tag:theconversation.com,2011:/us/topics/brca-9774/articlesBRCA – The Conversation2023-09-20T15:34:22Ztag:theconversation.com,2011:article/2136862023-09-20T15:34:22Z2023-09-20T15:34:22ZBreast cancer: new study reveals real risk of the disease if you have genetic mutation<figure><img src="https://images.theconversation.com/files/549088/original/file-20230919-27-avuv5u.jpg?ixlib=rb-1.1.0&rect=0%2C16%2C5463%2C3620&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">There are numerous consumer tests available that look for BRCA gene mutations.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/preparation-blood-test-pretty-young-woman-2147296239">Photoroyalty/ Shutterstock</a></span></figcaption></figure><p>In 2013, actress Angelina Jolie wrote an op-ed where she revealed she’d undergone a double mastectomy. Although Jolie didn’t have breast cancer, a genetic test had revealed she carried a <a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html">genetic mutation</a> that her doctors said put her at an 87% risk of developing breast cancer in her lifetime. Jolie also had a family history of breast cancer, losing her mother, grandmother and aunt to the disease.</p>
<p>Jolie has a genetic mutation to one of her BRCA genes – specifically the BRCA1 gene. We all have BRCA genes, which function as tumour suppressors. These genes are essential for healthy cell survival and cancer prevention. They act to repair our DNA and fix errors that occur due to ageing or environmental exposures (such as tobacco or radiation). </p>
<p>When there’s a defect in these genes, they don’t function as they should. This leaves people at higher risk of <a href="https://bmccancer.biomedcentral.com/articles/10.1186/s12885-023-10956-6">developing breast cancer</a>. According to previous research, mutations in the BRCA1 gene carry an estimated 65-80% lifetime risk of developing breast cancer, while mutations in the BRCA2 gene carry a 45-85% risk of breast cancer.</p>
<p>What followed the publication of Jolie’s testimonial has been dubbed “<a href="https://www.nature.com/articles/s41598-021-82654-x">The Jolie Effect</a>” – a sharp rise in the number of women worldwide undergoing genetic testing and having preventative mastectomies to reduce their risk of breast cancer if they are found to have the BRCA genetic mutation. This increased access to testing has resulted in greater detection of BRCA mutations and has undoubtedly led to life-saving preventative care for many. </p>
<p>But a <a href="https://www.thelancet.com/journals/eclinm/article/PIIS2589-5370(23)00336-X/fulltext#:%7E:text=Penetrance%20to%20age%2060%20was,%2C%20CI%2013.8%E2%80%9323.0">recent study</a> from researchers at the University of Exeter has questioned how useful these tests may be after showing that breast cancer risk from BRCA mutations may not always be as high as once thought.</p>
<h2>BRCA gene</h2>
<p>To conduct their study, investigators looked at a total of 454,712 participants aged 40-69 from the <a href="https://www.ukbiobank.ac.uk/">UK Biobank study</a> (a large-scale health study containing genetic and medical information from half a million UK residents). They identified participants with a BRCA gene mutation, then used the database to ask if they had a family history of breast cancer. </p>
<p>Then, using cancer registry data collected as part of the UK Biobank study, the researchers calculated a person’s risk of developing breast cancer if they had a BRCA gene mutation – both with and without a known family history of breast cancer. </p>
<figure class="align-center ">
<img alt="Angelina Jolie poses on the red carpet." src="https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=482&fit=crop&dpr=1 600w, https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=482&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=482&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=606&fit=crop&dpr=1 754w, https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=606&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/549089/original/file-20230919-17-1oobbp.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=606&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">Angelina Jolie has a BRCA1 gene mutation.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/angelina-jolie-23rd-annual-critics-choice-1045534666">Tinseltown/ Shutterstock</a></span>
</figcaption>
</figure>
<p>The investigators found that while all participants with BRCA gene mutations carried a greater risk of developing breast cancer compared to the general population, this risk was 1.5-1.9 times higher for those with a family history of the disease. </p>
<p>The study also found that risk of breast cancer from the BRCA gene was not as high as previously thought in people without a family history of the disease. Women who only carried the BRCA1 gene variant had a 23% greater risk of developing breast cancer by age 60, while those with the BRCA2 variant had an approximately 18% risk of developing breast cancer before 60. But in women who’d had a close relative develop breast cancer, the BRCA1 variant carried a 45% greater risk of developing the disease before age 60. The BRCA2 variant carried a 24% greater risk.</p>
<p>While this is a significant study with a large number of participants, the relative risk values were generated for cancer diagnosis before the age of 60. Usually, lifetime risk is calculated up to the age of 75. This means we are limited with regard to understanding risk in older people who have these gene mutations.</p>
<h2>Genetic testing</h2>
<p>Being able to access genetic testing is important as it allows each person to better understand their health and make decisions about treatments that will most benefit them. But the choice to undergo risk reduction surgery as a result of genetic testing is not an easy one to make. This study highlights the importance of speaking with your doctor when interpreting the results of these tests before making any decisions.</p>
<p>This study has shown just how important it is to take family history into account when deciding whether or not to have preventative surgery. People with a BRCA1 or BRCA2 gene mutation who have had a close family member develop breast cancer (such as a parent or sibling) may see the greatest benefit from having preventative surgery. Those who do not have a family history of breast cancer may want to talk to their doctor and discuss their risk of developing breast cancer, alongside strategies for monitoring their health into the future.</p><img src="https://counter.theconversation.com/content/213686/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>Family history may be the most important thing to take into account when it comes to breast cancer risk.Aisling Hegarty, PhD Researcher, Endocrine Oncology Research Group, RCSI University of Medicine and Health SciencesLeonie Young, Professor, Department of Surgery, RCSI University of Medicine and Health SciencesLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1572102021-04-15T12:39:17Z2021-04-15T12:39:17ZScientists are on a path to sequencing 1 million human genomes and use big data to unlock genetic secrets<figure><img src="https://images.theconversation.com/files/395117/original/file-20210414-20-1od1b13.png?ixlib=rb-1.1.0&rect=32%2C64%2C3047%2C2349&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A complete human genome, seen here in pairs of chromosomes, offers a wealth of information, but it is hard connect genetics to traits or disease.</span> <span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:UCSC_human_chromosome_colours.png#/media/File:UCSC_human_chromosome_colours.png">HYanWong/Wikimedia Comons</a></span></figcaption></figure><p>The first draft of the human genome was <a href="https://www.washingtonpost.com/archive/politics/2000/06/27/teams-finish-mapping-human-dna/3af9bfcf-e7b6-4ac1-bcdb-f4fc117c19bd/">published 20 years ago</a> in <a href="https://www.genome.gov/25520483/online-education-kit-2001-first-draft-of-the-human-genome-sequence-released">2001</a>, took nearly three years and cost <a href="https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost">between US$500 million and $1 billion</a>. The <a href="https://www.genome.gov/human-genome-project">Human Genome Project</a> has allowed scientists to read, almost end to end, the 3 billion pairs of DNA bases – or “letters” – that biologically define a human being. </p>
<p>That project has allowed a new generation of <a href="https://scholar.google.com/citations?user=Yy8gde8AAAAJ&hl=en&oi=ao">researchers like me</a>, currently a postdoctoral fellow at the National Cancer Institute, to identify <a href="https://doi.org/10.1038/s41586-020-2099-x">novel targets for cancer treatments</a>, engineer <a href="https://doi.org/10.1038/s41590-019-0416-z">mice with human immune systems</a> and even build a <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&lastVirtModeType=default&lastVirtModeExtraState=&virtModeType=default&virtMode=0&nonVirtPosition=&position=chr14%3A95086244%2D95158010&hgsid=1066518897_QJL7hsBNGEhTnw6DgqcZaMG4YFB2">webpage where anyone can navigate the entire human genome</a> with the same ease with which you use Google Maps.</p>
<p>The first complete genome was generated from a handful of anonymous donors to try to produce a reference genome that represented more than just one single individual. But this fell far short of encompassing <a href="https://doi.org/10.1038/nature18964">the wide diversity of human populations in the world</a>. No two people are the same and no two genomes are the same, either. If researchers wanted to understand humanity in all its diversity, it would take sequencing thousands or millions of complete genomes. Now, a project like that is underway. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="A diverse group of people." src="https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=493&fit=crop&dpr=1 600w, https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=493&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=493&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=619&fit=crop&dpr=1 754w, https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=619&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/395378/original/file-20210415-18-fmgye7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=619&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">There is a huge amount of genetic variation between people around the globe.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/group-portrait-of-people-smiling-royalty-free-image/560447233?adppopup=true">Flashpop/DigitalVision via Getty Images</a></span>
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</figure>
<h2>Understanding genetic diversity</h2>
<p>The wealth of genetic variation among people is what makes each person unique. But genetic changes also cause many disorders and make some groups of people more susceptible to certain diseases than others.</p>
<p>Around the time of the Human Genome Project, researchers were also sequencing the complete genomes of organisms such as <a href="https://doi.org/10.1038/nature01262">mice</a>, <a href="https://doi.org/10.1126/science.287.5461.2185">fruit flies</a>, <a href="https://doi.org/10.1126/science.274.5287.546">yeasts</a> and <a href="https://doi.org/10.1038/35048692">some plants</a>. The huge effort made to generate these first genomes led to a revolution in the technology required to read genomes. Thanks to these advances, instead of taking years and costing hundreds of millions of dollars to sequence a whole human genome, it now takes <a href="https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost">a few days and costs merely a thousand dollars</a>. Genome sequencing is very different from genotyping services like 23 and Me or Ancestry, which look at only a tiny fraction of locations in a person’s genome.</p>
<p>Advances in technology have allowed scientists to sequence the complete genomes of thousands of individuals from around the world. Initiatives such as the <a href="https://gnomad.broadinstitute.org/">Genome Aggregation Consortia</a> are currently making efforts to collect and organize this scattered data. So far, that group has been able to gather nearly <a href="https://doi.org/10.1038/s41586-020-03174-8">150,000 genomes</a> that show an incredible amount of human genetic diversity. Within that set, researchers have found more than 241 million differences in people’s genomes, <a href="https://doi.org/10.1038/nature19057">with an average of one variant for every eight base pairs</a>.</p>
<p>Most of these variations are very rare and will have no effect on a person. However, hidden among them are variants with important physiological and medical consequences. For example, certain variants in the BRCA1 gene predispose some groups of woman, like Ashkenazi Jews, to <a href="https://doi.org/10.1038/s41586-018-0461-z">ovarian and breast cancer</a>. Other variants in that gene lead some <a href="https://doi.org/10.1038/s41467-018-06616-0">Nigerian women to experience higher-than-normal mortality</a> from breast cancer. </p>
<p>The best way researchers can identify these types of population-level variants is through <a href="https://www.ebi.ac.uk/gwas/">genomewide association studies</a> that compare the genomes of large groups of people with a control group. But diseases are complicated. An individual’s lifestyle, symptoms and time of onset can vary greatly, and the effect of genetics on many diseases is hard to distinguish. The predictive power of current genomic research is too low to tease out many of these effects because <a href="https://doi.org/10.1038/s41588-018-0313-7">there isn’t enough genomic data</a>.</p>
<p>Understanding the genetics of complex diseases, especially those related to the genetic differences among ethnic groups, is essentially a big data problem. And researchers need more data.</p>
<h2>1,000,000 genomes</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="The double helix DNA structure." src="https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=1038&fit=crop&dpr=1 600w, https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=1038&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=1038&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1304&fit=crop&dpr=1 754w, https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1304&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/395116/original/file-20210414-16-rrcqz1.gif?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1304&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">The link between genetics and disease is nuanced, but the more genomes you can study, the easier it is to find those links.</span>
<span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:DNA_animation.gif#/media/File:DNA_animation.gif">brian0918/Wikimedia Commons</a></span>
</figcaption>
</figure>
<p>To address the need for more data, the National Institutes of Health has started a program called <a href="https://allofus.nih.gov/">All of Us</a>. The project aims to collect genetic information, medical records and health habits from surveys and wearables of more than a million people in the U.S. over the course of 10 years. It also has a goal of gathering more data from underrepresented minority groups to facilitate the study of health disparities. The <a href="https://www.fda.gov/regulatory-information/selected-amendments-fdc-act/21st-century-cures-act">All of Us project</a> opened to public enrollment in 2018, and more than 270,000 people have contributed samples since. The project is continuing to recruit participants from all 50 states. Participating in this effort are many academic laboratories and private companies.</p>
<p>This effort could benefit scientists from a wide range of fields. For instance, a neuroscientist could look for genetic variations associated with depression while taking into account exercise levels. An oncologist could search for variants that correlate with reduced risk of skin cancer while exploring the influence of ethnic background.</p>
<p>A million genomes and the accompanying health and lifestyle information will provide an extraordinary wealth of data that should allow researchers to discover the effects of genetic variation on diseases, not only for individuals, but also within different groups of people.</p>
<p>[<em>Understand new developments in science, health and technology, each week.</em> <a href="https://theconversation.com/us/newsletters/science-editors-picks-71/?utm_source=TCUS&utm_medium=inline-link&utm_campaign=newsletter-text&utm_content=science-understand">Subscribe to The Conversation’s science newsletter</a>.]</p>
<h2>The dark matter of the human genome</h2>
<p>Another benefit of this project is that it will allow scientists to learn about parts of the human genome that are currently very hard to study. Most genetic research has been on the parts of the genome that encode for proteins. However, these represent only <a href="https://dx.doi.org/10.1038%2Fnrd.2018.93">1.5% of the human genome</a>.</p>
<p>My research focuses on RNA – a molecule that turns the messages encoded in a person’s DNA into proteins. However, RNAs that come from the 98.5% of the human genome that doesn’t make proteins have a myriad of functions by themselves. Some of these noncoding RNAs are involved in processes such as <a href="https://doi.org/10.1038/nature08975">how cancer spreads</a>, <a href="https://doi.org/10.1242/dev.146613">embryonic development</a> or <a href="https://doi.org/10.1038/35047580">controlling the X chromosome in females</a>. In particular, I study how genetic variations can influence the intricate folding that allows noncoding RNAs to do their jobs. Since the All of Us project includes all coding and noncoding parts of the genome, it is going to be by far the largest dataset relevant to my work and will hopefully shed light on these mysterious RNAs.</p>
<p>The first human genome sparked 20 years of incredible scientific progress. I think it is almost certain that a huge dataset of genomic variations will unlock clues about complex diseases. Thanks to large-scale population studies and big-data projects such as All of Us, researchers are paving the way to answering, in the next decade, how our individual genetics shape our health.</p>
<p><em>A photo in this story was updated to better represent our editorial guidelines.</em></p><img src="https://counter.theconversation.com/content/157210/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Xavier Bofill De Ros receives funding from the National Institutes of Health (NIH). He is affiliated with ECUSA, an association of Spanish scientists in the USA.</span></em></p>The first full human genome was sequenced 20 years ago. Now, a project is underway to sequence 1 million genomes to better understand the complex relationship between genetics, diversity and disease.Xavier Bofill De Ros, Research Fellow in RNA biology, National Institutes of HealthLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1543732021-03-14T18:53:25Z2021-03-14T18:53:25ZA very special episode: how TV shows can be powerful tools for public health<figure><img src="https://images.theconversation.com/files/384364/original/file-20210216-21-1onvgyo.jpg?ixlib=rb-1.1.0&rect=12%2C0%2C4200%2C2835&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>We all know what we should do. We should eat well and exercise. But then there’s ice cream and alcohol and the couch …</p>
<p>But what if watching TV could actually <a href="https://www.youtube.com/watch?v=JLzXfghGfTg">be good for you</a> — if your favourite TV show could inspire and support you to be healthier? </p>
<p>In 2012, on <a href="https://www.imdb.com/title/tt1225901/">90210</a> (a reboot of the 90s’ <a href="https://www.imdb.com/title/tt0098749/">Beverly Hills, 90210</a>), 18-year-old Erin Silver (Jessica Stroup) was confronted with the choice to test for BRCA gene mutations. Her mother died from breast cancer, and if Erin had a mutation she was at elevated risk of cancer herself.</p>
<p>The show’s creators worked with <a href="https://hollywoodhealthandsociety.org/">Hollywood, Health & Society</a>, an organisation established to provide the entertainment industry with expert information on health, safety and security. </p>
<p>In getting the health information right, 90210 was able to tell a compelling and dramatic story while engaging viewers with their own health.</p>
<p>After the show aired, a study found 12% of female viewers <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084479/">reported</a> scheduling a doctor’s appointment to discuss their breast cancer risk, 13% talked about the BRCA gene with a woman they knew and 17% searched for more information about breast cancer online.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Teen sits next to her mother's hospital bed." src="https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=250&fit=crop&dpr=1 600w, https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=250&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=250&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=314&fit=crop&dpr=1 754w, https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=314&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/384362/original/file-20210216-16-yej3rk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=314&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">After the death of her mother, Silver was forced to confront if she should get tested for the BRCA gene.</span>
<span class="attribution"><span class="source">CW</span></span>
</figcaption>
</figure>
<p>Many non-communicable diseases, such as diabetes, cardiovascular disease and certain cancers can be can be <a href="https://www.aihw.gov.au/reports/burden-of-disease/abds-impact-and-causes-of-illness-death-2011/contents/highlights">prevented by modifying behaviour</a> such as tobacco use, dietary habits and physical activity. But the rise of such diseases shows current methods of health communication are <a href="https://ourworldindata.org/burden-of-disease">inadequate</a>.</p>
<p>Television can not only provide you health information, but can also motivate you to do what’s good for you.</p>
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Read more:
<a href="https://theconversation.com/we-tested-women-and-men-for-breast-cancer-genes-only-18-percent-knew-they-had-it-103717">We tested women and men for breast cancer genes – only 18 percent knew they had it</a>
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<h2>Entertainment can harm</h2>
<p>Entertainment that canvases health issues can lead to misinformation. This can be really harmful.</p>
<p>Mental illness is commonly <a href="https://scholarworks.gvsu.edu/cgi/viewcontent.cgi?article=1036&context=honorsprojects">misrepresented</a> in films and on television, contributing to <a href="https://www.tandfonline.com/doi/full/10.1080/10410236.2011.560787">stigma</a> which can have a profoundly negative impact of the <a href="https://pubmed.ncbi.nlm.nih.gov/23032675/">well-being of people living with mental illness</a>. </p>
<p>A particularly sobering example was seen after the release of <a href="https://www.imdb.com/title/tt1837492/">13 Reasons Why</a>, a Netflix series about the aftermath of a suicide. In the month following the first season release in 2017, the suicide rates in Americans between the ages of 10 and 17 <a href="https://www.jaacap.org/article/S0890-8567(19)30288-6/fulltext?rss=yes">increased 28.9%</a> and remained elevated for a further two months.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="A teen talks into a tape recorder." src="https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/384363/original/file-20210216-21-1547iy9.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">13 Reasons Why was criticised for not following media guidelines.</span>
<span class="attribution"><span class="source">Beth Dubber/Netflix</span></span>
</figcaption>
</figure>
<p>13 Reasons Why was <a href="https://www.smh.com.au/opinion/netflix-needs-to-conform-to-australian-standards-for-streaming-of-13-reasons-why-20170828-gy5kmi.html">criticised</a> for overlooking media guidelines against stories promoting simplistic explanations of suicidal behaviour or depicting suicide as a means of <a href="https://www.jaacap.org/article/S0890-8567(19)30288-6/fulltext?rss=yes">accomplishing a goal</a>. </p>
<p>If the series had followed best practice guidelines in telling this story, the outcomes may not have been so devastating.</p>
<h2>The positive power of narrative</h2>
<p>But entertainment can also have a powerful positive impact on health. </p>
<p>In 2001, Hollywood, Health & Society worked with <a href="https://www.imdb.com/title/tt0092325/?ref_=fn_al_tt_1">The Bold and the Beautiful</a> on a story where Antonio Dominguez (Paulo Benedeti) learned he was HIV positive. An HIV/AIDS hotline was presented at the conclusion of the episode, and <a href="https://learcenter.org/pdf/BBHotline.pdf">calls increased dramatically</a>.</p>
<p>In 2006, the organisation worked with <a href="https://www.imdb.com/title/tt0433309/?ref_=fn_al_tt_1">Numbers</a> on an episode where Charlie Eppes (David Krumholtz) changes his position on organ donation, telling his family he would like to be a donor.</p>
<p>After the episode aired, audiences were found to be more likely to <a href="https://hollywoodhealthandsociety.org/sites/default/files/for-public-health-professionals/research-and-evaluation/cases_1_08.pdf">register as organ donors</a> and <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1460-2466.2008.01408.x">encourage others</a>.</p>
<h2>Confidence in the truth</h2>
<p>In decision making, we naturally give greater weight to narrative evidence than statistical evidence. This is increased in situations of high emotional engagement such as <a href="https://econpapers.repec.org/article/eeejobhdp/v_3a160_3ay_3a2020_3ai_3ac_3ap_3a51-67.htm">related to health</a>. </p>
<p>By embedding health storylines in popular narratives we can reach audiences where they are. But the spread of contested health information has led to <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494502/">growing public scepticism</a>.</p>
<p>It is important to present accurate information in a way that is responsible and adheres to best practice to build audience confidence.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-telling-stories-could-be-a-more-powerful-way-of-convincing-some-people-to-take-a-covid-vaccine-than-just-the-facts-155050">Why telling stories could be a more powerful way of convincing some people to take a COVID vaccine than just the facts</a>
</strong>
</em>
</p>
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<p>While Hollywood, Health & Society does important work in providing information to the entertainment industry, viewers don’t know if this content is trustworthy, and there is no method to ensure stories are told in the most impactful way. </p>
<p>If we had a widely used methodology to guide the development of entertainment produced in partnership between the entertainment industry, health and science experts and consumers to promote health, we could make a big difference.</p>
<p>Scripted television and movies could be the next big thing in health promotion. But we need artists, health experts and audiences working together. </p>
<h2>Creating a road map</h2>
<p>We lack a pathway for health experts, health bodies and people with lived experience to create stories to promote health. </p>
<p>My research team is working on identifying the characteristics of entertainment which can successfully influence health behaviours. This could be having characters key audiences can identify with, and having those characters engage in healthy behaviours related to their well-being. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C6016%2C4016&q=45&auto=format&w=1000&fit=clip"><img alt="Happy young two black women lying down in the couch watching tv" src="https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C6016%2C4016&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=401&fit=crop&dpr=1 600w, https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=401&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=401&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/384359/original/file-20210216-16-33gh7o.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">With a little bit of work, television could be good for you.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
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</figure>
<p>We are establishing a consortium of policy makers, health experts, entertainment industry professionals and audiences to guide the production of entertainment-driven content to promote health. </p>
<p>Television episodes and films produced following this method will be certified as scientifically accurate. When you watch it, you will know the information delivered is trustworthy.</p>
<p>It will be produced using the best knowledge about how to support people to take charge of their health. It will impact attitudes and behaviours that can improve health.</p>
<p>And in this, television will improve lives. </p>
<hr>
<p><em>If this article has raised issues for you or you’re concerned about someone you know, call Lifeline on 13 11 14.</em></p><img src="https://counter.theconversation.com/content/154373/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Michaela Pascoe 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>We know we should exercise more and sit on the couch less … but what if television was actually healthy for you?Michaela Pascoe, Senior Research Fellow in Mental Health, Victoria UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/963982018-05-24T10:27:12Z2018-05-24T10:27:12ZWhat’s in your genome? Parents-to-be want to know<figure><img src="https://images.theconversation.com/files/219102/original/file-20180515-195330-1jqdzyc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/good-looking-african-american-couple-cradles-485118664">By In The Light Photography/shutterstock.com</a></span></figcaption></figure><p>Every parent-to-be wants a healthy baby. And, when offered an opportunity, most couples want to know which disease-causing genes, or risk factors, they carry and could unwittingly pass to their children. </p>
<p>I’m a clinical molecular geneticist and wanted to understand exactly how much do people want to know about their genetic baggage. To address this question, I and a team of clinical geneticists, genetic counselors, laboratory geneticists and researchers screened approximately 200 healthy adults. We looked at 728 genes for disease-causing mutations and variants known to increase the risk of particular conditions. </p>
<p>What makes our tests different is that we are screening for a much larger number of genes and for all types of genetic defects not currently included in most of the clinically available carrier tests you would get from your OB-GYN. This information is critical for couples planning a family. But we discovered that collecting so much more genetic data raises a new set of complex issues that we have to address before such testing could be mainstreamed. </p>
<h2>How much information do you want?</h2>
<p>To prepare the participants for this potentially life-altering information, we provided genetic counseling before the genetic tests and again afterwards, as we gave them the results. Before an individual was tested, counselors asked what types of genetic conditions they wanted to receive. Did they only want to learn if they were carriers for serious life-threatening diseases or milder conditions as well? Did they want to know if they were carriers for diseases that hit in adulthood such as <a href="https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis">hereditary hemochromatosis</a>, an overload of iron in the tissues and organs, or spastic paraplegia, a nervous system disorder that affects walking? And what about unpredictable genetic conditions like <a href="https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia">Factor V Leiden thrombophilia</a>, a blood clotting disorder, or <a href="https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v">McArdle disease</a>, in which the body can’t break down glycogen in muscle cells? </p>
<p>To our surprise, most people, 93 percent, wanted all of their carrier information. Furthermore, 99 percent wanted to know about medically actionable conditions that put them at risk for conditions like breast or colon cancer or a heart muscle condition like cardiomyopathy. This underscores that most individuals feel that access to knowledge empowers them to make informed medical decisions.</p>
<h2>Why test individuals before conception?</h2>
<p>The individuals who participated <a href="https://doi.org/10.1016/j.ajhg.2018.04.004">in our study</a>, which was published in The American Journal of Human Genetics, were not affected by any known genetic condition. But our screening could reveal if a mother and father-to-be both carried a defect in the same gene. This is important information because if the child inherits one bad copy of the gene from each parent, then they suffer the disease. This is what happens in cystic fibrosis. </p>
<p>But with this new comprehensive genetic testing, couples who discovered that they both carried a genetic defect for the same inherited disorder can use this information to make informed reproductive decisions. They could opt for natural conception, prenatal diagnosis, pre-implantation genetic diagnosis, egg or sperm donation, or adoption. </p>
<p>As well as learning about people’s preferences for genetic testing results, we also discovered that most individuals carried between one and five disease-causing variants, which is a version of a gene known to raise the risk of a particular condition. This doesn’t mean that they will develop these diseases, but rather that they simply carry the gene defect and can pass it on to their children. </p>
<p>We also discovered that up to four out of every hundred participants carry a disease-causing variant that we call “medically actionable.” This means that a doctor can use the information to decrease the patient’s risk for disease with medications, or through lifestyle and environmental changes. </p>
<p>For example, we found some participants had a defect in the BRCA1 and BRCA2 genes that substantially increases a person’s risk to develop breast cancer and some other cancers. Knowing this information allows individuals to be closely monitored by medical screening procedures and eligible for potentially preventative treatment such as surgery. It also provides information for relatives who might want testing. </p>
<h2>Should detailed genetic testing be available for everyone?</h2>
<p>What made our study possible was new technology that enables us to sequence an individual’s entire genome – all 3 billion units of DNA – accurately and cheaply. The cost of sequencing alone for research purposes was approximately US$1,000, for each of the 200 participants. However, that did not cover the test interpretation or the genetic counseling costs. Geneticists have also become much better at interpreting the implications of carrying particular genetic variants. </p>
<p>Our test is not currently available to clinics that provide genetic screening services. But together with collaborators at the University of Washington and Kaiser Permanente NW, we studied whether we should offer this new technology to patients in the clinic. </p>
<p>One of the biggest challenges in clinical genome testing is how to determine whether a change in a gene is actually disease-causing or not. For our study we followed the <a href="https://doi.org/10.1038/gim.2015.30">recent guidelines</a> on how to interpret these gene changes from the American College of Medical Genetics and the Association of Molecular Pathology, which proved extremely useful in determining which genetic changes caused disease and which ones did not in this healthy reproductive population. But this information is not yet widely understood by everyday OB-GYN clinics.</p>
<p>Another hurdle is wrangling the enormous amount of data that is generated from the sequence of each individual’s DNA. We haven’t figured out how to read an individual’s entire genetic code and, in the absence of clinical symptoms, interpret the health implications of the thousands of genetic variations. </p>
<p>So we need more clinical knowledge and predictive tools. Returning results in a timely manner – four weeks or less – is challenging but critically important for individuals planning when and whether to have families. </p>
<p>Although we have the ability to sequence a patient’s genome, it isn’t clear that this is something we should do. We need to figure out whether it is useful and ethical to give patients so much information when we can’t say for sure what the health implications will be. </p>
<p>In the long run, we also need to figure out whether this type of testing improves the health of the patient. Finding answers to these questions will require more studies and collaboration with professional genetics societies and opinion leaders. So although this type of screening may be available in the future, there is still much work to be done.</p><img src="https://counter.theconversation.com/content/96398/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Carolyn Sue Richards receives funding from NIH.</span></em></p>We now have the capacity to quickly and cheaply sequence an individual’s genome and scour it for disease-causing genes. But how much, and what type, of information does a parent-to-be want to know?Carolyn Sue Richards, Professor of molecular and medical genetics, Oregon Health & Science UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/938362018-05-14T10:37:24Z2018-05-14T10:37:24ZRecreational ancestry DNA testing may reveal more than consumers bargained for<figure><img src="https://images.theconversation.com/files/218469/original/file-20180510-185500-1ha7dfe.jpg?ixlib=rb-1.1.0&rect=123%2C89%2C2327%2C1571&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">It all begins with spitting in a tube like this one.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/laughingsquid/6147462144">Scott Beale/Laughing Squid</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span></figcaption></figure><p>Aggressive marketing techniques and the popularization of “gifting” recreational ancestry tests has led more consumers than ever to the world of personal genetic testing. Yet, the recent arrest of the Golden State Killer suspect has heightened concerns about privacy and ethics because of the way law enforcement <a href="https://arstechnica.com/tech-policy/2018/04/gedmatch-a-tiny-dna-analysis-firm-was-key-for-golden-state-killer-case/">used a third-party DNA interpretation company</a> to identify close relatives and hone in on a likely culprit. </p>
<p><a href="https://sites.google.com/site/interpretyourgenome/home/using-gedmatch">The company, GEDmatch,</a> is well-known among genetic genealogy enthusiasts. When consumers want to learn more about their relatives than previously revealed by commercial testing companies such as AncestryDNA or 23andMe, they can seek out third-party companies like this one for further interpretation of their DNA results.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=753&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=753&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=753&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=946&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=946&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218506/original/file-20180510-34015-izafar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=946&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Genetic genealogy companies mostly stick to ancestry information – but the raw DNA data they provide contains much more.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/wilmington-delaware-usa-april-25-2018-1077238559">Khairil Azhar Junos/Shutterstock.com</a></span>
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<p>But, in addition to clues about where your ancestors were from, DNA holds information about your own medical risks. Here, at the intersection of recreational genetic genealogy and personal health information, is where direct-to-consumer companies are generating some unintended spillover effects that can have personal consequences consumers may not be prepared for. </p>
<p>I approach this area from the medical side. <a href="https://scholar.google.com/citations?user=PMv5G4sAAAAJ&hl=en&oi=ao">My own work focuses</a> on how people use genomic information for personal health benefits. In particular, I’ve looked at when and how people decide to undergo genetic testing, and how they understand and cope with their results. </p>
<p>The rise of direct-to-consumer genetic testing has led to a sometimes dodgy do-it-youself world of genetics. It may provide access to personal genetic information for the masses, but in many cases, individuals aren’t fully aware of all they may find out, or how their data may be used.</p>
<h2>When genealogy interest leads to a health scare</h2>
<p>My interest in the unintended consequences of genealogy exploration started a few years back with a patient who sought help in interpreting data she received from a third-party company that suggested she was at increased genetic risk for breast cancer. Concern over what had been identified in the interpretation report ultimately led this patient to see a genetic counselor – a trained professional who can advise on the genetic risks for various diseases. The counselor eventually determined the result was nothing that warranted concern. This “false positive” case raised red flags for me. </p>
<p>I interviewed this patient to learn more about why she’d used this company (that I had never heard about previously) to learn about her breast cancer risk. It turned out she’d stumbled into the area of genetic testing for health risks due to an interest in genealogy. While watching Henry Louis Gates’ PBS show “<a href="http://www.pbs.org/weta/finding-your-roots/home/">Finding Your Roots</a>,” she saw an ad for one of the commercial direct-to-consumer companies that offered ancestry testing. </p>
<p>Once the patient learned her ancestry results, she also realized that an entire world had opened up in terms of other possible nuggets of information she could discover from her “raw” DNA data. So she purchased access to a third-party health app to interpret her raw DNA. It was these results – provided without consultation with a medical professional – which then led her to clinic. </p>
<p>Currently, there are <a href="https://thegeneticgenealogist.com/2013/09/22/what-else-can-i-do-with-my-dna-test-results/">many of these third-party apps or online services</a> available to consumers. They’re not regulated by the Food and Drug Administration since, as argued by the companies behind them, they just serve as a “<a href="https://doi.org/10.1007/s10897-018-0217-9">bridge to the literature</a>” and only provide access to the scientific evidence base.</p>
<h2>Wild West of raw DNA uploads</h2>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=493&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=493&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=493&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=620&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=620&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218474/original/file-20180510-34038-1enhkew.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=620&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Consumers can build chromosome maps of inheritance by uploading family members’ raw DNA to third-party apps.</span>
<span class="attribution"><a class="source" href="https://www.flickr.com/photos/hamsters/9453821627">Miss Shari</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span>
</figcaption>
</figure>
<p>My colleagues and I <a href="https://doi.org/10.1002/mgg3.340">surveyed customers of these third-party companies</a> to learn more about their motives for exploring the raw DNA data they’d received from commercial testing companies. Approximately two-thirds of consumers we surveyed were highly motivated to explore raw DNA for ancestral details. Forty percent were interested in both ancestry and health information.</p>
<p>Sixty-two percent of our respondents used GEDmatch, highlighting the extent to which DNA data that are heavily protected by companies such as <a href="https://www.ancestry.com/cs/legal/privacystatement">AncestryDNA</a> and <a href="https://www.23andme.com/about/privacy/">23andMe</a> are unguarded by consumers themselves. Many choose to freely upload that data in hopes of finding other relatives. Notably, almost three-quarters of consumers reported using more than one third-party company to interpret their DNA. </p>
<p>Some might argue these tools provide a beneficial service for consumers, particularly when it comes to learning more about their health risks. In cases where genetic risks are determined via clinically validated tests, it can be empowering. <a href="https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html">Angelina Jolie</a> is the perfect example.</p>
<p>Yet, the validity of genetic tests that consumers have direct access to remains questionable. In fact, a recent article by scientists at one of the clinical testing labs that medical providers rely on reported that <a href="https://doi.org/10.1038/gim.2018.38">approximately 40 percent of results</a> reported from raw DNA interpretation were incorrect. Thus, 4 out of 10 people are told they have a greater risk for a disease, when they do not. That’s an exceedingly high number of individuals to stress out with a false positive result. </p>
<p>My ongoing work has found that “worry” is the primary driver for patients to seek out medical assistance in raw DNA interpretation. As such, this false positive rate has a notable downstream burden on the healthcare system.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=372&fit=crop&dpr=1 600w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=372&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=372&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=467&fit=crop&dpr=1 754w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=467&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/218507/original/file-20180510-34038-14wzhar.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=467&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Genetic counselors have professional training in interpreting DNA test results and advising patients.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/professional-business-meeting-young-couple-customers-263174351">Jeanette Dietl/Shutterstock.com</a></span>
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</figure>
<p>Social media sites like Reddit are filled with examples of consumers who are confused about how to interpret the reports generated from some of these third-party companies, which vary greatly in clarity and quality. Or, they have learned from a report they might have a BRCA variant that might confer high risk for breast and ovarian cancer, and ask other site users for help in understanding whether their result is real. It doesn’t have to be this way; there are genetic counselors who specialize in interpreting these kinds of results and helping patients figure out what to do. </p>
<p>Genetic counselors, meanwhile, are frustrated. The message from commercial testing companies has led to unrealistic expectations from consumers about what they can learn about themselves. It’s challenging for <a href="https://doi.org/10.1093/tbm/ibx009">counselors to correct misconceptions</a>, especially when they are met with resistance from patients.</p>
<h2>The gift of DNA knowledge?</h2>
<p>2017 was the year <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">commercial direct-to-consumer testing exploded</a>. 2018 may be the year users rethink the value of this gift, or at least how to use it. Once the genie is out of the bottle, it isn’t going back. The Golden State Killer arrest is only highlighting that the ramifications of genetic genealogy and widespread use of third-party DNA sites are broader than consumers could have ever anticipated.</p><img src="https://counter.theconversation.com/content/93836/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Catharine Wang receives funding from the National Human Genome Research Institute. </span></em></p>More people are sending off saliva samples to find out about their genetic roots. But the raw DNA results go way beyond genealogical data – and could deliver unintended consequences.Catharine Wang, Associate Professor of Community Health Sciences, Boston UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/925042018-04-04T20:03:37Z2018-04-04T20:03:37ZFive things to consider before ordering an online DNA test<figure><img src="https://images.theconversation.com/files/213081/original/file-20180404-189824-p1u05b.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">DNA testing has its risks, including that you don't know who will own your genetic data.</span> <span class="attribution"><a class="source" href="https://unsplash.com/photos/Skf7HxARcoc">Photo by Markus Spiske on Unsplash</a></span></figcaption></figure><p>You might be intrigued by what your genes could tell you about <a href="http://www.sciencemag.org/news/2014/12/genetic-study-reveals-surprising-ancestry-many-americans">your ancestry</a> or the <a href="https://www.nbcnews.com/health/health-news/fda-approves-23andme-s-home-dna-tests-10-diseases-n743416">health risks</a> hidden in your DNA. If so, you’re not alone. </p>
<p>Fascination with personal genetics is fuelling an explosion of online DNA testing. More than <a href="https://www.technologyreview.com/s/610233/2017-was-the-year-consumer-dna-testing-blew-up/">12 million people</a> have been tested – 7 million through ancestry.com alone. Amazon reported the 23andMe online DNA test kit as one of its <a href="https://www.businessinsider.com.au/amazon-top-selling-items-on-black-friday-2017-11?r=US&IR=T">top five best-selling items</a> on Black Friday in 2017. </p>
<p>But while online genetic testing can be interesting and fun, it has risks. Here are five things to keep in mind if you’re considering spitting in a tube.</p>
<h2>1. Understand the limits of what’s possible</h2>
<p>Keep in mind the evidence behind claims a DNA testing company makes. Some companies list the science that backs up their claims, but many don’t. </p>
<p>DNA testing can be used to tell your ancestry and family relatedness quite accurately, but companies claiming to predict <a href="https://vinome.com/">wine preferences</a> or children’s <a href="https://www.soccergenomics.com/">soccer prowess</a> from DNA are in the realm of fantasy. </p>
<p>There is also a <a href="https://www.frontiersin.org/articles/10.3389/fpubh.2018.00024/full">lack of regulation</a> on this issue to protect consumers.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=398&fit=crop&dpr=1 600w, https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=398&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=398&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=501&fit=crop&dpr=1 754w, https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=501&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/213079/original/file-20180404-189795-1kib4em.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"></a>
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<span class="caption">Genetic testing products like 23andMe are exploding in popularity.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
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<h2>2. Make sure you’re prepared for the information</h2>
<p>Genetics can tell us many things, some of which we may not be prepared for. You may go in looking for information on your ancestry, but could find out about <a href="https://www.tandfonline.com/doi/abs/10.1080/14647273.2017.1339127">unexpected paternity</a>. Or you might discover you’re at risk of certain diseases. Some of these have no cure, like <a href="https://www.theguardian.com/science/2017/aug/26/alzheimers-disease-shock-for-genetic-ancestry-hunters">Alzheimer’s disease</a>, which could only leave you distressed. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/genetic-testing-isnt-a-crystal-ball-for-your-health-66906">Genetic testing isn't a crystal ball for your health</a>
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<p>Some products can test for genetic changes in the <a href="https://www.usatoday.com/story/news/2018/03/07/when-comes-home-cancer-tests-think-before-you-spit/404864002/">BRCA genes</a> that put you at risk of breast and ovarian cancers. Other <a href="https://promethease.com/">online genetic interpretation tools</a> can take raw data from ancestry DNA tests and, for a small payment, provide a wide range of disease risk estimates, many of which have been <a href="https://www.technologyreview.com/s/608313/a-dna-app-store-is-here-but-proceed-with-caution/">brought into question by the scientific community</a>. </p>
<p>Think carefully about whether you really want to know all this information, and whether it’s valid, before you proceed. </p>
<h2>3. Consider the medical follow-up you might need</h2>
<p>If something serious is discovered in your genes, you might need the results to be professionally interpreted, or to have genetic counselling to come to terms with what you’ve learnt.</p>
<p>Some genetic information can be <a href="https://www.ncbi.nlm.nih.gov/pubmed/29134551">complex and difficult to interpret</a>, and have medical implications for you and your family. Relying on the internet for interpretation is not advised.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/a-little-bit-of-knowledge-the-perils-of-genetic-tests-for-alzheimers-disease-3994">A little bit of knowledge: the perils of genetic tests for Alzheimer's disease</a>
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<p>Does the DNA testing company offer any counselling or medical services? If not, are you hoping your GP or genetics clinic will provide this? You might find GPs are not adequately trained to understand DNA results, and public genetics services have very long waiting lists. This means you might be left on tenterhooks with a potentially distressing result.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/213083/original/file-20180404-189813-5v2c6u.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Before you spit into a tube, be prepared for what you might discover.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<h2>4. Think how the results may affect your insurance</h2>
<p>In Australia, private health insurance can’t be influenced by genetic test results. But life insurance companies can use genetic test results to <a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">discriminate against applicants</a>, with little consumer protection. All genetic test results known to an applicant at the time of a life insurance application must be disclosed if requested, including internet-based test results. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">Australians can be denied life insurance based on genetic test results, and there is little protection</a>
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<p>Once you have a result that indicates increased risk of disease, the life insurance company may use this against you (by increasing premiums, for instance), even if the scientific evidence isn’t solid. This applies to life, income protection, disability and even travel insurance.</p>
<h2>5. Consider who will have access to your DNA and data</h2>
<p>Some online genetic testing companies <a href="https://www.nature.com/articles/gim2016136">don’t comply</a> with international guidelines on privacy, confidentiality and use of genetic data. Many online testing companies retain DNA samples indefinitely. Consumers can request samples be destroyed, but sometimes <a href="https://www.forbes.com/sites/realspin/2017/02/15/the-privacy-delusions-of-genetic-testing/2/#24dcbfe689c8">have difficulties</a> with this. </p>
<p>Some online testing companies have been accused of selling access to databases of genetic information to third parties, potentially without the knowledge of donors. You might have to plough through the fine print to find out what you have consented to.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/take-an-online-dna-test-and-you-could-be-revealing-far-more-than-you-realise-52734">Take an online DNA test and you could be revealing far more than you realise</a>
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<p>In many ways, it is wonderful we now have access to our personal DNA code. However, as always, understanding the limitations and risks of fast-moving medical technology is very important.</p><img src="https://counter.theconversation.com/content/92504/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>Online genetic testing promises many things. Some are the stuff of fantasy, while others, even if scientifically feasible, still carry risks. Consider these five things before ordering a test.Jane Tiller, Ethical, Legal & Social Adviser - Public Health Genomics, Monash UniversityPaul Lacaze, Head, Public Health Genomics Program, Monash UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/421562015-08-19T10:05:26Z2015-08-19T10:05:26ZOur obsession with hereditary cancers didn’t start when we discovered the breast cancer gene<figure><img src="https://images.theconversation.com/files/87058/original/image-20150701-27131-1bd895l.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">RTR TDGQ</span> </figcaption></figure><p>Angelina Jolie received much public attention for her decisions to undergo first a prophylactic double mastectomy and, later, prophylactic surgery to remove her ovaries and fallopian tubes.</p>
<p>The procedures were Jolie’s response to learning she had the BRCA 1 gene mutation, which predisposes women to a higher-than-average cancer risk. </p>
<p>She <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html">framed her choices</a> within her family history (her mother died from cancer at 56), her own disease risk and her motivation to stay healthy for her children.</p>
<p>Featured on Time’s May 27 2013 cover, titled “<a href="http://healthland.time.com/2013/05/15/the-angelina-effect-times-new-cover-image-revealed/">The Angelina Effect</a>,” the actress was celebrated for promoting awareness about the connection between genetics, risk and health to the extent that doctors anticipated being overwhelmed by a “stampede of women” requesting genetic testing for their BRCA status. </p>
<p>The discovery of the BRCA genes (and the resulting genetic tests) in the early 1990s is often touted as the watershed moment when genetics and heredity became important to cancer. This is not, however, the case. </p>
<p>We did not suddenly recognize that some cancers are hereditary once we could test for gene mutations. </p>
<p>Looking back at this history shows how scientists and the public tried to understand hereditary cancer risk well before we had the technology to discover mutations and test for genetic disorders. This history also demonstrates that the experience of hereditary disease and genetic testing is deeply gendered, affecting women and their reproductive choices.</p>
<h2>Understanding hereditary cancer – a brief history</h2>
<p>BRCA mutations account for <a href="http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet">5%-10% of all breast cancers</a> – yet discussion about cancer and risk have been, and continue to be, profoundly shaped by genetics. </p>
<p>But researchers had identified that some cancers, like breast cancer, could be hereditary as far back as the early 20th century. </p>
<p>In the 1910s, the Eugenics Record Office, headed by Charles Benedict Davenport, conducted research on hereditary cancers, collecting information on “cancer families” through pedigree charts and detailed medical histories. </p>
<p>Back then, people wanted to know about hereditary cancers for the same reason people might want to be tested for the BRCA mutation today – to understand their own risk and to make decisions about when or if to have children.</p>
<p>We can see this reflected in letters doctors wrote to the Journal of the American Medical Association in the 1930s. One doctor asked how to counsel “a young married couple with regards to their bearing of children in view of [their] cancer history.” Another, inquiring for his patients, wondered whether any tests or examinations existed that could predict cancer in a given family.</p>
<p>In 1958, Sheldon Reed, V Elving Anderson and Harold O Goodman, all researchers at the Dight Institute for Human Genetics at the University of Minnesota, published Variables Related to Human Breast Cancer. The book was a result of a 13-year inquiry into familial clustering of the disease. They <a href="https://books.google.com/books?isbn=081666829">concluded that</a>:</p>
<blockquote>
<p>“mothers, sisters, and daughters of breast cancer patients have a risk of developing breast cancer which is about twice that of other women of the same age.”</p>
</blockquote>
<p>Reed, Anderson and Goodman counseled “at risk” women to consult their physicians for frequent breast exams and for surveillance of “subclinical or pre-pathological signs” in order to catch cancer in its “pre-disease” state. This concept of “pre-cancer” struck a chord with many. Americans concerned about their health (and women in particular) contacted the institute for risk estimates and genetic counseling based on their family history. This may sound familiar to many women today. </p>
<p>By the 1960s, Henry T Lynch, the “father of cancer genetics,” popularized the importance of heredity to cancer control and prevention efforts. He created a system of predisease detection for people at risk for hereditary cancers to help them make proactive health decisions. Lynch suggested that women should be taught to perform a breast self-exam and seek annual mammograms. Knowing’s one’s risk, he estimated, promoted vigilant surveillance and early diagnosis, maximizing women’s sense of control over their health and management options. </p>
<p>In all these examples, you may notice a pattern: women (with the help of researchers) were seeking ways to understand and mitigate their cancer risk in order to control their personal and familial futures. We see the same pattern reflected with genetic testing today. Whether for cancer or for other health issues, it has become largely a women’s issue.</p>
<h2>Genetic testing and women</h2>
<p>For decades, scholars have analyzed how <a href="http://heinonline.org/HOL/LandingPage?handle=hein.journals/amlmed17&div=8&id=&page=">genetic tests</a> like <a href="https://books.google.com/books?isbn=0393309983">amniocentesis</a> and <a href="https://books.google.com/books?id=xREfG-4UGsQC&printsec=frontcover&dq=isbn:1135963916&hl=en&sa=X&ei=-bORVevBEsf3-QHd1ILQBg&ved=0CB4Q6AEwAA#v=onepage&q&f=false">chorionic villus sampling</a> (CVS), as well as technologies like in vitro fertilization, have affected <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1508970/pdf/amjph00011-0035.pdf">women’s reproductive choices</a>.</p>
<p>Genetic testing for BRCA prompts us to revisit some of the central questions these scholars raise. How are women’s reproductive choices influenced by the prospect of a disease like breast cancer that appears in adulthood? </p>
<p>As genetics becomes <em>the</em> paradigm for understanding disease, how does it affect how women think of their reproductive options? How does thinking in terms of genetic risk affect women’s psychological and emotional well-being, and how they conceptualize their family life?</p>
<p>BRCA testing also asks us to consider a larger problem in women’s health history: the tendency to think of disease solely in terms of personal risk. Considering environmental health risks helps us to think more about collective impacts and responsibilities. But genomic medicine tends to emphasize uniquely personal risk factors.</p>
<p>This emphasis on personal risk may lead us to ignore the wider range of social and familial factors that affect how women interpret their health status and experience genetic disease. </p>
<p>We risk thinking about genetics as destiny, as though it is only hereditary risk factors that matter. Taken to the extreme, that might mean deemphasizing important nongenetic measures that have curbed cancer risks for decades. </p>
<p>Pap smears, mammograms, prophylactic medications and other public health initiatives have all helped increase early detection of cancers. The predisease infrastructure erected with the help of post-WWII geneticists like Reed and Lynch is now being overshadowed by predictive technologies of the “new” genetics. </p>
<p>Women’s experiences with health, illness and living “at risk” serve as grounds for debating social values around motherhood, reproductive rights, and concepts of disability and disease. BRCA is not the first platform for debating these issues, nor will it be the last.</p><img src="https://counter.theconversation.com/content/42156/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Devon Stillwell holds a postdoctoral fellowship at Johns Hopkins University in the Department of the History of Medicine funded by SSHRC (Social Sciences and Humanities Research Council). </span></em></p>History shows how scientists and the public tried to understand hereditary cancer risk well before we had the technology to discover mutations and test for genetic disorders.Devon Stillwell, Postdoctoral Fellow, History of Medicine, Johns Hopkins UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/434102015-06-19T05:33:51Z2015-06-19T05:33:51ZRemind me again, how can companies patent breast cancer genes?<figure><img src="https://images.theconversation.com/files/85667/original/image-20150619-32092-16cx1uj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Australia's Federal Court last year rejected Ms D'Arcy's appeal and ruled companies could patent genes they isolated. </span> <span class="attribution"><a class="source" href="http://one.aap.com.au/">Dan Peled/Shutterstock</a></span></figcaption></figure><p>This week cancer survivor Yvonne D’Arcy had another day in court in her case against a US company’s patent on cancer genes. </p>
<p>Myriad Genetics was granted a patent in 1995 for isolating hereditary mutations to the BRCA1 and BRCA2 genes, which increase the carrier’s risk of developing breast and ovarian cancer. </p>
<p>Australia’s Federal Court <a href="https://theconversation.com/australian-federal-court-upholds-gene-patents-31350">last year rejected</a> Ms D'Arcy’s appeal and ruled the patent was valid because the method of isolating the genes was an invention. </p>
<p>The High Court challenge is the last resort for Ms D'Arcy’s test case against companies patenting human genes and has implications for patients, clinicans and researchers’ access to genetic information. </p>
<h2>What are these three claims about?</h2>
<p>D’Arcy argues the full Federal Court of Australia is wrong to uphold the validity of three of the 30 claims in <a href="http://pericles.ipaustralia.gov.au/ols/auspat/applicationDetails.do?applicationNo=1995033212">Australian Patent 686004</a>. A “claim” defines the legal boundary of an “invention”, much like a certificate of title defines the legal boundary to a piece of land.</p>
<p>Each claim defines the “invention” to be human DNA in an “isolated” form. Isolated means that the human DNA has been removed from the human genome or has been made outside of it. Human DNA is further defined by reference to specific genetic sequences that correspond identically to the genetic sequences of mutations in the BRCA1 human gene.</p>
<p>The BRCA1 gene is a normal human gene that plays a critical role in controlling certain types of cancers, such as breast and ovarian cancers. </p>
<p>The mutations to the BRCA1 gene identified in the claims prevent this gene from performing that role effectively. The mutations specified in the “claims” are linked to much higher incidence of breast and ovarian cancers in women who have a family history of these cancers.</p>
<h2>Why is this case before the High Court?</h2>
<p>The High Court is the final court of appeal, but the right to an appeal is not automatic. Special leave is required. Its decision is binding on all courts in Australia, although the Australian Parliament can overrule any High Court decision by legislation.</p>
<p>Anyone can challenge an Australian patent in whole or in part. In the first instance, <a href="http://www.austlii.edu.au/au/cases/cth/FCA/2013/65.html">Justice John Nicholas</a> upheld the validity of these claims in 2013. So did the <a href="http://www.austlii.edu.au/au/cases/cth/FCAFC/2014/115.html">full Federal Court</a> in 2014. In February, Ms D’Arcy successfully applied for <a href="http://www.austlii.edu.au/au/other/HCATrans/2015/12.html">special leave to appeal to the High Court</a>.</p>
<p>Ms D’Arcy argues that the subject matter of the three claims are not “inventions” and therefore are not “patentable inventions” pursuant to Section 18(1)(a) of the Patents Act 1990. This provision, which has been part of Australian patent law since the Patents Act 1903, mandates that a patent monopoly must only be granted if:</p>
<blockquote>
<p>the invention, so far as claimed in any claim … is a manner of manufacture within the full meaning of section 6 of the Statute of Monopolies including the proviso … </p>
</blockquote>
<p>Relying on a 1959 decision of the High Court in <a href="http://www.austlii.edu.au/au/cases/cth/HCA/1959/67.html">National Research Development Corporation v The Commissioner of Patents</a> (NRDC) the full Federal Court held that the isolated DNA molecules are inventions because they are an “artificial state of affairs that has some discernible effect”.</p>
<p>The NRDC decision is the leading decision on the issue in Australia. The Federal Court is bound to follow it. The High Court is not; it can review any of its decisions by either overruling, qualifying or explaining them.</p>
<h2>What are the implications?</h2>
<p>The first is consistency with patent law in other countries. In June 2013 the United States Supreme Court unanimously held that the corresponding US patent claims to the same “invention” were invalid under US patent law. It did on the basis that the subject matter of the claims did not display “markedly different characteristics from any found in nature.” </p>
<p>It held:</p>
<blockquote>
<p>… Myriad did not create or alter any of the information encoded in the BRCA1 and BRCA2 genes … </p>
</blockquote>
<p>The Supreme Court overruled two US Federal Circuit decisions over the same patent claims. It also terminated a 30-year practice of the US Patent and Trademark Office.</p>
<p>Second, it may restrict the use of genetic information. Patent monopolies are restrictive in that they provide the patent owner with the exclusive right to operate within their intellectual property boundary for a 20-year period. Patents over isolated genes can unfairly and improperly prevent others, such as doctors, from making use of genetic information for medical applications, such as in diagnostic tests used by clinicians.</p>
<p>Third, it may impact on innovation and research funding. Patents cannot be ignored. They provide the owners with considerable legal rights of redress if patent rights are violated. Accordingly, any violation, including non-commercial use, even by doctors or clinicians for legitimate medical purposes, is subject to legal action in the Federal Court. The patent owner is entitled to damages or an account of profits.</p>
<p>Gene patents create a real and expensive obstacle to innovators. Innovators are forced to invent or negotiate around patented subject matter. This means that scarce and limited research funds that could be used for primary medical research, are increasingly being directed to dealing with the plethora of gene patents. The beneficiaries are patent lawyers and patent owners.</p>
<p>Fourth, it may affect the cost of access to genetic information. In the US, where Myriad did enforce its patent monopoly over BRCA1 and BRCA2 genetic mutations, the cost to women of a full genetic screening was around US$4,000. And Myriad did not share the genetic information it collected with other clinicians or researchers.</p>
<p>We now await the High Court’s decision on the appeal, which is unlikely to be handed down before September.</p><img src="https://counter.theconversation.com/content/43410/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Luigi Palombi does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>The High Court challenge is the last resort for Ms D'Arcy’s test case against companies patenting human genes and has implications for patients, clinicians and researchers.Luigi Palombi, Adjunct Professor , Murdoch UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/407662015-04-27T02:15:30Z2015-04-27T02:15:30ZWorld’s first genetically modified human embryo raises ethical concerns<figure><img src="https://images.theconversation.com/files/79385/original/image-20150427-23936-1e23fjj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The genetic modification of humans make many people feel very uncomfortable.</span> <span class="attribution"><span class="source">Tatiana Vdb/Manuel/Flickr</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>It all started with a <a href="http://www.technologyreview.com/featuredstory/535661/engineering-the-perfect-baby/">rumour</a>. Then just six weeks ago, a warning rang out in the scientific journal <a href="http://www.nature.com/news/don-t-edit-the-human-germ-line-1.17111">Nature</a>, expressing “grave concerns regarding the ethical and safety implications” of creating the world’s first genetically-modified human embryo. </p>
<p>Then last week, a Chinese group from Sun Yat-sen University, reported that they had, in fact, done it: they had created the <a href="http://link.springer.com/article/10.1007%2Fs13238-015-0153-5">first genetically-modified human embryo</a>.</p>
<p>They reported that, in a world first, they had taken “human tripronuclear embryos”, and altered mutant DNA that causes the human disease <a href="http://ghr.nlm.nih.gov/condition/beta-thalassemia">β-thalassemia</a>, which is life-threatening and affects 100,000 people worldwide.</p>
<p>But one person’s stern warning is another’s delight. The promise of technologies like this – to cure diseases like cystic fibrosis or Huntington’s, or even to remove the <a href="https://theconversation.com/au/topics/brca">BRCA mutation</a>, which dramatically increases a woman’s risk of dying from breast or ovarian cancer – have been exciting biologists for years.</p>
<h2>Cut and paste</h2>
<p>So what exactly did the Chinese researchers do? And why has it caused such an uproar? </p>
<p>First, the experiments were performed on human embryos. The researchers collected non-viable embryos from IVF clinics. Then they used this non-viability argument as the ethical justification for performing the work. Scientists know that the embryos were not capable of resulting in a human life, because they were tripronuclear. That means one egg had been fertilised by two sperm, a biological situation we know cannot result a live baby. </p>
<p>Into these embryos, the scientists injected “molecular scissors”, known as the <a href="https://www.neb.com/tools-and-resources/feature-articles/crispr-cas9-and-targeted-genome-editing-a-new-era-in-molecular-biology">CRISPR/Cas9</a> system, which can target a specific segment of DNA. </p>
<p>In this case, they targeted the HBB gene, which causes β-thalassemia. They then cut out the disease-causing region and replaced it, almost as simply as you may cut and paste in a word-processing document.</p>
<p>But it wasn’t quite that clean and simple. The researchers reported “off target effects” and “mosaicism”. This means the editing sometimes occurred at the wrong place in the DNA and that it wasn’t occurring in all embryos equally. There were many mistakes, which they could not have predicted. </p>
<h2>Made to order?</h2>
<p>This raises at least two issues. The first is the ethical issue surrounding the use of human embryos for scientific research, and associated concerns around creating designer babies. The second is the fact that this editing went so wrong in so many embryos. </p>
<p>Without total control of the DNA editing process, the outcome for a baby born from a technology like this one is completely unknown. </p>
<p>This unpredictability and uncertainty means the promise of eliminating certain diseases by editing the DNA of embryos is likely to be a very long way off. There is also the issue of testing whether the technology is safe. </p>
<p>The notion of testing the technology on a live human baby is problematic indeed. Should a scientific research ethics committee ever agree to let this research be performed?</p>
<p>Fortunately, in Australia, all research performed on human embryos is tightly regulated by the <a href="https://www.nhmrc.gov.au/about/nhmrc-committees/embryo-research-licensing-committee">NHMRC</a>, which prohibits human cloning as well as many other technologies, and enforces strong penalties for non-compliance. This means that, for the foreseeable future, this type of research is very unlikely in Australia. </p>
<p>While the scientific world is divided as to the possibilities for this technology in embryos, including the reality of preventing or curing disease, there is consensus that this research must proceed with extreme caution.</p><img src="https://counter.theconversation.com/content/40766/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Dr Hannah Brown is a researcher at the Robinson Research Institute, the School of Paediatrics and Reproductive Health at the University of Adelaide and the ARC Centre of Excellence for Nanoscale BioPhotonics. Her research, funded by the NHMRC and ARC focuses on the earliest stages of embryo development, and more specifically, how the first 5 days of life establish the trajectory for that embryo through into adulthood.</span></em></p>The first case of genetically engineering a human embryo to cure a congenital disease is a technical breakthrough but raises troubling ethical questions.Hannah Brown, Post-doctoral Fellow; Reproductive Epigenetics, University of AdelaideLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/376322015-02-17T00:15:44Z2015-02-17T00:15:44ZGene patents may sound scary but soon they may no longer matter<figure><img src="https://images.theconversation.com/files/72198/original/image-20150217-4573-i71zpz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Challenges to the patents for BRCA mutation tests in Australia and the United States resulted in opposing conclusions.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/christianacare/6332853828/in/photolist-aDBwNY-aDB7U7-aDx8Ur-aDxJMZ-aDB9gL-aDBVvU-aDxmuk-aDxStF-aDxkyk-aDBa1u-aDBkDq-aDxjWx-aDyayF-aDxUhK-aDBShu-aDxxft-aDBUoU-aDxWV8-aDBGSf-aDBom1-aDBHVS-aDBFL3-aDxYPD-aDBak7-aDBCC9-aDxHMR-aDBHpo-aDxFZt-aDxoE8-aDxKrx-aDBc7U-aDy5Xe-aDBLr5-aDBYRy-aDBWuy-aDxxQc-aDxvFR-aDxPa4-eES1EY-eEKTTn-i2nSi5-i2ou66-i2nFpJ-i2otEX-i2otSa-i2nuVB-i2otBR-jA2pb5-i2oxan-i2otDz">Christiana Care/Flickr</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-sa/4.0/">CC BY-NC-SA</a></span></figcaption></figure><p>Recent cases in Australia and the United States and a new case in Canada show how controversial the subject of gene patents is. But technological advances and the cost of patenting may soon mean gene patents no longer matter.</p>
<p>On February 13, 2015, the High Court of Australia <a href="http://www.mauriceblackburn.com.au/about/media-centre/media-statements/2015/high-court-to-hear-breast-cancer-gene-patent-case/">granted special leave</a> to hear an appeal against the Federal Court decision in <a href="http://www.austlii.edu.au/au/cases/cth/FCAFC/2014/115.html">D'Arcy v Myriad Genetics Inc</a>. The case centred on whether the BRCA gene, certain mutations of which predispose women to breast cancer, could be patented. The full Federal Court had decided late last year that <a href="https://theconversation.com/australian-federal-court-upholds-gene-patents-31350">patent claims for the isolated genes were valid</a>. </p>
<p>The special leave means the High Court has agreed to review the decision; we can expect its judgment towards the end of this year, or possibly next year.</p>
<h2>Different jurisdictions</h2>
<p>The Australian case is indicative of global concern about gene patenting. </p>
<p>In June 2013, the <a href="https://theconversation.com/top-us-court-blocks-patents-on-breast-cancer-genes-15193">United States Supreme Court</a> found patents for isolated genes were not valid, also based on a challenge to the BRCA patents. The relevant legal test in the United States is whether the invention is “markedly different” from what occurs in nature. The Supreme Court focused on the information content of the isolated gene, finding it was not sufficiently different. </p>
<p>The relevant test in Australia is whether an invention constitutes an “artificially created state of affairs”. On this point, the Federal Court found the term “isolated” as used in the patent had a specific meaning – that the genetic material had been removed from its native environment and undergone a series of chemical alterations.</p>
<p>The Federal Court accepted that genetic material claimed in the patent may well have the same informational content as that found in nature. What made it artificial was that it differed chemically, structurally and functionally. The court drew attention to the fact that the material would not function properly if re-inserted into human cells. </p>
<p>In Canada, the Children’s Hospital of Eastern Ontario <a href="http://www.cbc.ca/news/health/u-s-gene-patents-patient-care-stymied-in-canada-hospital-claims-1.2820211?utm_medium=twitter&utm_source=twitterfeed&cmp=rss">is also challenging</a> the patentability of isolated genes. While the Australian and US cases were directed to a gene associated with breast cancer, this case concerns long QT syndrome, a rare disease that can <a href="https://theconversation.com/explainer-can-you-just-die-suddenly-25423">lead to heart arrhythmia and sudden death</a>. </p>
<p>Onset of the disease has been linked with mutations in a number of genes. And every one of these genes has to be tested to ensure they perform their job properly. The owner of the Canadian patents is trying to prevent hospitals from doing some tests.</p>
<p>The Canadian case will also ask whether isolated genes are valid subject matter for a patent. But other important questions – including whether methods of analysing genes are patentable, whether aspects of the inventions were so obvious that patents should not have been granted, and whether the Canadian diagnostic organisation is actually infringing any patent claims – are also being raised by the case.</p>
<p>Answers to all these questions are vital to modern genetic diagnostic testing. But the infringement question is particularly interesting because diagnostic technology is constantly changing. </p>
<p>There are good arguments that new types of diagnostic testing and whole genome sequencing may not actually infringe patents claiming isolated genetic material because genes do not have to be chemically and structurally “isolated” to carry out the test.</p>
<p>It is possible for the Australian High Court to reach a different conclusion from both the Canadian and US courts on the patentability of genes. By itself, this does not mean that any one country’s laws are better than any other. What should and should not be patentable is a complex ongoing debate without a clear answer.</p>
<h2>Australian law and practise</h2>
<p>In light of this, there are three particular aspects of Australian patent law and practice that we would like to clarify to encourage informed discussion.</p>
<p>First, no patent can directly claim elements of any naturally occurring organism. Although some patents claim similar subject matter to that in nature, it must still be different. This means there are no valid patent claims to things as they exist in nature.</p>
<p>A patent provides the right to stop others from using the invention that it claims, but it does not provide ownership of tangible things. It’s the stuff of fiction that “corporations own your genes” and can exercise rights to them in your body.</p>
<p>Second, Australian patent law explicitly allows <a href="http://www.austlii.edu.au/au/legis/cth/consol_act/pa1990109/s119c.html">experiments on inventions</a> claimed in patents aimed at improving or modifying them. Any concerns that patents significantly and negatively affect basic research in Australia are exaggerated or represent a misunderstanding of our patent laws.</p>
<p>Third, patents often lead to higher prices because they provide a period of exclusivity in the market. The system is specifically designed this way to encourage research and development. Despite this, our <a href="http://www.publish.csiro.au/view/journals/dsp_journal_fulltext.cfm?nid=270&f=AH13029">recent survey</a> shows that, aside from the cost of materials and reagents, there is no evidence of Australian public testing facilities paying a fee or royalty to provide BRCA genetic tests - or any other genetic test. And anyway, the BRCA patent in question expires on August 11, 2015.</p>
<p>That’s not to say the patent holder, Myriad Genetics, hasn’t pursued royalties or asked companies to stop testing for BRCA mutations around the world – it has. The company’s Australian licensee, Genetic Technologies, has also considered having all tests run through them but decided against it. Currently, any accredited testing organisation can perform the test for BRCA mutations in Australia. </p>
<p>Whatever the High Court ultimately decides in the D’Arcy case, it’s unlikely there will be a surge in gene patent applications. A recent government-sponsored investigation has found such applications have been significantly <a href="http://www.ipaustralia.gov.au/pdfs/IPA_Final_Report__Human_Gene_Patents_2013.pdf">decreasing in number</a>, following a global trend. The reason is not entirely clear, but commentators have <a href="http://www.nature.com/nrg/journal/v13/n6/full/nrg3255.html">suggested</a> that because patents have annual fees and many are not profitable or useful in other ways, they are now being discarded.</p><img src="https://counter.theconversation.com/content/37632/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Dianne Nicol receives funding from the Australian Research Council and National Health and Medical Research Council.</span></em></p><p class="fine-print"><em><span>John Liddicoat 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>Recent cases in Australia and the United States and a new case in Canada show how controversial the subject of gene patents is. But technological advances and the cost of patenting may soon mean gene patents…John Liddicoat, Research Fellow, University of TasmaniaDianne Nicol, Professor of Law, University of TasmaniaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/151952014-09-05T07:06:55Z2014-09-05T07:06:55ZFour things you should know about gene patents<figure><img src="https://images.theconversation.com/files/31511/original/zzhb3j8m-1379470053.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">A gene patent means only the patent-holder has the right to undertake research and development involving that gene.</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>The Federal Court’s decision that gene patenting is permitted in Australia will have ramifications for all gene patents, even though the case involved only one gene associated with breast cancer.</p>
<p>A gene patent means only the patent-holder has the right to undertake research and development involving that gene. These patents generally last for 20 years.</p>
<p>The full bench of the Federal Court heard <a href="http://www.abc.net.au/news/2013-08-07/federal-court-appeal-begins-as-human-gene-patent-challenged/4870874">the appeal</a> against a ruling that private companies could patent genes in August 2013, after a Federal Court justice dismissed a challenge to the patent for a breast cancer gene, BRCA1, in February.</p>
<p>A landmark ruling by the <a href="http://www.supremecourt.gov/opinions/12pdf/12-398_1b7d.pdf">US Supreme Court</a> in June 2012 declared that naturally occurring DNA sequences were ineligible for patents in a case that involved the same breast cancer gene, and the same patent holder. </p>
<h2>The BRCA1 and BRCA2 controversy</h2>
<p>It’s about 20 years since Myriad Genetics patented two genes associated with a significantly increased risk of developing breast cancer. Known as BRCA1 and BRCA2, the genes are also associated with an increased risk of ovarian cancer.</p>
<p>When functional, BRCA1 and BRCA2 produce tumour suppressor proteins that help repair damaged DNA. But when they are altered, the protein is either not made or doesn’t function correctly, leaving DNA damage unrepaired. The cells may then develop additional genetic alterations that can lead to cancer.</p>
<p>Breast cancer affects approximately one in ten women at some time in their lives, although not all cases result from these genetic mutations. <a href="http://www.ncbi.nlm.nih.gov/pubmed/10359546">Studies have estimated</a> that the frequency of BRCA1 and BRCA2 changes in the community is approximately one in 500.</p>
<p>Identifying these gene carriers is an important step in reducing disease in the community and in preventing transmission into subsequent generations. Indeed, any measure that can reduce breast cancer figures and help women avoid an incurable disease is something any reasonable society would aim for.</p>
<p>The BRCA1 and BRCA2 patents have generated significant controversy because Myriad has effectively monopolised the market for screening these genes to identify the alterations, or mutations, that render them non-functional. </p>
<h2>Four things you should know</h2>
<p>Here are four things you should know about gene patents that will provide some context for understanding the Federal Court decision.</p>
<p><strong>1. Genetic patents hinder, or don’t foster, innovation.</strong> </p>
<p><a href="http://www.theguardian.com/commentisfree/2013/apr/24/gene-patents-scientific-research-innovation">The argument</a> that gene patents foster innovation is often used to defend gene patenting, but it’s actually addressing the wrong question. </p>
<p>When considering gene patenting, we need to ask whether a gene is an invention, which is grounds for granting a patent, or a discovery. Isolating the actual gene itself is a discovery and, as such, should not be the focus of patent attention. </p>
<p>Surely only the process of how information is obtained from a gene can be the subject of a patent, and then only if it’s new. Developing new ways to interrogate a gene sequence can and should be patented as this leads to commercial drive and (hopefully) re-investment in new resources to improve testing strategies. </p>
<p><strong>2. Patents have traditionally been granted for isolated genes rather than for any kind of innovation.</strong> </p>
<p>Until recently, patent offices viewed the isolation of genes as enough to declare the gene more than just a product of nature and a discovery. </p>
<p>In the United States, patents are also granted on a first-to-invent basis. This contributed to the gene patent rush as the human genome project gathered pace in the 1990s and gene discoveries became almost a weekly event. There are now an estimated 4,000 gene patents in the United States.</p>
<p>The US Supreme Court ruling against gene patents hinged on a decision that isolating a human gene or part of a human gene is not an act of invention, reversing the traditional patent office practice. The decision allows for synthetically produced DNA sequences to be patented.</p>
<p><strong>3. Gene patents for tests create monopolies that lead to high prices.</strong></p>
<p>Commercial genetic testing has been a contentious issue and few companies undertake testing for single gene disorders. But companies engaged in commercial genetic testing have tended to ensure they’re the sole provider of such tests. </p>
<p>This gives them a monopoly and they can set whatever price they like for the test. This is clearly not a desirable outcome for society because it means we fail to protect vulnerable people who fear they have an illness from exploitation. </p>
<p><strong>4. Monopolies lead to a lack of quality assurance.</strong></p>
<p>Of particular concern is a monopoly’s inability to orchestrate a quality assurance program because this would require samples to be sent to third parties for verification.</p>
<p>Not only does it prevent monitoring of whether internal processes are producing the correct result, it disallows people from seeking a second opinion.</p>
<p>The decision of the High Court of Australia to uphold its previous decision now puts Australia out of step with the US Supreme Court and raises the question of just how much knowledge it has on matters it does not routinely deal with. </p>
<p>But what it means for Australia is probably very little; the current patent held by Myriad Genetics will expire within a relatively short period of time.</p><img src="https://counter.theconversation.com/content/15195/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Rodney Scott does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>The Federal Court’s decision that gene patenting is permitted in Australia will have ramifications for all gene patents, even though the case involved only one gene associated with breast cancer. A gene…Rodney Scott, Professor of Genetics, University of NewcastleLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/242082014-04-04T06:02:58Z2014-04-04T06:02:58ZDocumentary suggests breasts are becoming a health hazard<figure><img src="https://images.theconversation.com/files/45497/original/jcgntgn8-1396497012.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The documentary explores why 99% of women with breast cancer have no family history of the disease.</span> <span class="attribution"><span class="source">SBS</span></span></figcaption></figure><p>Most people would be aware of Angelina Jolie’s preventative double mastectomy after she found she was carrying a mutation to the <a href="http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA">BRCA 1 gene</a> which confers an extremely high risk of breast cancer. </p>
<p>But according to a new documentary airing at 8:30pm Sunday April 6 on SBS ONE, The Secret Life of Breasts, it’s less well known that the majority of women with breast cancer have no family history of the disease. (Although it should be noted that most authorities attribute between <a href="http://www.breastcancer.org/symptoms/understand_bc/statistics">5%</a> and <a href="https://www.genome.gov/10000507">27%</a> of breast cancer cases to family history or known mutations).</p>
<p>We are a culture obsessed with breasts - but how much do we really know about them? The Secret Life of Breasts seeks to find out.</p>
<p>The documentary is based on the work of US environmental journalist Florence Williams’ 2012 book, <a href="https://florencewilliams.wordpress.com/breasts/">Breasts: A Natural and Unnatural History</a>, whose main thesis is that while we eroticise breasts, they may actually be a hidden toxic waste ground. </p>
<p>Williams proposes that our breasts, with their fat deposits and oestrogen receptors, are a “sentinel organ”. Like canaries in a coalmine, they’re dying ahead of the miners who seem not to be heeding the warning. </p>
<p>Following in her footsteps, documentary makers interview Williams and follow people who are engaged with their breast health in some way, due to early puberty, breastfeeding, cancer risk or disfigurement.</p>
<p>This includes a young man in Brisbane undergoing breast reduction surgery, a group of ten young mothers in Sydney who decide to have their breast milk tested for contaminants and a woman in northern New South Wales who has a preventative double mastectomy and donates her breast tissue for chemical analysis.</p>
<p>The results from both the tests are disturbing; our bodies are apparently burdened by pesticides and other toxins, despite some of them having been banned decades ago. Interestingly, this sort of test was the start of Williams’ work, who <a href="http://www.slate.com/articles/arts/books/2012/05/history_of_breasts_by_florence_williams_reviewed_.html">decided to have her own breast milk tested</a> after she read a news story about toxins in breast milk.</p>
<p>In line with Williams’ work, the documentary highlights the tendency of fatty tissue to attract surplus oestrogen. Because the human breast contains billions of oestrogen receptors as well as fatty tissue, it’s a magnet for not only the hormone itself but for <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1241417/">oestrogen-like impostors, or “endocrine disruptors”</a>, contained in food and industrial chemicals, particularly during developmental stages. These are absorbed into our bodies <a href="http://www.ncbi.nlm.nih.gov/pubmed/19478717">throughout our lives</a> – from furnishings, packaging, detergents, and numerous other commodities. </p>
<p>The Secret Life of Breasts highlights how manufacturing and agriculture are not required to test the safety of the chemicals they use. According to the director of the US National Institute for Environmental Health Sciences, <a href="http://www.niehs.nih.gov/about/od/director/">Linda Birnbaum</a>, chemicals are only subject to testing when ill-effects are suspected. </p>
<p>According to the documentary, the alarm being sounded by breasts include <a href="http://archive.bcaction.org/index.php?page=statistics-and-general-facts#Q2">steadily rising breast cancer rates</a>, early puberty (from as young as age seven), bigger female breasts with bra size double D being the new normal, and <a href="https://www.andrologyaustralia.org/gynaecomastia/">gynaecomastia</a> (man boobs), among other things. </p>
<p>Williams is particularly concerned about the possible risks passed on to babies through contaminated breast milk. While it’s still generally accepted that breast milk beats formula for safety and benefits, it’s nevertheless a disturbing idea that a <a href="http://www.rsc.org/Publishing/ChemScience/Volume/2007/10/Contaminants_breast_milk.asp">mother’s burden of chemicals</a> will be present in her child’s nourishment. </p>
<p>But is the documentary overstating the harms posed to babies by toxins in breast milk? <a href="http://researchnews.osu.edu/archive/vocbaby.htm">US researchers who measured levels of volatile organic compounds</a> in the breast milk of three mothers found the levels of the same compounds were higher in the air in their homes. This was a pioneering study but it was quite small - only three mothers from the same area were involved – so it’s difficult to know which to give greater credence.</p>
<p>And this is not the first time the idea of babies being exposed to toxins through breast milk has been raised either. Biologist Sandra Steingraber’s 2001 book <a href="http://steingraber.com/books/having-faith/">Having Faith: An Ecologist’s Journey to Motherhood</a> asked - if “breast is best”, how can we help our environment ensure the purity of its milk? </p>
<p>This documentary provides plenty of food for thought about mammary glands, and while it raises as many questions as it tries to answer, it’s worth deciding for yourself whether you need to be worried about the secret life of breasts.</p><img src="https://counter.theconversation.com/content/24208/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Fiona Giles 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>Most people would be aware of Angelina Jolie’s preventative double mastectomy after she found she was carrying a mutation to the BRCA 1 gene which confers an extremely high risk of breast cancer. But according…Fiona Giles, Senior Lecturer in Media & Communications, University of SydneyLicensed as Creative Commons – attribution, no derivatives.