href="http://www.shutterstock.com/pic-211209829/stock-photo-multichannel-pipette-tips-filled-in-with-reaction-mixture-to-amplify-dna-in-plastic-wells.html?src=tLc5wOr1hj3u6gpRb3CWmA-1-5">anyaivanova/www.shutterstock.com</a></span></figcaption></figure><p>As genomic medicine advances, the possibility of manipulating our genetic makeup, and that of our future children, is rapidly becoming a reality. But, even if we could edit out genetic disease, does that mean we should?</p>
<p>The launch of the <a href="https://www.genomicsengland.co.uk/the-100000-genomes-project/">100,000 Genomes Project</a> by the government in 2012 is part of a wider trend to launch whole-genome sequencing into mainstream healthcare. Whole genome sequencing – the examination of a person’s entire DNA sequence – is set to drastically alter the ways we approach health and disease. By providing detailed information about a person’s genetic constitution, genome sequencing has the potential to explain both current health problems as well as forecast future ones. This may be through identifying susceptibility to late-onset diseases, such as Alzheimer’s disease, or revealing our “carrier status” for inheritable conditions – that is, conditions we unknowingly carry in our genes that we could pass on to our children.</p>
<h2>Starting to become a reality</h2>
<p>Genome sequencing appears set to eventually become a standard part of pregnancy planning. Private genetics companies already use the techniques to screen couples for large numbers of genetic conditions simultaneously, before the female partner even becomes pregnant. If the couple is found to be at risk of passing on a genetic condition, they are offered various interventions to prevent the birth of an affected child. It is anticipated that embryo genome editing techniques – <a href="https://theconversation.com/crispr-cas-gene-editing-technique-holds-great-promise-but-research-moratorium-makes-sense-pending-further-study-43371">techniques</a> to remove disease-causing genetic mutations – might one day be among these interventions. </p>
<p>While genome sequencing on a mass scale is now largely feasible, important questions are yet to be answered about the ways they could, and should, be used. One group whose voices have been underrepresented in these debates are those of people already living with genetic disease. </p>
<h2>Imagining futures</h2>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=501&fit=crop&dpr=1 754w, https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=501&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/121570/original/image-20160506-32037-eh4oi5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=501&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">We conducted 36 in-depth interviews.</span>
<span class="attribution"><a class="source" href="http://www.shutterstock.com/cat.mhtml?lang=en&language=en&ref_site=photo&search_source=search_form&version=llv1&anyorall=all&safesearch=1&use_local_boost=1&autocomplete_id=&search_tracking_id=miUAWjtcxEwWqQ78HM_97A&searchterm=digital%20voice%20recorder&show_color_wheel=1&orient=&commercial_ok=&media_type=images&search_cat=&searchtermx=&photographer_name=&people_gender=&people_age=&people_ethnicity=&people_number=&color=&page=1&inline=358243190">FeudMoth/www.shutterstock.com</a></span>
</figcaption>
</figure>
<p>My research, the <a href="http://www2.warwick.ac.uk/fac/med/research/hscience/sssh/research/imagining_futures/">Imagining Futures project</a> – which has now also been transformed <a href="http://www.culture24.org.uk/art/art553179-Artists-Statement-Esther-Fox-on-the-Pandoras-Box-of-screening-for-disability">into an art installation</a> by Esther Fox at the Science Museum, London – explored the perspectives of people affected by a genetic disorder, focusing on one particular condition: <a href="http://www.nhs.uk/conditions/spinal-muscular-atrophy/pages/introduction.aspx">spinal muscular atrophy</a> (SMA). Like many of the other genetic diseases for which genome sequencing could be used to prevent, spinal muscular atrophy is both variable and unpredictable. It causes muscle weakness and breathing problems across a wide spectrum of severity, ranging from death in infancy to adult-onset disability. </p>
<p>Through 36 in-depth interviews with people living with spinal muscular atrophy (meaning either they or their family member had the condition), followed by a nationwide survey of 337 families affected by the condition, I explored attitudes towards genetic screening, and its associated social and ethical dilemmas. The results were, perhaps unsurprisingly, complex.</p>
<p>While most people (75%) supported some form of screening for spinal muscular atrophy, there was marked ambivalence. Concerns were raised – particularly by people diagnosed with the disorder – about the implications for society should people with their condition stop coming into the world. </p>
<p>For people with the disorder who live full and satisfying lives in spite of, or even because of, their condition, it is not hard to see how even the idea of screening is threatening. Amelia, who is in her late twenties with spinal muscular atrophy, said: </p>
<blockquote>
<p>I can’t support screening, for the simple reason that I have SMA. If I, of all people, support screening, then what I am saying about my own life? It would be the same as me saying that people like me shouldn’t have been born.</p>
</blockquote>
<p>Among parents who had lost a young child to spinal muscular atrophy, however, support for screening was understandably stronger. Nevertheless, even within this group, experience with the disorder was not usually presented as entirely negative. Rebecca, the mother of a baby (Oliver) who died from the disorder at nine months, viewed the situation in a way that was typical of other parents in her situation, even those who supported screening: </p>
<blockquote>
<p>For all the heartache and pain we went through, I wouldn’t look back now and wish Oliver hadn’t been born. He changed the lives of everyone he met. I would have missed out on that too had he not been born. So yes, we might have had a different child (without SMA), but that child wouldn’t be Oliver. And for me that’s the point.</p>
</blockquote>
<p>When considering whether (and how) to eradicate a genetic disorder from the human gene pool, it’s important that we consider the views of people like Rachael and Amelia, whose experiences would disappear alongside the condition. Life with genetic disease is usually difficult and painful, but it is also often filled with positivity, triumph and growth – not only for the person with the disorder, but also their families and wider society. The stories told by these families highlight the various ways that even stories of pain and difficulty have something positive to offer society. Ultimately, they reflect a fundamental part of what makes us human.</p><img src="https://counter.theconversation.com/content/58654/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Felicity Boardman receives funding from Economic and Social Research Council</span></em></p>It seems like a no brainer to edit out genetic disease…until we pause to consider what would be lost.Felicity Boardman, Senior Research Fellow, University of WarwickLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/501372015-11-04T14:06:24Z2015-11-04T14:06:24ZThe last psychopath: using the brain to root out disorder<figure><img src="https://images.theconversation.com/files/100738/original/image-20151104-21232-1of8ugp.JPG?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Eleanor Worthington Cox plays Jessie in Tomcat</span> <span class="attribution"><span class="source">Richard Davenport</span>, <span class="license">Author provided</span></span></figcaption></figure><p>It is compulsory for expectant mothers to have their unborn child genetically screened for disabilities or traits considered to be a burden to society. If a genetic “defect” is found, termination is mandatory. Those who refuse to comply face court orders.</p>
<p>This scenario is still science fiction, but for how long?</p>
<p>The subject is tackled in James Rushbrooke’s excellent play, Tomcat, which is currently running at <a href="http://southwarkplayhouse.co.uk/the-little/tomcat/">Southwark Playhouse</a> in London. </p>
<p>Twelve-year-old Jessie (Eleanor Worthington Cox) is the protagonist of the play. She is the last human carrying the genetic marker for psychopathy and has been the subject of a research project for ten years. She lives in captivity and is observed by a team of doctors and scientists who want to understand the biological basis of psychopathy. The researchers believe that it is not possible for the environment to save her from her genetic destiny.</p>
<h2>Deleting diversity</h2>
<p>Rushbrooke powerfully portrays a near future in which society has traded freedom and respect for humanity for a “healthy” populace, free of disability and disorders. The play raises the question: if we had the technology to get rid of the traits that cause a burden to society, should we use it? </p>
<p>But what counts as an illness or a disability? And is there a value in conserving disability? </p>
<p>We already have <a href="http://www.hfea.gov.uk/preimplantation-genetic-diagnosis.html">pre-implantation genetic diagnosis</a> that, in the UK, can be used to screen for thalassemia, cystic fibrosis, and other genetic disorders. It can also be used to screen for traits traditionally considered a disability, such as <a href="http://guide.hfea.gov.uk/pgd/">deafness</a>. </p>
<p>More recently, a maternal blood test called <a href="http://www.rapid.nhs.uk/guides-to-nipd-nipt/nipd-for-single-gene-disorders/">non-invasive prenatal diagnosis</a> was developed to test for single gene disorders and is being implemented in the UK. And <a href="http://www.whatisbiotechnology.org/science/crispr">CRISPR-Cas9</a> genome editing techniques may, one day, give clinicians the tools to edit embryos. A group at the Francis Crick Institute has already applied to the regulatory Human Fertilisation and Embryology Authority for <a href="https://theconversation.com/the-public-must-speak-up-about-gene-editing-beyond-embryo-modification-48623">a licence to use the technology in human embryos</a> in the lab, but clinical applications are still a long way off. </p>
<p>We also have other kinds of technologies that are discussed in the play. For example, brain imaging techniques, such as fMRI (which measures brain activity through changes to blood flow) are starting to reveal the biological basis for conditions such as <a href="http://www.ncbi.nlm.nih.gov/pubmed/15209063?dopt=Abstract&holding=npg">psychopathy</a> and <a href="http://www.theguardian.com/science/neurophilosophy/2012/may/30/1">body identity integrity disorder</a> by showing the differences in brain scans of people with these conditions. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=457&fit=crop&dpr=1 600w, https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=457&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=457&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=574&fit=crop&dpr=1 754w, https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=574&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/100741/original/image-20151104-21232-bgxgvo.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=574&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Murder in mind.</span>
<span class="attribution"><span class="source">www.shutterstock.com</span></span>
</figcaption>
</figure>
<p>Brain imaging has been used <a href="http://www.nature.com/news/2010/100317/full/464340a.html">in US courts</a> as evidence for psychopathy. In 2008, fMRI evidence was used, for the first time in a US court, to decide the fate of Brian Dugan, a man accused of murdering two children and a woman. An expert witness used evidence from fMRI brain scans (but not the scans themselves) to argue that Dugan should be given life in prison instead of the death penalty because of his condition. The defence argued that psychopathy made him do what he did, as he lacked empathy and was only partially responsible for his acts. But the prosecution argued that fMRI evidence should be used as aggravating circumstances, as psychopathy is not a condition that can be cured. Confining Dugan to a life in prison would only impose a burden on society and could not rehabilitate him, they argued. In any case Dugan was convicted and sentenced to death (<a href="http://blogs.chicagotribune.com/news_columnists_ezorn/2011/03/passing-thought-today-truly-marks-the-end-of-the-nicarico-murder-case.html">later commuted to life</a>). </p>
<p>More recent applications of brain imaging as <a href="http://www.huffingtonpost.com/inverse/neuroscience-and-the-future-of-the-insanity-defense_b_8147946.html">“insanity defense”</a> have prompted discussions of free will and responsibility of action. Court disputes around <a href="http://www.nature.com/news/neuroscience-in-court-the-painful-truth-1.16985">chronic pain cases</a>, which are traditionally been a hot subject because of the suspicion of malingering on the plaintiffs, are also being revolutionised with the introduction of brain imaging as proof of evidence of the conditions. The risk in the use of these technologies as a evidence of a biological underlying cause is a reduction of the individual to a brain or genes. It’s all nature, no nurture.</p>
<h2>A safe society, but at what cost?</h2>
<p>In Tomcat, Jessie echoes some of the arguments made by people with autism spectrum disorders who reject the label of disability and want to be considered “<a href="http://www.bbc.co.uk/diversity/disability/neurodiversityatthebbc">neurodiverse</a>” as their condition determines their identity. </p>
<p>These issues are timely. Disability rights activists have started to <a href="http://www.savingdownsyndrome.org/press-release-otago-university-bioethics-director-must-resign-following-discriminatory-paper-on-down-syndrome/">question the screening tests</a> which would lead to a future free of illnesses and disabilities. Would we relinquish our value of personal freedom for a “healthy” society? What would we lose of our humanity in such a world? Are we slipping towards eugenics with a new wave of biological determinism based on genes and brain scans?</p>
<p>Tomcat prompts reflections of how we think about disability, illness, and identity. As Jessie says: “I don’t want to be me if I can’t be me.” Isn’t this the case for all of us?</p><img src="https://counter.theconversation.com/content/50137/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Silvia Camporesi 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>Tomcat, a play by James Rushbrooke, portrays a dark future where there is no place for neurodiversity. Is this our future?Silvia Camporesi, Lecturer in Bioethics & Society, King's College LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/380242015-03-03T04:06:34Z2015-03-03T04:06:34ZShould doctors share gene tests after a death in the family?<figure><img src="https://images.theconversation.com/files/73547/original/image-20150303-15981-tq7j2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Families share genes but that doesn't mean no individual in a family should be accorded privacy about their genetic tests.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/magw21/126452964">magw21/Flickr</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-sa/4.0/">CC BY-NC-SA</a></span></figcaption></figure><p>Would you want your family members to be told about your genetic tests after your death if it meant saving their lives through early medical intervention? The authors of a <a href="http://www.cell.com/trends/molecular-medicine/abstract/S1471-4914(15)00003-9">paper just published</a> in Trends in Molecular Medicine argue doctors may only have a duty to disclose such information if asked by a living relative.</p>
<p>Consider the following case. Mary recently died from thyroid cancer, but some of her tissue is stored in the pathology laboratory where it was tested. For her particular cancer, early detection can mean the difference between life and death.</p>
<p>Mary’s sister Sally may want to know her own risk of developing the cancer, so she can take precautions if she has a genetic mutation. But she may, equally, not want to know, as some people don’t want to be influenced by the results of genetic tests. </p>
<h2>An ethical dilemma</h2>
<p>Mary’s doctor has two options.</p>
<p>The first is active disclosure, which places a legal or ethical duty on Mary’s doctor to warn her living relatives about their genetic risk. This duty violates Mary’s right to privacy and confidentiality. It also violates her autonomy (if autonomy is thought to continue after death), especially if Mary had stipulated that she didn’t want her relatives to know her medical details. </p>
<p>Being contacted by her late sister’s doctors could distress Sally and breach her right not to know her risk. What’s more, it might not be feasible to find or contact Mary’s relatives. </p>
<p>The second option is passive disclosure, which the authors of the paper prefer. For this option, Mary’s doctor would be justified in telling Sally about Mary’s condition if Sally asks. But the doctor does not have to contact Sally to tell her without prompting.</p>
<p>Concerns about the breach of Mary’s rights of privacy, confidentiality and autonomy could be minimised if there was counselling before all tests about possible postmortem disclosure to close relatives. This would also allay any concerns Mary’s doctor might have about breaching her privacy or autonomy.</p>
<p>The authors of the paper say active disclosure may be morally justified only if the risk of severe disease is very high and clinical action makes it possible to avoid disease. </p>
<h2>Australian law</h2>
<p>Australian law supports the authors’ stance, encouraging passive rather than active disclosure. Here, Mary’s doctor wouldn’t have a duty to contact Sally but, if Sally asked about her risk, the doctor could lawfully tell her about the risk revealed by Mary’s test. </p>
<p>The federal <a href="http://www.comlaw.gov.au/Series/C2004A03712">Privacy Act 1988</a> allows personal information about a patient to be disclosed to a genetic relative if the person holding the information: </p>
<blockquote>
<p>reasonably believes that the use or disclosure is necessary to lessen or prevent a serious threat to the life, health or safety of another individual who is a genetic relative of the first individual.</p>
</blockquote>
<p>Mary’s information can be disclosed to Sally without Mary having been counselled about such a possibility when she was tested. But there’s an important point here that the authors of the <a href="http://www.cell.com/trends/molecular-medicine/abstract/S1471-4914(15)00003-9">Trends in Molecular Medicine</a> paper do not mention. </p>
<p>Genetic information is of two kinds. The first is that a gene mutation exists in the family. The second is the status of particular family members for that mutation – positive or negative. </p>
<p>In Australia, Sally would be entitled to know the familial information – that the mutation exists in the family, but not whether Mary was positive or negative for the mutation. That part of Mary’s medical information remains confidential as Sally doesn’t need to know it for her own health care.</p>
<p>The Australian law makes it clear that doctors can breach confidentiality where it is necessary to protect the health of a close relative. That person’s health is more important than the privacy of the deceased.</p>
<p>The principle also emphasises the familial nature of genetic information, which is vital in the delivery of genetic services in the future.</p><img src="https://counter.theconversation.com/content/38024/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Loane Skene is a member of the NHMRC Australian Health Ethics Committee and Chair of the Ethics Committee of Peter McCallum Cancer Centre.</span></em></p>When a family member dies from a disease caused by a genetic mutation, doctors have to decide whether to share the deceased person’s test results with the rest of the family.Loane Skene, Professor of Law & Adjunct Professor, Faculty of Medicine Dentistry and Health Sciences, The University of MelbourneLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/303512014-08-11T20:26:17Z2014-08-11T20:26:17ZWhy should we offer screening for Down syndrome anyway?<figure><img src="https://images.theconversation.com/files/56157/original/bq57f8xt-1407738219.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">For the most part, pregnant women wish to remain pregnant – no matter how they came to be so.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/jerrylai0208/14281758292">Jerry Lai/Flickr</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>The details of a surrogacy case involving an Australian couple commissioning a pregnancy in Thailand have created outrage in all sorts of quarters. But the father’s admission that he would have asked the surrogate mother to terminate her pregnancy if he’d known baby Gammy had Down syndrome didn’t cause indignation in anywhere the same scale.</p>
<p>The notion of disability – and how we value or devalue people with it – makes many uncomfortable. Nevertheless, the screening most pregnant women choose to determine whether their child will have Down syndrome, and the terminations that result from it, are widely practised.</p>
<h2>Screening for abnormalities</h2>
<p>At around 12 weeks gestation, a woman may elect to have a combined screening test involving an ultrasound and a blood test. The results from these investigations provide a probability of the fetus having one of a few chromosomal trisomy conditions. </p>
<p>These conditions result from having three copies of a chromosome, rather than the usual two. They can be lethal in utero or lead to a very short life (such as with trisomy 18, known as Edwards syndrome and trisomy 13, known as Patau syndrome), or a spectrum of mild to significant intellectual disability, often presenting with cardiac problems (trisomy 21 - Down syndrome).</p>
<p>Based on this probabilistic information, the woman can then decide whether she would like to obtain further, and likely more accurate, information. </p>
<p>At the moment, this usually involves invasively obtaining a sample from the placenta or amniotic fluid. Some women decide to have this, some do not. And some will be informed that their fetus will be born with a chromosomal trisomy. </p>
<p>Of these, most will terminate. We don’t know how many women do this in Australia as data is not kept in a consistent way between states. But in the United Kingdom, <a href="http://www.bmj.com/content/339/bmj.b3794">a 2009 paper</a> gave the termination rate for detected cases of Down syndrome as 92%. </p>
<p>The ethical question is whether such screening, and ending those pregnancies where a condition is identified, is acceptable. </p>
<h2>Making choices</h2>
<p>For the most part, pregnant women wish to remain pregnant – no matter how they came to be so. While it is one thing for a male parent of a surrogate baby to claim, after the fact, that he would have requested a termination, the actual decisions faced by pregnant women are much less frivolous. </p>
<p>Screening is primarily about facilitating choice through information provision; it’s not about putting women on a conveyor belt to termination. </p>
<p>Because our society has differing views on conditions such as Down syndrome, some couples wish to access information to inform their decision-making in pregnancy. </p>
<p>Some wish to have this information to help adjust to life with a child who has a disability; others use it to plan for birth; while others might choose to end the pregnancy and try again. </p>
<p>This latter decision is not necessarily borne from inherent prejudice, but a recognition that certain conditions may mean their child could have profound problems. Ending a pregnancy is not something taken lightly, whatever the circumstances. </p>
<p>The moral status of the fetus is an intractable issue in our society. Nevertheless, termination is possible at certain points in pregnancy and for certain reasons. </p>
<p>Medical grounds, such as ending a pregnancy where the fetus will be born with Down syndrome, are permitted up to a point. </p>
<h2>Using knowledge wisely</h2>
<p>Still, the acceptability of both the offer to screen for abnormalities in pregnancy, and the action taken on the basis of its results should not detract from several important considerations. </p>
<p>First, women or couples must make a choice about screening and potential termination with access to full and balanced information. There’s <a href="http://www.nature.com/gim/journal/v7/n5/abs/gim200567a.html">some evidence</a> to suggest women don’t always have enough knowledge to make an informed choice. It must also be made clear that undergoing any test is a choice, not an expectation. </p>
<p>Second, women need to have time to think about their choices, which are often difficult and made under an inherent time pressure. </p>
<p>Third, we must not use screening as an excuse for withdrawing practical or psychological support for people who choose to continue a pregnancy that will lead to the birth of a child with a genetic or congenital condition. </p>
<p>Finally, we need to appreciate that although these decisions are made by women and couples based on their individual values, the social context in which they are made is also important. Conditions such as Down syndrome can lead to significant and profound problems, but they don’t always.</p>
<p>We must talk about our attitudes to disability and how we make choices about it. And we should aim for a society that recognises and supports all forms of ability and encourages discussion about our choices.</p><img src="https://counter.theconversation.com/content/30351/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ainsley Newson has previously received funding from the UK National Institute of Health Research for research into ethics and prenatal screening and diagnosis. Ainsley is a member of the NSW Health Clinical Ethics Advisory Panel and the Ethics and Social Issues Committee of the Human Genetics Society of Australasia.</span></em></p>The details of a surrogacy case involving an Australian couple commissioning a pregnancy in Thailand have created outrage in all sorts of quarters. But the father’s admission that he would have asked the…Ainsley Newson, Senior Lecturer in Bioethics, University of SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/248682014-03-31T05:13:43Z2014-03-31T05:13:43ZIf you have a genetic predisposition to cancer, it’s better to know about it<figure><img src="https://images.theconversation.com/files/44943/original/hhpwgdfv-1395940757.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">What's on your plate?</span> <span class="attribution"><a class="source" href="http://www.flickr.com/photos/35168673@N03/7227543906/sizes/l">libertygrace0</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>Most cancers happen by chance and there is no obvious inherited reason for them. However a small proportion of cancers occur as a result of a genetic predisposition because a gene passed down through generation of a family carries a mutation – this was <a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">the reason behind</a> actress Angelina Jolie’s decision to opt for a double mastectomy last year. </p>
<p>People with a strong family history of cancer – especially if many members of their family have been diagnosed with cancer, especially at a young age – may be carrying one of these genes. That is why it is important for everyone to find out their family’s cancer history. It may be difficult to broach the subject with relatives, but talking about cancer among families has the power to prevent later problems, improve access to early treatment and raise awareness. Families with a high incidence of breast and ovarian cancers are one example. </p>
<p>In the 1990s, scientists discovered that germline mutations in the “BReast CAncer” genes (BRCA1 and BRCA2) caused familial breast and ovarian cancer. <a href="http://www.cancerresearchuk.org/cancer-help/type/breast-cancer/about/risks/breast-cancer-genes">We now know that</a> mutations in BRCA1 or 2 account for around 10% of all ovarian cancers. Women who carry a BRCA1 gene mutation have up to a 90% lifetime risk of getting breast cancer, and up to 60% risk of ovarian cancer. For BRCA2 the rates are 80% and 30% respectively. </p>
<p>Members of BRCA-mutation carrying families may have developed their cancers at a younger age than the general population (for example when they were under 40). These are usually on one side of the family and can occasionally affect male relatives (causing male breast cancer) also. The mutation is passed down in a Mandelian fashion, which means a parent (either father or mother) who carries the mutation has a 50% chance of passing it to their children. </p>
<p>Fathers may be unaffected clinically but act as carriers and can pass the mutation to their children. The cancer therefore may skip a generation. If a person has breast or ovarian cancer they can have genetic testing in the form of a blood test to see if they carry BRCA gene defects. If a BRCA mutation is identified, other relatives that could potentially have inherited the mutation can be offered tests. </p>
<p>So how does it help to know whether carry a mutation? If you carry a BRCA mutation, you can significantly reduce your risk of getting breast or ovarian cancer by having surgery to remove these organs or have screening for breast cancer for early diagnosis. For example, removal of both ovaries dramatically reduces the risk of developing ovarian cancer. Similarly, a mastectomy is effective in reducing the risk of breast cancer. Deciding whether or not to have these operations is difficult, but knowing one’s genetic status is useful in making an informed choice. </p>
<p>Everyone has a different perception of risk, so some will opt for screening while others prefer surgery. The choices may be wide ranging. If a young woman finds out she has BRCA gene mutation, she may decide to have children at a younger age so that she can have her ovaries and breasts removed afterwards. </p>
<p>Although BRCA gene mutation is much talked about and has had a lot of publicity recently, there are other genetic predispositions that are worth mentioning. For example Lynch Syndrome may be inherited and passed on in families and can result in significant increase in risk of bowel cancer, endometrial cancer and ovarian cancer. There may be effective screening or chemo-preventative measures that can be offered such as colonoscopy for bowel cancer or mammography for breast cancer or <a href="http://www.health.harvard.edu/blog/taking-aspirin-linked-to-lower-risk-of-colorectal-cancer-201307166473">use of aspirin</a> in reducing risk of bowel cancer. </p>
<p>But knowing your family history is vitally important and as ovarian cancer awareness month draws to a close, what better time to think about talking to parents and grandparents about your family tree. If a person knows they have a mutation in any of these genes, they have the choice to make informed decisions about their health and future. Most people don’t leave important things to chance, why should we leave our health to chance? When it comes to cancer risk within families, it is definitely good to talk.</p><img src="https://counter.theconversation.com/content/24868/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sadaf Ghaem-Maghami is interim Chair of the Scientific Advisory Committee of the Royal College of Obstetricians and Gynaecologists. She is a researcher in the Ovarian Cancer Action Research Centre at Imperial College London.</span></em></p>Most cancers happen by chance and there is no obvious inherited reason for them. However a small proportion of cancers occur as a result of a genetic predisposition because a gene passed down through generation…Sadaf Ghaem-Maghami, senior Lecturer and consultant in gynaecological oncology, Imperial College LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/247412014-03-26T06:15:16Z2014-03-26T06:15:16ZGenetic screening to enhance IQ should be embraced<figure><img src="https://images.theconversation.com/files/44590/original/mqzkftfw-1395684095.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Time to unlock intelligence potential.</span> </figcaption></figure><p>There could be a way of predicting – and preventing – which children will go on to have low intelligence, according to the findings of a study researchers at Cardiff University presented on Monday. They discovered that children with two copies of a common gene (Thr92Ala), together with low levels of thyroid hormone are four times more likely to have a low IQ. This combination occurs in about 4% of the UK population.</p>
<p>Importantly, if you had just one of these factors, but not both, there did not appear to be an increased risk of low intelligence. These are early results, but suggest that it might be possible to treat children early with thyroid hormone supplementation to enhance their intelligence. This raises many ethical issues.</p>
<h2>IQ and quality of life</h2>
<p>A common objection is that being smarter does not make your life better. In this study, researchers were concerned with those with an IQ betweem 70-85. Below 70 is classified as intellectual disability but an IQ of 70 to 75 is similar to mild intellectual disability.</p>
<p>Even for individuals with an IQ between 75 and 90 there are still significant disadvantages. Job opportunities tend to be the least desirable and least financially rewarding, requiring significant oversight. More than half the people with this IQ level <a href="http://psycnet.apa.org/psycinfo/1997-43291-003">fail to reach the minimum recruitment standards for the US military</a>. Individuals with this lower level of intelligence are at <a href="https://nces.ed.gov/pubs93/93275.pdf">significant risk of</a> living in poverty (16%), being a chronic welfare dependent (17%) and are much more likely to drop out of school (35%) compared to individuals with average intelligence. Studies show that there is also an <a href="http://www.vulnerablegroupsandinclusion.net/index.php/vgi/article/view/14834/22691">increased risk of</a> incarceration and being murdered. </p>
<p>Linda Gottfredson, who’s undertaken much of this research, <a href="http://www.sciencedirect.com/science/article/pii/S0160289697900143">concludes</a> that at the very least, “an IQ of 75 is perhaps the most important threshold in modern life”. So it is clear that the low-normal intelligence, although not classified as disabled, are significantly disadvantaged. </p>
<p>If we could enhance their intelligence, say with thyroid hormone supplementation, we should.</p>
<h2>Ethical decisions</h2>
<p>It is important to recognise that the threshold of “normality” here has no moral significance. The dividing line between the IQ classifications of normal intelligence and intellectual disability at 70 is made statistically. It is statistical point, that around 2% of the population will fall below that level. But disease could have been defined slightly differently, changing the bar of where candidates qualify for medical therapy. </p>
<p>But what matters is not where you fall on a statistical curve for something like cognitive function, but how bad it is to be at that point – how does it influence how well your life goes or your well-being? It is pretty clear that low-normal levels of cognitive function tend to reduce well-being and so should be candidates for enhancement.</p>
<p>Another common objection to enhancement is that it would create inequality, allowing the rich to get smarter and pass on these benefits to their children. In this case, however, the interventions would only benefit those with an IQ of 70-85 – so it would in fact reduce inequality. This is a strong argument in their favour.</p>
<h2>Nature and nurture</h2>
<p>While medical treatments are important, how bad any condition turns out being depends on many other factors as well. For example, if those at risk of having a low-normal IQ were identified early, enhanced education or diet or other non-medical environmental modifications could be employed.</p>
<p>And there is another way this information could be used. Embryos are now routinely tested during IVF using genetic diagnosis for major diseases. But soon, whole genome analysis will be so cheap that it can be used to test the genomes of embryos in IVF. Should tests be done for gene variations that could contribute to causing low intelligence? Many genes will be like this one – alone they may not confer risk but in combination with certain environments (in this case low thyroid hormone) they have disadvantageous effects. </p>
<p>In my view, we ought to test embryos for such gene variants. Imagine you are having IVF and produce ten embryos. They are all clear of major diseases, but one of them has two copies of the Thr92Ala gene. Given that there are 9 others that don’t have this potentially disadvantageous trait, why not select one of them? Of course this does not guarantee that the embryo you do choose will have normal intelligence, but based on the information you have, it reduces the chances.</p>
<p>Given that the outcomes are so much worse than their alternatives, we should reduce the chances even by a small account, provided the costs aren’t great. But given that whole genome analysis is likely to be used in the future, why not use the information that is available to try to at least start off with a higher chance of a better life? Responsibility requires that we use predictive genetic information, including weakly predictive or context-specific genetic information.</p>
<p>A common objection is that we should concentrate not on genetic selection, but environmental improvement. You might say: “If my child is genetically disposed to having low intelligence, I will make sure we correct the thyroid hormone levels.”</p>
<p>But life isn’t this certain or controllable – we can’t guarantee that our attempts to control the environment will be successful. All we can do in life is try to reduce the chances of bad things happening, and increase the chances of good things happening. That includes using genetic information.</p>
<hr>
<p><em>This article was written with the help of Mikael Dunlop, who was formerly at the University of Oxford’s Uehiro Centre for Practical Bioethics.</em></p><img src="https://counter.theconversation.com/content/24741/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Julian Savulescu 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>There could be a way of predicting – and preventing – which children will go on to have low intelligence, according to the findings of a study researchers at Cardiff University presented on Monday. They…Julian Savulescu, Uehiro Professor of Practical Ethics at the University of Oxford and Louis Matheson Distinguished Visiting Professor, Monash UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/220372014-01-16T05:35:07Z2014-01-16T05:35:07ZCheap genome tests to predict future illness? Don’t hold your breath<figure><img src="https://images.theconversation.com/files/39176/original/6q4w6gfj-1389843556.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Before the technology can used more widely, we need to ensure its use will bring improvements in health, quality and duration of life.</span> <span class="attribution"><span class="source">Image from shutterstock.com</span></span></figcaption></figure><p>Sydney’s Garvan Institute is <a href="http://www.garvan.org.au/news-events/news/the-future-of-genomic-medicine-has-arrived-in-australia">this week promoting</a> its acquisition of an Illumina machine which it says can sequence the whole human genome for $1,000. The institute hopes genomic sequencing will become widely available in the near future, so Australians can understand and reduce their personal risk of certain diseases.</p>
<p>Genome sequencing is currently used to diagnose and treat some inherited disorders. But before the technology can be used more widely, we need to ensure its use will bring improvements in health, quality and duration of life. </p>
<h2>Genome sequencing</h2>
<p>The first human genome was sequenced 15 years ago at a cost of US$3 billion dollars and took over a decade to compete and assemble. </p>
<p>Sequencing an entire genome is a large task: if the human genome were a novel, sequencing it would be the equivalent to reading War and Peace one thousand times. The human genome comprises approximately 25,000 pairs of genes that we each inherit from our parents. These provide the instruction code for all our bodily functions from the moment of conception. </p>
<p>Each of our individual genomes is different. There are about 3 million differences (variants) in the genomes of any two unrelated people. Many of these variants account for physical differences, such as eye colour, between individuals. Some influence the risk of diseases such as diabetes. </p>
<p>Rare variants that disrupt a gene’s normal function (called mutations) may cause diseases that may be inherited. Knowing this information may help decision-making about management of disease or even enable individuals to reduce their disease risk by modifying diet and exercise, for example. </p>
<p>If applied on a wide scale, this technology could help reduce the burden of genetic disease in society.</p>
<h2>Current use</h2>
<p>In Australia, access to genetic testing has been limited largely to single gene tests for single genetic disorders. Only a handful of these tests are currently paid for through Medicare. </p>
<p>We are starting to see the introduction of gene panels that can screen for dozens or hundreds of high-risk genes in a single test. This is particularly useful for complex gene tests such as those used to identify patients with a high familial risk of developing cancer. </p>
<p>It is also possible to order gene tests from laboratories overseas that sequence the 1% of the genome that codes for the protein–coding genes (so called exome) or which can scan for many thousands of single risk variants. These tests are only available in Australia in a research setting but are likely to become routinely available to high-risk individuals and families in a year or so. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/39177/original/gbpd58zv-1389843826.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">Genome sequencing is currently used to diagnose and treat some inherited disorders.</span>
<span class="attribution"><span class="source">Image from shutterstock.com</span></span>
</figcaption>
</figure>
<p>Currently, this technology is being used to identify acquired mutations that arise in cancer cells to identify mutations for which there are specific therapies (so called targeted therapies). The aim here is to screen the patient’s tumour for particular cancer mutations in order to match the right treatment to the right patient. </p>
<p>This personalised approach to medicine is being quickly embraced by oncologists and their patients.</p>
<p>But the true cost of performing this testing is higher than the base cost of $1,000 and includes the costs of timely sample processing, analysis, complex interpretation and reporting. These labour costs are presently unknown but could be several times the cost of the sequencing.</p>
<h2>Death calculator? Not quite</h2>
<p>Understandably, there is a lot of <a href="http://www.theguardian.com/science/2013/jun/08/genome-sequenced">community interest</a> in healthy people having their genomes sequenced to predict, and hopefully prevent, disease in the future. </p>
<p>But while we may be able to work out what an individual’s genetic sequence is, we don’t necessarily know what it means or know how to use the information. We are certainly a long way off being able to predict anyone’s quality or duration of life.</p>
<p>One difficulty is that what causes a condition in one person may not affect another. For instance, one researcher points out that he <a href="http://hms.harvard.edu/news/harvard-medicine/harvard-medicine/handed-down/legacy">carries a mutation</a> known to cause a severe childhood condition, yet has no signs or symptoms of the condition. </p>
<p>Over time, large studies will build good evidence for the effects of variants associated with common conditions, as well as on the effect of prevention strategies based on this information. </p>
<p>In the meantime, ethical issues are arising over preventive testing. The United States’ National Institute of Health <a href="http://www.nih.gov/news/health/sep2013/nhgri-04.htm">recently announced</a> funding to investigate the use of genomic sequencing in screening of newborns. </p>
<p>As well as diagnosing conditions affecting these babies sooner, genomic sequencing could also predict the development of rare inherited adult onset conditions, such as hereditary breast cancer. This is information that some healthy, high-risk adults prefer not to know, while others may want to learn as much as possible. </p>
<p>There is currently no consistent view on how to deal with unexpected findings, which may or may not have health implications some time in the future, particularly when testing would be performed at birth or during pregnancy. </p>
<p>Genetic counselling, however, aims to facilitate decision-making based on personal values and accurate information, as well as promote adjustment after any results are received. This may help people considering testing to fully consider these complexities and their own preferences before undertaking any genetic testing.</p>
<h2>Regulation</h2>
<p>In Australia, laboratories offering genetic tests for medical use must be accredited to perform the particular tests. This helps ensure that all tests are both safe and effective and are performed only in an appropriate clinical context. </p>
<p>Government funding for such tests also requires the demonstration that the test and any associated treatments are cost effective. </p>
<p>These regulatory and funding requirements will present challenges for the new genomic technologies that are able to screen for all potential inherited disease risk in a given individual. </p>
<p>Much more research is needed to understand how best to use the vast amounts of information generated by these machines and to identify those individuals who will derive most benefit from or be harmed by this technology. </p>
<p>We also need to determine how to use genomic information cost effectively to improve quality of life and health outcomes.</p><img src="https://counter.theconversation.com/content/22037/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Paul Waring receives funding from NHMRC, VCA, DISSR, and ACRF grants. He has received research funding from Ventana Medical Systems and research support from Illumina and Life Technologies.</span></em></p><p class="fine-print"><em><span>Clara Gaff 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>Sydney’s Garvan Institute is this week promoting its acquisition of an Illumina machine which it says can sequence the whole human genome for $1,000. The institute hopes genomic sequencing will become…Clara Gaff, Program Leader, Melbourne Genomics Health Alliance, Walter and Eliza Hall InstitutePaul Waring, Head of the Department of Pathology and Director of the Centre for Translational Pathology, The University of MelbourneLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/144602013-07-03T05:46:15Z2013-07-03T05:46:15ZOpen sharing of genetic data carries great promise, but not without risks<figure><img src="https://images.theconversation.com/files/26738/original/bzwfk3yc-1372806973.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">What are my chances of developing a big head and might my eyes change colour?</span> <span class="attribution"><span class="source">Micha</span></span></figcaption></figure><p>The price of gene sequencing has plummeted in the last few decades. Now we can know what our DNA looks like, and discover what our bodies may have in store for us in the future. We can know medical information such as <a href="http://bit.ly/1ctxCd0">how long asthma will last</a> to our <a href="http://www.cancerresearchuk.org/cancer-help/type/breast-cancer/about/risks/breast-cancer-genes">likelihood of getting certain types of cancer</a>. </p>
<p>23andMe is the largest genetic testing company, providing DNA analysis directly to over 200,000 customers worldwide. Its test is not meant to be a diagnostic tool, but is intended for research and educational purposes. It detects about a million genetic markers from the human genome. These markers are associated with a range of traits from bitter taste perception or eye colour to vulnerability to diseases such as Parkinson’s or Alzheimer’s. </p>
<p>Genome-Wide Association Studies are used to establish the link between markers and traits. Such studies are conducted by comparing the genetic makers in a sample of people who have a specific trait to a control population who don’t. To give reliable results, a study needs to have a sufficiently large number of participants, with thousands or better ten thousands of people enrolled. This can be an obstacle, but 23andMe has realised the potential of its large customer base, and uses the data of consenting clients in its research.</p>
<p>A <a href="http://news.nationalgeographic.com/news/2013/06/130614-supreme-court-gene-patent-ruling-human-genome-science/">US Supreme Court ruling</a> on gene patents last month means that tests on naturally-occuring genes such as BRCA1 and BRCA2 can no longer be monopolised by private companies, though synthetic DNA can still be patented. This represents a significant hurdle cleared for genetic testing, with lower costs giving more people the chance to get tested, hence providing more data for studies. But sharing the data of people involved in research is a delicate subject.</p>
<p>Sharing data isn’t a big part of our culture. Privacy is a large issue for genetic testing. What happens if employers, insurance companies or the government get access to the data? Can they use it to fire you, raise your insurance rates or as evidence in criminal investigations? </p>
<p>The law can protect individuals to some extent. For instance, in the US, the <a href="http://en.wikipedia.org/wiki/Genetic_Information_Nondiscrimination_Act">Genetic Information Non-Discrimination Act</a> is designed to prevent the use of genetic information in employment and health insurance. But they may not offer protection from all negative uses of genetic information. The US laws do not cover long-term care or life insurance. </p>
<p>Despite these issues, many individuals who purchased personal genetic test results have published them openly on the internet - often on their own websites - to give the world access to their data. This also has the benefit of changing their role from passive research subject to active agent of scientific endeavour. The first projects, which try to offer a platform for people who want to share their genetic data with the world, have already started. </p>
<p>One of the oldest is the <a href="http://www.personalgenomes.org/">Personal Genome Project</a>, which started in 2006 at the Harvard Medical School. Volunteers can enrol in the study, which aims to publish the full genomes along with medical records of 100,000 participants into the public domain. </p>
<p>Another such project is <a href="http://opensnp.org">openSNP</a>, which we started in 2011. It allows genetic testing customers to publish their data, along with traits they have, into the public domain. OpenSNP also mines the scientific literature for the different genetic markers tested by companies like 23andMe and acts as a platform where people can discuss genetic variants, recent studies and test results. </p>
<p>Although neither project has the number of users to allow large scale studies, the data is already being put to use. Last year, the Personal Genomics Project (PGP) started the <a href="http://evidence.personalgenomes.org/about">GET-Evidence database</a>, a tool for the automatic annotation of genetic variations. And data from openSNP is already being used by the genetic genealogy community to compare old DNA samples like that of <a href="http://www.iceman.it/en/node/226">Ötzi the Iceman</a> or the ancient <a href="http://www.nhm.ac.uk/nature-online/life/human-origins/early-human-family/denisovans/index.html">Denisovan</a>. Individual openSNP users are also testing their own annotation software with the available data and returning the results. </p>
<p>But this openness may come at a cost, and there are still many bio-ethical considerations to think through. The biggest point of debate is informed consent. It is arguable whether participants of projects such as the PGP or openSNP have understood the potential risks they take by making their data available. While users can participate in both projects with a pseudonym, it will always be possible to identify them because of the unique nature of an individual’s genome. </p>
<p>To tackle this worry, the PGP limits its participants to permanent residents of the US and each one has to take a series of online tests. This meets the standards of the Institutional Review Board (IRB) of Harvard Medical School. OpenSNP has no such process, as it is run outside of the academic sphere with no funding, making it more difficult to get IRB approval. </p>
<p>But even without projects such as the PGP or openSNP, people would not stop sharing their genetic data via websites, source code-platforms like GitHub or even Facebook. Right now, technical progress is moving too fast for legislation and bioethical best practices to catch up. Propositions like <a href="http://www.weconsent.us">Portable Legal Consent</a> are taking the first steps to adapt human subject research for a culture of sharing in the internet age. But we have a long way to go before we can enjoy all the benefits that collaborating and openly sharing data can bring to human genetics.</p><img src="https://counter.theconversation.com/content/14460/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Bastian Greshake is affiliated with openSNP.</span></em></p>The price of gene sequencing has plummeted in the last few decades. Now we can know what our DNA looks like, and discover what our bodies may have in store for us in the future. We can know medical information…Bastian Greshake, PhD Student and Research Assistant, Goethe University Frankfurt am MainLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/152122013-06-14T14:36:14Z2013-06-14T14:36:14ZSupreme Court BRCA patenting decision: experts respond<figure><img src="https://images.theconversation.com/files/25592/original/gkwwz66y-1371219058.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Angelina Jolie has a double mastectomy after discovering she carried a mutation of the BRAC1 gene.</span> <span class="attribution"><span class="source">Dominic Lipinski/PA Wire</span></span></figcaption></figure><p>Millions of women in the US will have access to affordable genetic screening for cancer after the US Supreme Court ruled that a commercial company cannot patent human genes.</p>
<p>The screening tests for mutations in the BRCA1 and BRCA2 genes that increase someone’s risk of developing breast cancer. Actress Angelina Jolie recently revealed that she had undergone a double mastectomy after the test revealed she had an 87% chance of getting breast cancer. </p>
<p>But since the 1990s, the BRCA1 and BRCA2 genes have been patented by Myriad, a Utah-based company, which charged at least US$3000 (£1,900) a time for the test. It argued that removing the patents would stifle innovation.</p>
<p>But after a successful legal challenge to the company’s monopoly - unanimously upheld by judges - US labs will now be able to carry out the tests for less than US$200 (£127) a time.</p>
<p>The <a href="http://www.supremecourt.gov/opinions/12pdf/12-398_8njq.pdf">court upheld patents</a> for synthetic cDNA “because it is not naturally occurring”.</p>
<p>What does the ruling mean for women who may be at risk of cancer? And will it stifle research leading to less? A panel of experts responds below</p>
<hr>
<p><strong>Professor Anneke Lucassen, Clinical Geneticist, University of Southampton:</strong></p>
<p>Looking at the reaction to the news and on Twitter the decision is seen as a victory. The reason health professionals and patients are happy is because you can’t do genetic tests on those genes without paying a fee to Myriad.</p>
<p>But companies can still patent synthetic DNA, and I wonder what this will mean in practice. In order to do DNA tests you have to copy it first. Because you can’t sequence it directly, you have to copy the naturally occurring [DNA] compound to analyse it. Those copies aren’t covered by the ruling as far as I can see. If that’s the case then they can still patent those and this isn’t as big a victory as the headlines are making out. There’s still a loophole. </p>
<p>In the UK and Europe the decision wasn’t so eagerly awaited as we weren’t strangled by Myriad. In the US they had to pay around $3000, whereas here it costs some £500 a go because the European Patent Office doesn’t observe US rules. In practice we haven’t had to pay Myriad for testing. But the principle of not being able to patent people’s genetic code is of course as welcome here as in the US.</p>
<hr>
<p><strong>Professor Marcus Pembrey, Emeritus Professor of Paediatric Genetics, University of Bristol</strong></p>
<p>It’s good news. I’m a clinical geneticist in paediatrics and I’ve dealt with families with inherited disorders. We were involved in early work on haemophilia and other types of monogenic conditions, which are genetically determined and only involved only one altered gene, to help families who had this problem running through them. It was a great surprise at the time that companies were able to patent. </p>
<p>I’m not against patents. But it might be in the clever way someone comes up with for analysing it - as happened with polymerase chain reaction which was a clever idea of taking a bit of DNA and amplifying it so you could look at lots of DNA at the same time. That was a good example of a patent and a clever idea that pushed the research field forward very quickly.</p>
<p>Trying to patent gene sequences and the fault in them - it’s a naturally occurring thing and not patentable. You might argue that it’s a legal issue not an ethical one but there’s an element of ethics. It’s trying to extract additional profit from what to some extent is a human right.</p>
<hr>
<p><strong>Professor Alan Ashworth, head of the Institute of Cancer Research and part of the team who discovered BRCA2:</strong></p>
<p>The argument that innovation will be stifled if there are no rewards for “invention” is particularly pernicious. Commercial organisations can be exceptionally innovative and it is only right that this is rewarded. But patenting is not the only way to ensure innovation. </p>
<p>Tests for potentially fatal BRCA mutations are already saving lives by diagnosing women at highest risk of developing breast and ovarian cancer. By identifying women who carry high-risk BRCA mutations, doctors can help them make decisions on their future treatment, for example by offering a preventative mastectomy.</p>
<p>When we found the BRCA2 gene our aim was that our discovery was used to help cancer patients.</p>
<hr>
<p><strong>Professor Julian Savulescu, Uehiro Chair in Practical Ethics and Director, Institute for Science and Ethics, Oxford University:</strong></p>
<p>I don’t think it is clear at the moment whether this decision is good or bad. Patents are there for a period of time and the misunderstanding people have is that these genes are owned by the company. The patents are held for seven years to enable companies to recoup investment. So during that seven years you could say research is restricted.</p>
<p>Create mechanisms to make it worthwhile. It may be that patenting isn’t the best way but it’s an empirical issue. The legal system might be irrational but it is very important to know what the consequences are. It’s very easy to say it should be free.</p>
<p>Patents are all of limited timespan. It could be that in the longer term this is the best way to maximise investment. I do think you need to provide a mechanism. We don’t live in a Communist state and I’m concerned you have very long term consequences on research.</p>
<p>On the other hand we want as many people as possible to access these tests and make decisions on the basis of them. Angelina Jolie did a good thing in raising public awareness of these possibilities. But it’s hard to know at this point whether this ruling will have an impact.</p><img src="https://counter.theconversation.com/content/15212/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Alan Ashworth is Chief Executive of the Institute of Cancer Research and receives a number of relevant grants through the organisation</span></em></p><p class="fine-print"><em><span>Julian Savulescu has received funding from the Wellcome Trust for a Hinxton Collaboration group meeting on patents and intellectual property</span></em></p><p class="fine-print"><em><span>Marcus Pembrey receives funding from the Medical Research Council</span></em></p><p class="fine-print"><em><span>Anneke Lucassen 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>Millions of women in the US will have access to affordable genetic screening for cancer after the US Supreme Court ruled that a commercial company cannot patent human genes. The screening tests for mutations…Alan Ashworth, Chief Executive, Institute of Cancer Research, LondonAnneke Lucassen, Professor of Clinical Genetics, University of SouthamptonJulian Savulescu, Sir Louis Matheson Distinguished Visiting Professor, Monash UniversityMarcus Pembrey, Emeritus Professor of Paediatric Genetics, University of BristolLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/138852013-05-17T05:53:10Z2013-05-17T05:53:10ZTeasing out harmful bacterial genes to reduce resistance to antibiotics<figure><img src="https://images.theconversation.com/files/264/original/AAP_superbug.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The drugs don't work. But a swifter way of identifying bacteria could reduce the need for antibiotics.</span> <span class="attribution"><span class="source">AAP</span></span></figcaption></figure><p>Researchers have taken the first step towards designing a rapid way of identifying harmful bacteria in infections, demonstrating the potential for faster patient treatment and decreased reliance on antibiotics.</p>
<p>The collaborative effort, <a href="http://mbio.asm.org/content/4/2/e00064-13.long">reported by journal mBio</a>, involved scientists from many US universities and government research institutes. Led by Christopher Grim at the US Food and Drug Administration, the group aimed to identify the disease-causing genes of <em>Aeromonas hydrophila</em> bacteria and create a “checklist” of genes that doctors could use to spot harmful members of the species in patients.</p>
<p><em>A. hydrophila</em> is found in freshwater and estuaries worldwide, usually existing harmlessly in the environment. Occasionally, however, it can infect a human through an open wound exposed to water, or by being swallowed. Open wounds infected with <em>A. hydrophila</em> can result in a potentially fatal flesh-eating disease, called “necrotising fasciitis”.</p>
<p>The researchers investigated two strains of <em>A. hydrophila</em> taken from an inflamed wound. Both strains were resilient to initial antibiotic treatment, though one was more persistent and the major cause for inflammation. </p>
<p>They sequenced the entire genetic sequence (genome) of both types of <em>A. hydrophila</em>, as well as those of several close relatives. By comparing the genetic codes they identified the genes the harmful strain had that its relatives didn’t. </p>
<p>They then used common tests to show that a selection of the identified genes improved the bacteria’s ability to cause disease. One test investigated how effectively the bacteria destroy red blood cells, which causes inflammation. When broken up, these cells release haemoglobin - the compound that gives them their colour. The colour change this causes in a culture can then be measured.</p>
<h2>The cause of resistance</h2>
<p>Traditional ways of identifying bacteria of any species involve comparing bacterial growth under different conditions. This can take days, weeks or even months. During this time, patients are generally treated with broad-spectrum antibiotics that kill many bacterial species. However, as with the harmful <em>A. hydrophila</em>, more specific antibiotics are required to kill some pathogens. </p>
<p>This means that broad-spectrum antibiotics are being used unnecessarily in efforts to treat patients. Over time, this causes an increase in antibiotic resistance as <a href="https://theconversation.com/we-can-beat-superbugs-with-better-stewardship-of-antibiotics-9492">bacteria evolve to defend themselves</a>.</p>
<p>Joshua Shak of Emory University, a co-author of the study, believes that genetics-based diagnoses could slow the spread of antibiotic resistance. The technology’s use in identification of bacteria could allow faster turnaround on test results. This would, if selective medicines were developed, minimise reliance on broad-spectrum antibiotics, because doctors would know earlier whether specialist treatment was needed. If fewer bacteria are exposed to antibiotics then the chances of any evolving resistance are reduced.</p>
<h2>Towards a dream</h2>
<p>Shak acknowledges, however, that the use of genomics in diagnostics is still years from becoming commonplace. So is the development of tailored medicine. He says that, while the technology for rapid sequencing exists, analysis of the data is still a relatively slow process.</p>
<p>Gary Van Domselaar, a bioinformatician at the University of Manitoba, agrees with Shak. He says, “These new technologies have placed the ability to sequence biological organisms in the hands of nearly any research laboratory. The current major hurdle no longer lies in the generation of whole genome sequences, but in their analysis.”</p>
<p>The current limitations of data analysis are seen in this study. The <em>A. hydrophila</em> genome is roughly 4.7 million characters long and within it there are over 4,000 genes. The group sequenced the isolated strains’ genomes in a matter of days, yet it took years to confirm the genes involved in causing disease.</p>
<p>Despite this, Shak hopes that, as the genomes of more bacterial species are sequenced and analysed, further analyses will become easier and faster. This is the beginning of the dream where medicines are tailored to individual patients’ needs according to the genes of the bug causing trouble.</p><img src="https://counter.theconversation.com/content/13885/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ian Wilson 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>Researchers have taken the first step towards designing a rapid way of identifying harmful bacteria in infections, demonstrating the potential for faster patient treatment and decreased reliance on antibiotics…Ian Wilson, PhD student, University of LiverpoolLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/75992012-09-27T04:21:49Z2012-09-27T04:21:49ZWhat’s the genetic disease risk for children of related couples?<figure><img src="https://images.theconversation.com/files/13460/original/8qq4fdg6-1343274397.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Depending on the condition a couple risk passing to their child, testing can be offered as carrier screening.</span> <span class="attribution"><span class="source">Shirl/Flickr</span></span></figcaption></figure><p>Marriages between people who are related is more common than you might think. Unlike what many people think, their offspring are not doomed to birth defects or medical problems. </p>
<p>In fact, unless they both carry the same gene mutation, the couple’s chance of having a healthy child is almost as high as any other couple. Let’s examine why, through the story of one couple.</p>
<h2>And baby makes three</h2>
<p>Maria is planning a pregnancy with her partner Max. They visit their doctor to discuss family planning and pregnancy health, and during questioning, they disclose that they’re first cousins. Their doctor refers them to a clinical genetics service for further advice. </p>
<p>What risks do they face, if any? And what information would be requested by the clinical genetics service?</p>
<p>In multicultural Australia, marriage between family members <a href="https://theconversation.com/why-not-marry-your-cousin-millions-do-7503">does occur</a>, most commonly between first or second cousins. From a medical perspective, Mary and Max have several issues to consider.</p>
<p>The first of these relates to their exact genetic relationship. Genetically speaking, the closer one is to a family member, the more genes will be shared. Monozygotic (identical) twins have the same genetic make-up and share 100% of their genes. A parent and child share half their genes, as do siblings. An uncle and his niece, or an aunt and her nephew (a second-degree relationship) share a quarter of their genes. </p>
<p>Maria and Max, being cousins (a third-degree relationship), share an eighth of their genetic make-up. This being the case, what are Maria and Max at risk of?</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=399&fit=crop&dpr=1 600w, https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=399&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=399&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=501&fit=crop&dpr=1 754w, https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=501&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/13459/original/y3hk7qjq-1343273811.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=501&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Receiving the same faulty genes from both parents puts a child at risk of having a genetic disease.</span>
<span class="attribution"><span class="source">Ryan Croson</span></span>
</figcaption>
</figure>
<p>As they share a significant proportion of their genes, the couple are at risk of having a child with an autosomal recessive condition. This kind of condition is caused by having a “double dose” of a faulty gene. </p>
<p>We have two copies of every gene (for most genes) – one inherited from our father, and one from our mother. For many genes, our body can cope with just a single working copy, but when both copies are faulty, the person gets an autosomal recessive disease. Examples of such diseases include cystic fibrosis, <a href="http://www.thalassaemia.org.cy/pdf/What%20is%20Thalassaemia.pdf">thalassaemia</a> (diseases of the blood), and spinal muscular atrophy. </p>
<h2>Calculating risk</h2>
<p>Most of us carry a handful or so of faulty recessive genes so marrying within your family increases your chance of “meeting” someone else with the same faulty recessive genes as you. And working out the degree of risk to Maria and Max’s offspring depends on whether or not they have a known family history of an autosomal recessive condition. </p>
<p>In the genetics clinic, a medical geneticist would ask them about the health of family members going back several generations, and draw a detailed family tree. Reports about other family members might need to be verified to establish an exact diagnosis. </p>
<p>If Maria and Max do have a family history of an autosomal recessive condition, such as thalassaemia, their degree of risk could be calculated based on who the affected individual was. Depending on the exact condition, testing could be offered as carrier screening. In the case of thalassaemia, for instance, Maria and Max could be offered a blood test to look for changes in their blood cells that might indicate that they’re carriers of the thalassaemia gene.</p>
<p>But if they don’t have any family history of an autosomal recessive condition, the medical geneticist would have to rely on risk estimates based on population data and general experience. We know (based on Victorian data) that approximately <a href="http://docs.health.vic.gov.au/docs/doc/Birth-defects-in-Victoria-2005-2006">four in 100 couples</a> will have a baby with a birth defect, which may be mild or severe. First-cousin marriages add extra risk to this, resulting in an approximate <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1762250/pdf/ajhg00455-0069.pdf">doubling of the background risk</a>.</p>
<p>Without a family history of an autosomal recessive condition, Maria and Max have an 8% chance of having a child diagnosed with a problem after birth. In other words, their chance of having a healthy baby is greater than 90%, a figure that most people find quite reassuring.</p>
<p>This figure is not too different to the general population risk of having a baby with a birth defect. Most related couples accept this risk and focus instead on general measures to have a healthy baby, such as taking folate, losing weight, and reducing their intake of alcohol and cigarettes.</p>
<p><em>For advice on this topic or if you have concerns about a possible genetic condition in your family, contact the <a href="http://www.vcgs.org.au">Victorian Clinical Genetics Services</a> or your local clinical genetics service.</em></p><img src="https://counter.theconversation.com/content/7599/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Tiong Tan 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>Marriages between people who are related is more common than you might think. Unlike what many people think, their offspring are not doomed to birth defects or medical problems. In fact, unless they both…Tiong Tan, Clinical Geneticist at Victorian Clinical Genetics Services and Researcher in Craniofacial Research, Murdoch Children's Research InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/90802012-09-12T20:37:53Z2012-09-12T20:37:53ZHow genetic testing is swelling the ranks of the ‘worried well’<figure><img src="https://images.theconversation.com/files/15344/original/gkn3bxs7-1347344176.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic testing can render perfectly healthy people into the "worried well."</span> <span class="attribution"><span class="source">Thomas Hawk</span></span></figcaption></figure><p><em>OVER-DIAGNOSIS EPIDEMIC – Today Jacqueline Savard talks about the growing prevalence of genetic testing and what impact they have on over-diagnosis.</em> </p>
<p>Genetic testing and screening is increasingly becoming a presence in our lives. Daily news reports discuss new associations between genes and common conditions. And these associations are used to calculate risks for individuals who have the genes for the conditions, but don’t display any symptoms. </p>
<p>In essence, these people become the “worried well”, a group of people not yet ill, but at risk of developing diseases.</p>
<h2>Genetic tests and over-diagnosis</h2>
<p>Once restricted to the domain of the clinic, genetic testing is now available to most people, either through their doctor or via the internet. There are a variety of tests in the market, some of which can provide risk estimates associated with complex common diseases such as diabetes, obesity, Alzheimer’s disease and cancer. </p>
<p>A major concern with such tests is that they’re the beginning of a path toward over-diagnosis, where the potential to develop a disease or being at risk for the disease is strong enough to constitute a label of sickness. </p>
<p><a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2714679/">Over-diagnosing</a> includes, but is not limited to, widening disease definitions, early detections of abnormalities that may or may not cause symptoms or death and the use of increasingly sensitive technologies that detect “abnormalities,” the causes and consequences of which are unknown at this time. </p>
<p>Genetic testing and screening could be seen as the ultimate test (the most fundamental part of one’s body and life is used to classify a person as ill or potentially ill), so what are the implications of using this technology to assist in diagnosing and classifying people?</p>
<h2>The worried well</h2>
<p>For the individual whose health status is in question, genetic testing has the potential to give them a label, adding them to a growing class of citizens, the <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3076970/">“worried well”</a>. These people are not ill as they don’t display symptoms of the condition with which they are labelled. Nor are they clinically diagnosed as having the disease in question. Instead, they are at a pre-phase, they are now genetically at risk for a particular disease. But the date, time, and list of symptoms they’re likely to experience or the severity of the illness are yet to be determined. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/15391/original/ffc8r8tv-1347431003.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="attribution"><span class="source">www.shutterstock.com</span></span>
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<p>For an individual seeking an explanation for their state of (ill) health, over-diagnosis based on their genetics can confirm their fears that something <em>may</em> be wrong. This means they are now expected to fulfil personal, familial and societal roles traditionally associated with being sick while not actually displaying symptoms of illness. </p>
<p>Along with this new role, the worried well are also endowed with benefits traditionally reserved for people who are unwell – special levels of treatment, access to certain medical care and different levels of expected behaviour. And, to know that you are at risk for a disease means you are also now responsible for taking action to reduce or subvert your likely future of ill health. Not to do so could render you morally culpable for any ill-health your future may hold.</p>
<h2>Social implications</h2>
<p>For society, the implications of genetic testing and over-diagnosis is the opportunity cost of treating the genetically at risk rather than those who are symptomatically ill. In the struggle for scarce resources, decisions are made between who and what diseases will receive the funds they desperately need. At this intersection, diagnosis plays a pivotal role in what and who is a beneficiary of the resources available and how they can best be procured. </p>
<p>One potential (and limited) benefit of these tests is the creation of new markets for drugs or preventative treatments that can flourish as more people are labelled with conditions. But with health-care costs increasing and the need for rationing a central concern, there’s also the danger that resources will be diverted from public health measures that have a chance of preventing genuine illness in favour of treating <a href="http://www.bmj.com/content/344/bmj.e3502.full?ijkey=tzRK2ncLto2JJ9I&keytype=ref">“pseudodiseases”</a>. </p>
<p>If we are not careful, we may let the benefits of a sick label outweigh the benefits associated with being healthy. In this new millennium of advancing technologies, there’s cause for concern when the race is no longer toward who can be described as healthy, but who can be classified as ill or diseased.</p>
<p><em>Have you or someone you know been over-diagnosed? Share your story below or <a href="mailto:reema.rattan@theconversation.edu.au">email</a> the series editor.</em></p>
<p><em>This is part four of our series on over-diagnosis, click on the links below to read other articles:</em></p>
<p><em><strong>Part one:</strong> <a href="https://theconversation.com/preventing-over-diagnosis-how-to-stop-harming-the-healthy-8569">Preventing over-diagnosis: how to stop harming the healthy</a></em></p>
<p><em><strong>Part two:</strong> <a href="https://theconversation.com/over-diagnosis-and-breast-cancer-screening-a-case-study-7396">Over-diagnosis and breast cancer screening: a case study</a></em></p>
<p><em><strong>Part three:</strong> <a href="https://theconversation.com/the-perils-of-pre-diseases-forgetfulness-mild-cognitive-impairment-and-pre-dementia-8702">The perils of pre-diseases: forgetfulness, mild cognitive impairment and pre-dementia</a></em></p>
<p><em><strong>Part five:</strong> <a href="https://theconversation.com/psa-screening-and-prostate-cancer-over-diagnosis-8568">PSA screening and prostate cancer over-diagnosis</a></em></p>
<p><em><strong>Part six:</strong> <a href="https://theconversation.com/over-diagnosis-the-view-from-inside-primary-care-8889">Over-diagnosis: the view from inside primary care</a></em></p>
<p><em><strong>Part seven:</strong> <a href="https://theconversation.com/moving-the-diagnostic-goalposts-medicalising-adhd-8675">Moving the diagnostic goalposts: medicalising ADHD</a></em></p>
<p><em><strong>Part eight:</strong> <a href="https://theconversation.com/the-ethics-of-over-diagnosis-risk-and-responsibility-in-medicine-9054">The ethics of over-diagnosis: risk and responsibility in medicine</a></em></p>
<p><em><strong>Part nine:</strong> <a href="https://theconversation.com/ending-over-diagnosis-how-to-help-without-harming-9633">Ending over-diagnosis: how to help without harming</a></em></p><img src="https://counter.theconversation.com/content/9080/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jacqueline Savard 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>OVER-DIAGNOSIS EPIDEMIC – Today Jacqueline Savard talks about the growing prevalence of genetic testing and what impact they have on over-diagnosis. Genetic testing and screening is increasingly becoming…Jacqueline Savard, PhD Candidate, University of SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/68432012-05-04T04:25:12Z2012-05-04T04:25:12ZSharing isn’t always caring: genetic privacy must come first<figure><img src="https://images.theconversation.com/files/10341/original/jymnd6q9-1336093980.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Genetic information should only be shared with full and informed consent.</span> <span class="attribution"><span class="source">Jack Fussell</span></span></figcaption></figure><p>Yesterday on The Conversation, Timothy Smith from the Florey Neurosciences Institute <a href="https://theconversation.com/sharing-is-caring-we-need-open-access-to-genetic-information-6695">argued</a> that in order to improve genetics research, we need free and open access to genetic information. But while the potential benefits of sharing genetic information are enormous, they cannot be allowed to come at the expense of individuals’ rights to privacy of their medical information.</p>
<p>Australia’s national <a href="http://www.privacy.gov.au/law/act">Privacy Act</a> and state health records legislation recognise patients’ rights to privacy, and complement traditional <a href="https://theconversation.com/why-loosening-genetic-privacy-law-is-a-recipe-for-fear-and-frustration-1061">patient-doctor confidentiality</a>. </p>
<p>But this protection was eroded in December 2010, when <a href="http://www.comlaw.gov.au/Details/F2011C00016">Public Interest Determination 11A</a>, issued under the national Privacy Act, came into effect. Under this determination, it became lawful for a doctor to contact a patient’s relatives, without consent, and advise them of the consequences of the patient’s genetic condition. The doctor must reasonably believe the information is necessary to enable reduction or prevention of a “serious threat to the life, health, or safety of the relative”.</p>
<p>This determination <a href="https://theconversation.com/why-loosening-genetic-privacy-law-is-a-recipe-for-fear-and-frustration-1061">erodes</a> the concept of doctor-patient confidentiality. If a patient’s condition has a genetic component, it effectively permits a doctor to ignore the patient’s wishes and advise relatives of the condition. This may (or may not) benefit the relative but it ignores the patient’s right to privacy.</p>
<h2>Right to autonomy</h2>
<p>Autonomy - the right to self-determination - is a fundamental human right. Without it, humans become means, rather than ends, and are denied their inherent value. They are viewed simply as the units which exist for the utilitarian whole. </p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=750&fit=crop&dpr=1 600w, https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=750&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=750&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=943&fit=crop&dpr=1 754w, https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=943&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/10349/original/g69k32j9-1336097851.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=943&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Doctors can contact a patient’s relatives, without consent, and advise them of the patient’s genetic condition.</span>
<span class="attribution"><span class="source">John Starnes</span></span>
</figcaption>
</figure>
<p>Australian law, and western medical ethics, are both founded on the principle of individual autonomy. This respect for personhood includes the individual’s right to decide how his/her medical information may be collected, used, and disseminated. It doesn’t regard individuals merely as a means to an end, or as objects that can be disregarded on the basis of an assertion of community good.</p>
<p>The trouble with genetic information is it doesn’t just affect the person who is its source; it also provides information about that person’s relatives – past, present, and future. Any decision about the collection, use, and dissemination of an individual’s genetic information may have consequences for relatives who haven’t agreed to share the information and aren’t aware that sharing has taken place. </p>
<h2>When sharing goes wrong</h2>
<p>The <a href="http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml">Human Genome Project</a> is a testimony to human endeavour. Analysis of the genetic information of individuals suffering disease and illness is critical to developing treatments. And the power of such technological advancement is breathtaking. </p>
<p>But while the technology has progressed in leaps and bounds, the social developments that must necessarily accompany technological advancement of this scale, including law reform, have lagged behind. </p>
<p>The ugly side of the benefits of using genetic information to improve our understanding of disease is that it also expands the capacity of humans to make fundamental judgements and discriminate against others. Scenarios for genetic surveillance and discrimination range from the minor – such as a child missing out on a spot on the school football team because they are not genetically athletic – through to discrimination in employment and insurance, and, at the extreme end of the spectrum, <a href="https://theconversation.com/eugenics-in-australia-the-secret-of-melbournes-elite-3350">eugenics</a> (the science of improving race).</p>
<p>Disclosure and sharing of information should be encouraged, but it needs to occur within a principles-based framework, to protect the interests and rights of those alive now, and also those in the future.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/10343/original/77ds2n7n-1336094967.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">All individuals should have the right to decide how their medical information is collected, used, and disseminated.</span>
<span class="attribution"><span class="source">John Wesley Barker</span></span>
</figcaption>
</figure>
<h2>Regulation</h2>
<p>The need for tighter regulation of genetic information has recently been recognised in other jurisdictions, most notably Europe and the United States, driven by the expansion of direct-to-consumer (DTC) <a href="https://theconversation.com/the-1000-genome-map-do-you-really-want-to-know-6341">genetic tests</a>. Consumers send a DNA sample, usually a mouth swab, directly to a laboratory which runs a battery of predictive DNA tests. The consumers pay for that testing and they receive a profile indicating their relative risk of developing certain diseases. </p>
<p>Although frequently marketed as “recreational” genetics – more for entertainment than clinical purposes – profiles can be misunderstood. Some consumers have made clinical decisions based on flawed or weak tests, or inadequate understanding of the results. Other <a href="http://ghr.nlm.nih.gov/handbook/testing/directtoconsumer">issues</a> have arisen when consumers have subsequently discovered that their DNA sample and genetic information have been added to a DNA collection and made available to commercial clients, without their consent. </p>
<p>Traditionally, DTC genetic testing companies have offered their services across borders, via the internet. This presents significant jurisdictional issues for regulators. </p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/10352/original/4dbsgmdd-1336098823.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Patients must understand the potential consequences of sharing their genetic information.</span>
<span class="attribution"><span class="source">laimagendelmundo</span></span>
</figcaption>
</figure>
<p>But a recent attempt to provide <a href="http://abcnews.go.com/Health/Wellness/dna-screening-home-coming-walgreens/story?id=10614580#.T6M8StWDfIU">DTC testing</a> kits over-the-counter in US pharmacies prompted the Food and Drug Administration to review the regulatory arrangements in place and congress to launch an enquiry into the industry. The enquiries have <a href="http://www.fda.gov/NewsEvents/Testimony/ucm219925.htm">uncovered significant concerns</a> about the potential for misuse of genetic information. </p>
<p>The European Union has already <a href="http://ec.europa.eu/justice/data-protection/document/review2012/com_2012_11_en.pdf">moved towards</a> more fundamental protection of genetic privacy, aiming to balance potential conflicts between social and individual needs on the basis of human rights.</p>
<h2>Informed consent</h2>
<p>People have inherent value: they are more than the sum of their DNA sequence. Although altruism in sharing genetic information – for the benefit of your relatives and the benefit of others who are facing disease and illness – should be encouraged, it should never be compelled. It should only occur in the context of informed consent. </p>
<p>Many people have a limited understanding of the ways genetic information is used and might be misused. If this places a greater burden on clinicians and scientists to ensure patients understand the potential consequences of sharing their genetic information, that should be viewed as a necessary part of obtaining the benefits of such information.</p><img src="https://counter.theconversation.com/content/6843/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>Yesterday on The Conversation, Timothy Smith from the Florey Neurosciences Institute argued that in order to improve genetics research, we need free and open access to genetic information. But while the…Wendy Bonython, Assistant Professor, School of Law- Torts, Health and Biotechnology, University of CanberraBruce Baer Arnold, Assistant Professor, School of Law, University of CanberraLicensed as Creative Commons – attribution, no derivatives.