tag:theconversation.com,2011:/us/topics/precision-medicine-series-49226/articlesPrecision medicine series – The Conversation2020-02-18T15:51:52Ztag:theconversation.com,2011:article/1319862020-02-18T15:51:52Z2020-02-18T15:51:52ZThese scientists are using DNA to target new drugs for your genes – Medicine made for you part 1<figure><img src="https://images.theconversation.com/files/315927/original/file-20200218-10995-1mbft4z.jpg?ixlib=rb-1.1.0&rect=23%2C112%2C2600%2C1607&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/laboratory-research-cancer-diseases-rack-rna-193672376">By Science Photo/Shutterstock</a></span></figcaption></figure><p>Welcome to the first episode of <a href="https://theconversation.com/uk/topics/medicine-made-for-you-82269"><em>Medicine made for you</em></a>, a brand new series from <a href="https://theconversation.com/uk/topics/the-anthill-podcast-27460">The Anthill</a>, a podcast from The Conversation. Across three episodes we’re taking a deep dive into the future of healthcare – and finding out how it could soon get a lot more personal.</p>
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<p>In part 1 of <em>Medicine made for you</em> we look at genes, clinical trials and how possible it might be for the NHS to take a more personalised view of our health. And we find out why Scotland, a country of 5.4 million people, with one of the lowest life expectancies in western Europe, is a pioneer of this kind of research.</p>
<p>Taking a much more precise approach to treatment means that for some diseases, doctors can prescribe drugs based on a person’s DNA. This so-called <a href="https://theconversation.com/uk/topics/precision-medicine-14622">precision medicine</a> is breaking new ground in the treatment of some diseases. And it could change medicine for good.</p>
<p>We start with a trip to Glasgow to find out why Scotland is leading the way in precision medicine. Anna Dominiczak, regius professor of medicine, vice principal and head of the College of Medical, Veterinary and Life Sciences at the University of Glasgow, talks about the massive potential precision medicine has to help diagnose, treat and prevent disease. </p>
<p>Next we take a tour of a lab to find out what happens behind the scenes.
Susie Cooke, head of medical genomics at Glasgow Precision Oncology Laboratory, shows us the sequencing process – allowing us to see first hand how DNA is tested and analysed. </p>
<p>Cooke is trying to improve treatment outcomes, since 90% of the top selling drugs only work for 30-50% of patients. The current so-called “trial and error” method of medicine results in only 25% of cancer patients responding to drugs – as Cooke explains:</p>
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<p>Every year 165,000 people in the UK die from cancer and the UK is lagging behind other countries in terms of cancer outcomes … there needs to be a really big shift to improve these statistics. This is all going to be about finding out who does respond to drugs and who doesn’t – and for those people who don’t respond let’s stop giving them those treatments because they don’t work, they have side effects and they cost the NHS a lot of money. And instead let’s find something that does work for those patients that aren’t responding.</p>
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<p>Clinical trials are crucial to this process as they can help scientists work out which groups of people respond to treatment and which don’t. Andrew Biankin, regius chair of surgery and director of the Translational Research Centre at the University of Glasgow, explains why he believes patients should be offered a clinical trial at the start of treatment, not at the end. Biankin believes this move would help to remove some of the stigma in clinical trials as it would seem much less like a “last option”. </p>
<p>Lesley Stephen, from Edinburgh, is one such patient who has benefited from clinical trials. She has been living with advanced breast cancer for five years:</p>
<blockquote>
<p>My clinical trial has given me a really good quality of life for the last four years. Prior to that I was just on chemotherapy and given months to live. Although with stage four cancer it can’t be cured, the hope is that you can extend your life and live well – but chemo doesn’t give you that. Just by luck, by pure chance, I got onto a clinical trial and have had an amazing response to it.</p>
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<p>But she also tells us how hard it can be to find out about clinical trials. There are quite strict rules about who can and can’t go on a trial – the sicker you are, the less likely you are to be accepted. She says many patients don’t even know clinical trials exist. So it seems there is a long way to go before everyone has the choice to join one at the start of cancer treatment.</p>
<p>Despite this, Iain McInnes, professor of experimental medicine and director of the Research Institute at the University of Glasgow, believes that ten years from now, precision medicine will be the new normal. He thinks this way of doing things will simply be part of the infrastructure and integral to the development of new drugs:</p>
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<p>The application of an effective precision medicine tool will significantly reduce the cost of care. You’re reducing the likelihood of a non response, you’re reducing the poorer quality of life that is suffered by a person who doesn’t respond to drugs. You’re reducing the likelihood of side effects – which costs money to manage. And most of the long-term predictions indicate that a precision medicine approach could save substantial sums of money for the NHS and the health budgets in many counties beyond.</p>
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<p>Not everyone is so optimistic. Stephen MacMahon, principal director of The George Institute for Global Health at the University of Oxford, worries that the current enthusiasm for precision medicine may blind us to the benefits of <a href="https://theconversation.com/in-defence-of-imprecise-medicine-the-benefits-of-routine-treatments-for-common-diseases-128440">“imprecise” medicine</a> which saves millions of lives every year. He also has concerns that rolling out a precision medicine approach far and wide could result in some patients taking liberties with their health:</p>
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<p>I hear people say that they might not need to change their lifestyle because by the time they’re at risk of heart disease there’ll probably be a cure that will target their genes and they’ll be ok. And I think [in that sense], there are risks about getting the balance and message on this wrong. </p>
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<p>It’s clear then that for precision medicine to work more widely it would require a complete shift in the way the health system currently operates. This isn’t to say it’s not possible, but for the NHS to catch up with what the research shows is available, there will need to be a fundamental change in the way medicine is practised.</p>
<p>In our second episode, out on February 25, we’ll delve further into the personalisation of healthcare – looking at the role it could play in our diets and nutrition.</p>
<p><em>The music in this episode is <a href="https://freemusicarchive.org/music/Chris_Zabriskie/Reappear/04_-_Is_That_You_or_Are_You_You">Is That You or Are You You?</a> by Chris Zabriskie. Medicine made for you is produced and reported by Holly Squire and Gemma Ware, and hosted by Annabel Bligh for The Anthill podcast. A big thanks to City, University of London, for letting us use their studios.</em></p><img src="https://counter.theconversation.com/content/131986/count.gif" alt="The Conversation" width="1" height="1" />
PODCAST: The first episode of a new series from The Anthill focuses on precision medicine.Annabel Bligh, Business & Economy Editor and Podcast Producer, The Conversation UKGemma Ware, Head of AudioHolly Squire, Special Projects Editor, The Conversation UKLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/904592018-02-02T05:07:08Z2018-02-02T05:07:08ZFour ways precision medicine is making a difference<figure><img src="https://images.theconversation.com/files/204367/original/file-20180201-123829-1rvxlpc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Identification of genetic mutations has led to the development of effective drugs.</span> </figcaption></figure><p><em>This article is part of a <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">package on precision medicine</a>, where we explore genomic sequencing and what it means for better diagnosis and treatment of many conditions including cancer and rare diseases.</em></p>
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<p>All human characteristics are profoundly influenced by genetic factors, including <a href="http://www.annualreviews.org/doi/abs/10.1146/annurev-genom-091212-153448">susceptibility to infectious and complex diseases</a> such as tuberculosis and cancer. Until now it has been virtually impossible to target medicine to a specific individual’s genetic makeup, and medicine has been aimed at the average.</p>
<p>But now “precision medicine” is allowing us to analyse a person’s genetic makeup and target treatments based on their specific needs. A report released this week by the Australian Council of Learned Academies, <a href="https://acola.org.au/wp/pmed/">The Future of Precision Medicine in Australia</a>, notes the cost of sequencing individual genomes has plummeted from more than US$1 billion to US$1,000 over the past 15 years, and continues to fall.</p>
<p>Here are four areas in which precision medicine is making a difference in health care, and some of the ways we hope it will improve health care in the future.</p>
<h2>1. Diagnosing and preventing genetic disease</h2>
<p>The precision medicine revolution is transforming the diagnosis and prevention of genetic disease. Tragically, <a href="http://www.kumc.edu/GEC/prof/prevalnc.html">at least 2% of all children</a> are afflicted by a severe developmental or intellectual disability, which can result from damage to any one of thousands of genes that encode the proteins we need to function. </p>
<p>Genome sequencing can now identify <a href="https://www.nature.com/articles/nature13394">40-60% of the affected genes</a>, giving parents and doctors the answers they need to improve treatment.</p>
<p>This information also improves the confidence of parents to have more children, as the problem can be avoided by IVF. For these reasons, the UK National Health Service has <a href="https://www.genomeweb.com/molecular-diagnostics/100k-genomes-project-returns-patient-reports-nhs-prepares-commission-wgs">recently announced</a> genome sequencing will be used to determine the cause in cases of severe unexplained disability. Hopefully Australia will soon follow suit.</p>
<p>This is just the beginning. The use of genome sequencing for preconception screening of prospective parents is just around the corner, and has the potential to reduce the incidence of genetic disability in our community.</p>
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<p><strong><em>Read more:</em></strong></p>
<ul>
<li><p><strong><em><a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">What is pre-pregnancy carrier screening and should potential parents consider it?</a></em></strong></p></li>
<li><p><strong><em><a href="https://theconversation.com/what-prospective-parents-need-to-know-about-gene-tests-such-as-prepair-87083">What prospective parents need to know about gene tests such as ‘prepair’</a></em></strong></p></li>
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<h2>2. Cancer diagnosis and treatment</h2>
<p>Cancer is caused by a wide range of cell mutations, but traditional tests do not make clear which of these is driving a particular cancer. </p>
<p>Identification of these mutations has led to the development of effective drugs such as <a href="http://www.cancerresearchuk.org/about-cancer/cancer-in-general/treatment/cancer-drugs/drugs/imatinib">Imatinib</a>, with many more in late stage development. But these are expensive and can be applied only if the precise target is known. </p>
<p>Countries such as the United States, United Kingdom and France are trialling sequencing the cancer’s DNA in order to better target treatment. Unpublished, emerging evidence indicates a substantial improvement in survival, but surprisingly, an overall reduction in costs. This appears to be due to fewer episodes of patients requiring acute care.</p>
<p>Some of the outcomes of genomically-informed cancer treatment are spectacular. I am aware of two children locally with lethal cancers, one of whom was close to death, who have been apparently cured as a result of prescribing the correct drug (which had never before been indicated in the cancers concerned) following genome analysis.</p>
<p>We can also increasingly predict an individual’s risk of getting cancer by analysing genes known to be involved in cancer. A <a href="https://jamanetwork.com/journals/jamaoncology/article-abstract/2646798?redirect=true">recent study using MRIs</a> of people judged at high risk of cancer because of an inherited mutation in a cancer-causing gene showed 10% already had tumours that weren’t yet causing symptoms. These could then be readily removed. </p>
<h2>3. The suitability of medicines</h2>
<p>A <a href="https://www.mja.com.au/journal/2006/184/11/incidence-and-cost-adverse-events-victorian-hospitals-2003-04">high proportion</a> of hospital admissions in Australia and other countries are <a href="http://www.bmj.com/content/329/7456/15">due to toxic reactions</a> to prescribed medications. And many medications are useless in some people. </p>
<p>The main reason for this is we have different forms of the liver enzymes that clear chemicals from our bloodstream, which in turn affects their concentration and how long they last. By necessity, prescriptions are directed at the average. </p>
<p>There are also rare gene mutations that make some medications lethal for some people. Genome analysis can predict and avoid many of these adverse reactions or unproductive prescriptions, saving enormous amounts of money and making medication more personal and precise.</p>
<h2>4. Population health data</h2>
<p>Given the benefits of genome sequencing for individual health, it’s assumed most people will consent, and have the results incorporated into their personal medical records. Amalgamation of this information with clinical records will provide rich data that can be mined for biomedical discovery, as well as for better management of medical systems and resource allocation.</p>
<p>Personal wearable and implantable devices that can monitor physiological responses (sleep, blood sugar, blood pressure, medication compliance, etc.) will contribute the other half of the personal picture by providing real-time information to assist diagnosis, helping people find the best strategies for improving their health. </p>
<p>Medicine will become one of the most data-intensive industries on the planet, changing from the art of crisis management to the science of good health. This will have a transformative effect on health, both individually and systemically, with enormous implications for national economies.</p><img src="https://counter.theconversation.com/content/90459/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>John Mattick is the Executive Director of the Garvan Institute of Medical Research, the owner of Genome.One, which is clinically accredited to undertake whole genome sequencing and analysis.</span></em></p>“Precision medicine” is allowing us to analyse a person’s genetic makeup and target treatments based on their specific needs.John Stanley Mattick, Executive Director, Garvan Institute of Medical Research, Garvan InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/905272018-02-01T05:25:30Z2018-02-01T05:25:30ZNot all genetic tests should be publicly funded – here’s why<figure><img src="https://images.theconversation.com/files/204368/original/file-20180201-123862-1tw7bjj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">More knowledge about your genetic makeup enables you to make better-informed choices – but at what cost?</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/1012409287?src=IFDhfMXejh9L_mVp9K-Z_g-1-70&size=huge_jpg">Shutterstock</a></span></figcaption></figure><p><em>This article is part of a <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">package on precision medicine</a>, where we explore genomic sequencing and what it means for better diagnosis and treatment of many conditions including cancer and rare diseases.</em></p>
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<p>New genetic technologies hold great promise in their potential to treat patients based on their individual genetic information. Advances in mapping the human genome mean the cost of doing a genetic test has fallen dramatically, though the costs of these tests – and subsequent treatment – are still high.</p>
<p>It’s exciting to think we’re on the brink of a genomic revolution in health care. But just because new technology becomes available, it doesn’t mean it should automatically be funded by the government through Medicare or the Pharmaceutical Benefits Scheme (PBS). </p>
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<em>
<strong>
Read more:
<a href="https://theconversation.com/its-2030-and-precision-medicine-has-changed-health-care-this-is-what-it-looks-like-90539">It's 2030, and precision medicine has changed health care – this is what it looks like</a>
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<p>A number of types of genetic tests are currently available, including those for: </p>
<ul>
<li>a person’s whole genome sequence</li>
<li>a particular gene that carries the certainty of a diagnosis</li>
<li>a gene that increases the person’s risk of developing a disease</li>
<li>a patient who already has a diagnosis, to test whether a particular medicine will be effective.<br></li>
</ul>
<p>Each genetic test, each disease and each treatment pathway must be analysed to determine the balance of costs and benefits. We need to apply the same principles we do for any test, procedure or new medicine to determine whether it should be publicly funded: it must represent good value for money and be likely to improve health outcomes.</p>
<h2>Gene-based therapies</h2>
<p>Let’s consider the example of cancer treatment. Some medicines work only on tumours with particular genetic markers. By using a test to target the medicine only to cancer patients who have the marker, we can be more confident that the medicine is effective for those who are treated, thus avoiding unnecessary costs and possible side-effects. This could make the new medicine more affordable. </p>
<p>But for the seller of the medicine, greater effectiveness means they can ask a higher price. Indeed, they <a href="http://www.oecd-ilibrary.org/science-and-technology/pharmacogenetics-opportunities-and-challenges-for-health-innovation/business-models-for-pharmacogenetics_9789264076808-6-en;jsessionid=15bo09hn8l46w.x-oecd-live-03">need to</a>, because now there is a smaller target “market”. </p>
<p>The cystic fibrosis drug Ivacaftor, for instance, <a href="http://www.abc.net.au/news/2014-10-26/cystic-fibrosis-patients-to-benefit-from-drug-listing/5842332">cost patients around A$250,000 a year</a> before it was subsidised on the PBS. The clinical trials had only demonstrated effectiveness in patients with a G551D mutation, which is only <a href="http://www.pbs.gov.au/info/industry/listing/elements/pbac-meetings/psd/2013-11/ivacaftor">8.6% of the population</a> with the disease. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/how-cancer-doctors-use-personalised-medicine-to-target-variations-unique-to-each-tumour-47349">How cancer doctors use personalised medicine to target variations unique to each tumour</a>
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<p>The challenge for the government is whether we can afford to pay higher prices for each of these targeted medicines. Then there’s the issue of who will pay for the test, which will need to be done for everyone who might have the genetic marker. Should it be the government, private health insurers or individuals?</p>
<p>Without public funding of genetic testing, access to the effective treatment depends on whether you can afford to pay for the test, which undermines the equity principles of Medicare. </p>
<p>To overcome this challenge, Australia now requires <a href="http://www.health.gov.au/internet/hta/publishing.nsf/content/co-1">integrated submissions of “co-dependent” technologies</a>. This means, for instance, that if access to a new medicine on the PBS depends on the results of a test, the test should be publicly funded, and at a price that represents good value for money. </p>
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<img alt="" src="https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/204379/original/file-20180201-123829-1hiwy9s.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Gene-based therapy is more expensive but more targeted.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/photos/Q4eWnth5S74">Thought Catalog</a></span>
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<h2>Testing for known diseases</h2>
<p>More knowledge about your genetic makeup enables you to make better-informed choices: whether to seek preventive treatment; to change your behaviour to reduce risks; or to plan for the future. </p>
<p>In the context of specific known diseases, such testing is best done in a setting with genetic counselling, so the person can fully understand the implications of the knowledge and the decisions that may need to be made. </p>
<p>For a woman who has had breast cancer, a BRCA gene test can inform her choice about, for example, mastectomy to prevent a second breast cancer. Testing of immediate family members can determine if they carry the gene, allowing them to seek preventive treatment or more frequent screening. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">Angelina Jolie has had a double mastectomy, so what is BRCA1?</a>
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<p>But sometimes nothing can be done with the knowledge you obtained from your gene test. Knowing you have a higher risk of, say, dementia, could improve your well-being by giving you the chance to plan. Or it could just make you feel worse. </p>
<p>The costs and benefits of a genetic test depend greatly on whether there is effective prevention or treatment available, and what that treatment is. </p>
<h2>Value for money</h2>
<p>Australia assesses whether any test in health care represents good value for money by mapping out the treatment pathways that are available for each test result, and evaluating the costs and health benefits of each of these. </p>
<p>Based on such an assessment, the <a href="https://www.bcna.org.au/news/2017/10/bcna-welcomes-new-medicare-rebates-for-genetic-testing/">Medical Services Advisory Committee recently recommended</a> a Medicare rebate of A$1,200 for genetic testing for hereditary mutations for breast and ovarian cancer, including the BRCA1 and 2 genes. This would cover most, if not all, of the cost of the test. The committee also recommended Medicare pay a A$400 rebate for predictive testing for family members. </p>
<p>The <a href="http://www.msac.gov.au/internet/msac/publishing.nsf/content/1411.1-public">committee concluded</a> the test would be good value for money, at around A$18,000 per <a href="http://www.health.gov.au/internet/publications/publishing.nsf/Content/illicit-pubs-needle-return-1-rep-toc%7Eillicit-pubs-needle-return-1-rep-5%7Eillicit-pubs-needle-return-1-rep-5-2">Quality Adjusted Life Year</a> (QALY) gained (from breast and ovarian cancers avoided). A QALY is a way of quantifying the additional survival and quality of life from the test compared with not having the test available. </p>
<p>For a test for a single gene or genes that are a certain marker for specific diseases, assessment of cost effectiveness is relatively straightforward, particularly if there is an effective treatment available. </p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/new-cancer-drugs-are-very-expensive-heres-how-we-work-out-value-for-our-money-44014">New cancer drugs are very expensive - here's how we work out value for our money</a>
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<h2>Predicting future diseases</h2>
<p>For a test that indicates increased risk of developing diseases in the future, such as whole genome sequencing, the options are less clear. </p>
<p>The committee would ask: can the person reduce their risk by exercising more and eating better? And will the information increase their motivation to do so over and above medical advice already received? Or will it motivate them to seek more treatment over time? And how effective is this treatment?</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/204377/original/file-20180201-123859-1ekbi9v.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">It’s not always best to know.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/photos/CTAbgDbm2Bw">Eric Didier</a></span>
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<p>Whole genome sequencing and genetic counselling is available privately in Australia now <a href="https://www.genome.one/post/oneome-and-genome-one-team-up-to-provide-powerful-genetic-insights">for around A$6,000</a> (including a health assessment) – so affordable only to the rich. It is not publicly funded because the benefits are uncertain. </p>
<p>It could just be “nice to know” (as such tests are marketed in the US); it could motivate the person to change their behaviour and thus lead to better health outcomes; or it could create anxiety and unnecessary intervention, and thus ultimately increase health care costs, not just for the individual but for the society. </p>
<p>There is no blanket answer to whether genomic testing is cost-effective. Each test, each disease and each treatment pathway must be analysed to determine the balance of costs and benefits, following the same approach as for other new medical technologies.</p>
<hr>
<p><em>Read the other articles in our <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">precision medicine package here</a>.</em></p><img src="https://counter.theconversation.com/content/90527/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Rosalie Viney receives funding from NHMRC and ARC. She was formerly a member of the Pharmaceutical Benefits Advisory Committee. </span></em></p><p class="fine-print"><em><span>Jane Hall receives funding from the NHMRC and the ARC. </span></em></p><p class="fine-print"><em><span>Grattan Institute began with contributions to its endowment of $15 million from each of the Federal and Victorian Governments, and $4 million from BHP Billiton. In order to safeguard its independence, Grattan Institute’s board controls this endowment. The funds are invested and Grattan uses the income to pursue its activities</span></em></p>It’s exciting to think we’re on the brink of a genomic revolution in health care. But just because new technology becomes available, it doesn’t mean it should automatically be publicly funded.Rosalie Viney, Professor of Health Economics, University of Technology SydneyJane Hall, Professor of Health Economics and Director, Centre for Health Economics Research and Evaluation, University of Technology SydneyStephen Duckett, Director, Health Program, Grattan InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/845912018-01-31T19:04:52Z2018-01-31T19:04:52ZWhat is CRISPR gene editing, and how does it work?<figure><img src="https://images.theconversation.com/files/203941/original/file-20180130-170442-4m9ea.png?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Scientists discovered some bacteria can cut the DNA of invading viruses as a defence mechanism. They realised they could use this to cut human DNA. </span> </figcaption></figure><p><a href="https://www.technologyreview.com/s/608967/arming-bodies-with-crispr-to-fight-huntingtons-disease-and-als/">You’ve probably read</a> <a href="http://www.bionews.org.uk/page_894685.asp">stories</a> about <a href="https://futurism.com/crispr-is-on-the-cusp-of-eradicating-a-host-of-diseases/">new research</a> using the <a href="https://motherboard.vice.com/en_us/article/pakxem/scientists-used-crispr-to-edit-a-gene-that-causes-miscarriages">gene editing technique</a> CRISPR, also called CRISPR/Cas9. The scientific world is captivated by this revolutionary <a href="https://theconversation.com/explainer-what-is-genome-editing-25072">technology</a>, since it is easier, cheaper and more efficient than previous strategies for modifying DNA. </p>
<p>The term CRISPR/Cas9 stands for Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated protein 9. The names reflect <a href="https://www.broadinstitute.org/what-broad/areas-focus/project-spotlight/crispr-timeline">important features identified during its discovery</a>, but don’t tell us much about how it works, as they were coined before anyone understood what it was.</p>
<p><iframe id="tc-infographic-229" class="tc-infographic" height="580px" src="https://cdn.theconversation.com/infographics/229/1e1ccd9abbd9a92604e144561050c08a9c49d8b3/site/index.html" width="100%" style="border: none" frameborder="0"></iframe></p>
<h2>What does CRISPR/Cas9 do?</h2>
<p>CRISPR/Cas9 is a system found in bacteria and involved in immune defence. Bacteria use CRISPR/Cas9 to cut up the DNA of invading bacterial viruses that might otherwise kill them. </p>
<p>Today we’ve adapted this molecular machinery for an entirely different purpose – to change any chosen letter(s) in an organism’s DNA code. </p>
<p>We might want to correct a disease-causing error that was inherited or crept into our DNA when it replicated. Or, in some cases, we may want to enhance the genetic code of crops, livestock or <a href="https://theconversation.com/the-future-of-genetic-enhancement-is-not-in-the-west-63246">perhaps even people</a>.</p>
<p>So do we just snip the unwanted gene out and replace it with a good one? </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/explainer-what-is-genome-editing-25072">Explainer: what is genome editing?</a>
</strong>
</em>
</p>
<hr>
<p>We first have to remember that animals and plants are composed of millions of cells, and each cell contains the same DNA. There is no point editing just one cell: we would have to edit the same gene in every single cell. We’d have to snip out millions of genes and paste in millions of new ones. </p>
<p>And not all cells are easy to get to – how could we reach cells buried in our bones or deep within a brain? </p>
<p>A better approach is to start at the beginning and edit the genome while there is only one cell – a very early embryo.</p>
<p>So, all we need is a giant microscope and a tiny pair of scissors. And that is basically what we use. </p>
<p>Cas9 is the technical name for the virus-destroying “scissors” that evolved in bacteria. The CRISPR part of the name comes from repeat DNA sequences that were part of a complex system telling the scissors which part of the DNA to cut.</p>
<h2>Find, cut and then paste</h2>
<p>In order to target our Cas9 scissors, we link them to an artificial guide that directs them to the matching segment of DNA.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/204121/original/file-20180130-38198-1tfi88o.png?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">We give the scissors a copy of the DNA we’re after so they know where to cut.</span>
<span class="attribution"><a class="license" href="http://creativecommons.org/licenses/by-nd/4.0/">CC BY-ND</a></span>
</figcaption>
</figure>
<p>Remember, DNA comes in two strands, with one strand fitting alongside the other. We make a guide with a code that will line up with only one part of our 3 billion base pair long genome – it’s like a “Google” search. It’s truly possible for our guide to comb through vast amounts of genetic material to find the one section it matches exactly. Then our “scissors” can make the cut in exactly the right place.</p>
<p>Once the Cas9 scissors cut the DNA just where we intend, the cell will try to repair the break using any available DNA it can find. So, we also inject the new gene we want to insert. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/204125/original/file-20180130-38203-1mwwt0p.png?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">If we inject new DNA it will take the place of the DNA we have cut.</span>
</figcaption>
</figure>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/now-we-can-edit-life-itself-we-need-to-ask-how-we-should-use-such-technology-68821">Now we can edit life itself, we need to ask how we should use such technology</a>
</strong>
</em>
</p>
<hr>
<p>You can use a microscope and a tiny needle to inject the CRISPR/Cas9 together with the guide and the donor DNA, the new gene. Or, you can punch holes in cells with electric currents and let these things just float in, use guns to shoot them in stuck-on tiny bullets, or introduce them encapsulated in bubbles of fat that fuse with the cell membrane and release their contents inside. </p>
<p>But how does the new gene find the right place to embed itself? Imagine you wanted to put in the last piece of a jigsaw puzzle with 3 billion pieces, and it’s inside a cell, filled with goop like a passionfruit.</p>
<p>What you’d do is fabricate a jigsaw piece of precisely the right shape and inject it into the passionfruit. Then it’s just a case of jiggling around until eventually the piece finds its way to the correct part of the puzzle and slots into the only place it fits.</p>
<p>You don’t need to be able to see the DNA in our genome through the microscope – it’s too small. And you don’t really have to jiggle either – random diffusion (called <a href="https://www.britannica.com/science/Brownian-motion">Brownian motion</a>) will always deliver the jigsaw piece to the place where it fits in the end. </p>
<p>First, the guide will jiggle along and find the right place for the scissors to cut, and then the new donor DNA will similarly line up where it fits and will be permanently stitched into the DNA strand via natural DNA repair mechanisms.</p>
<p>Recently, though, <a href="https://www.nature.com/news/crispr-hacks-enable-pinpoint-repairs-to-genome-1.22884">new CRISPR editing systems</a> have been created that don’t even require a cut through the DNA. In this case, the CRIPSR/Cas and guide system can deliver an enzyme to a particular gene and alter it, changing perhaps an A to a G or a C to a T, rather than cutting anything out or putting anything in.</p>
<h2>What are we doing with CRISPR/Cas9?</h2>
<p>Most experiments use mouse embryos or cells grown in petri dishes in artificial liquid designed to be like blood. Other researchers are modifying stem cells that may then be re-injected into patients to repopulate damaged organs. </p>
<p>Only a few labs around the world are actually working with <a href="https://theconversation.com/genome-editing-of-human-embryos-broadens-ethics-discussions-84888">early human embryos</a>. This research is highly regulated and carefully watched. Others work on plant cells, as whole plants can be grown from a few cells. </p>
<p>As we learn more, the scope of what we can do with CRISPR/Cas9 will improve. We can do a lot, but every organism and every cell is different. What’s more, everything in the body is connected, so we must think about unexpected side effects and <a href="https://theconversation.com/human-embryo-crispr-advances-science-but-lets-focus-on-ethics-not-world-firsts-81956">consider the ethics of changing genes</a>. Most of all we, as a society, should discuss and agree what we wish to achieve.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-we-can-trust-scientists-with-the-power-of-new-gene-editing-technology-51480">Why we can trust scientists with the power of new gene-editing technology</a>
</strong>
</em>
</p>
<hr>
<p><strong><em>Read the other articles in our <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">precision medicine series here</a>.</em></strong></p><img src="https://counter.theconversation.com/content/84591/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Merlin Crossley receives funding from the Australian Research Council and National Health and Medical Research Council. He is a Trustee of the Australian Museum, on the Board of the Australian Science Media Centre, and the Editorial Board of The Conversation.</span></em></p>CRISPR harnesses the natural defence mechanisms of some bacteria to cut human DNA strands. Then the DNA strand either heals itself or we inject new DNA to mend the gap. This is gene editing.Merlin Crossley, Deputy Vice-Chancellor Academic and Professor of Molecular Biology, UNSW SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/905392018-01-30T23:30:15Z2018-01-30T23:30:15ZIt’s 2030, and precision medicine has changed health care – this is what it looks like<figure><img src="https://images.theconversation.com/files/203929/original/file-20180130-170419-1eah061.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">In 2030, some diseases are defined more specifically than in the past with a focus on their molecular makeup. This is known as precision medicine.</span> <span class="attribution"><span class="source">from shutterstock.com</span></span></figcaption></figure><p><em>This article is part of a <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">package on precision medicine</a>, where we explore genomic sequencing and what it means for better diagnosis and treatment of many conditions including cancer and rare diseases.</em></p>
<hr>
<p>Imagine it is 2030. Ten-year-old Amy is wheeled into a children’s hospital clinic by her mother and, across town, 45-year-old Anh is visiting his oncologist one week after leaving hospital for his lung cancer operation. </p>
<p>Amy is slowly losing her ability to walk due to a muscle disorder that has only recently been given a name. Many diseases of muscle in children such as muscular dystrophy are caused by gene mutations (muscle disorders in adults are less likely to have a genetic mutation basis). In 2018, <a href="https://www.ncbi.nlm.nih.gov/pubmed/25380242">only around 40%</a> of these mutations were known. </p>
<p>In 2030, we know 99% of mutations causing inherited muscle diseases worldwide. Because the costs of genetic sequencing are so much lower, more people have had their genomes scanned. Researchers have spent the last 20 years gathering information about various genetic markers and mutations into massive biobanks. This data is now globally accessible, which has led to international collaboration and better understanding of diseases.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/personalised-medicine-has-obvious-benefits-but-has-anyone-thought-about-the-issues-59158">Personalised medicine has obvious benefits but has anyone thought about the issues?</a>
</strong>
</em>
</p>
<hr>
<p>So, 2030 is seeing a boom in precision medicine – where some diseases are defined more specifically than in the past with a focus on their molecular makeup. That is, the genes related to the DNA of the disease and other molecular elements. Precision medicine has vastly improved the ability to diagnose rare inherited diseases; to diagnose and treat cancers; and to aid in diagnosis and management of infectious diseases, dementia, heart disease and diabetes, among many others.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=798&fit=crop&dpr=1 600w, https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=798&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=798&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1003&fit=crop&dpr=1 754w, https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1003&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/203743/original/file-20180129-100915-eipqys.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1003&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Scientists have been able to pinpoint exactly which gene mutation caused Amy’s disease.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<h2>Amy’s story</h2>
<p>At Amy’s fifth gene test during her life, performed using the seventh version of specialist software for mutation detection associated with muscle disease, she was finally told which mutation led to her disability.</p>
<p>Some rare neuromuscular diseases are limited to very few families in the world. When only one family member is affected, and particularly if they are the first in the family, the responsible defect in the gene can be extremely difficult to determine among all the normal variations in the human genome.</p>
<p>Through access to global repositories of genomic data, Amy’s specialist has been able to download all known cases of this disease in the world. She has summarised information on the likely health outcomes of other patients and available treatment options or trials. </p>
<p>Amy’s disease is so newly diagnosed that there has been no funded research in this specific area. But there are similarities with other better known muscle disorders. Using international databases, the specialist finds a potential trial applicable to Amy. The trial has shown promise in preventing continued decline of muscle function. </p>
<p>Amy’s mother is relieved she finally has an answer to the cause of her daughter’s disability. Putting a name to it and knowing there are others with this disease comforts her. Of course, knowing potential trials might help stabilise her daughter’s condition leaves her with some hope that continued decline in Amy’s muscle strength is not inevitable.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/203741/original/file-20180129-100912-1axgper.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">Amy’s mother is relieved doctors know what has caused her daughter’s disease.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>That night, after putting Amy to bed, Amy’s mother contemplates trying for a second child. There has been a public debate in Australia about preconception screening, which would allow a mother to abort her fetus if it’s known to be carrying a gene mutation that causes a severe debilitating disease. The debate has concluded that preconception screening is allowed under certain circumstances. </p>
<p>Now that Amy’s mutation is known, preconception screening is an option. Amy’s mother will discuss this with her husband in the morning. </p>
<hr>
<p><strong><em>Read more:</em></strong></p>
<ul>
<li><p><strong><em><a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">What is pre-pregnancy carrier screening and should potential parents consider it?</a></em></strong></p></li>
<li><p><strong><em><a href="https://theconversation.com/what-prospective-parents-need-to-know-about-gene-tests-such-as-prepair-87083">What prospective parents need to know about gene tests such as ‘prepair’</a></em></strong></p></li>
</ul>
<hr>
<h2>Anh’s story</h2>
<p>Anh, a 45-year-old web designer, wants to know more about the prognosis and management of his cancer now that he has had the operation to remove it. </p>
<p>Before the operation, he was examined with the latest nuclear-medicine-based imaging technologies. This includes imaging at the molecular level with state-of-the-art scans that have been subsidised through Medicare. Specialist radiologists examined the results using high-resolution smart sensing imaging software to look for any spread of tumour (the software can sense known tumour markers).</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/203740/original/file-20180129-100899-j2zghk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Ahn’s cancer has been completely removed and the doctors are confident it hasn’t spread anywhere else.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
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<p>Anh had also had his blood examined by molecular pathologists who looked for any tiny bits of tumour DNA circulating in his blood. In 2018, this technology (known as a liquid biopsy) was only just starting out and used in very few places as it required specialist molecular knowledge. It was purely a research tool, unfunded by Medicare and not approved for use in a diagnostic laboratory setting.</p>
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Read more:
<a href="https://theconversation.com/a-new-blood-test-can-detect-eight-different-cancers-in-their-early-stages-90221">A new blood test can detect eight different cancers in their early stages</a>
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<p>Anh’s treating team used a combination of information to feel reasonably confident there was no evidence of any tumour spread prior to his operation. Unfortunately, the sensitivity of these tests is still not yet at 100%, so ongoing follow-up will be required.</p>
<p>At the time of the operation, specialist hospital pathologists examined part of Ahn’s lung affected by the tumour. They performed tests that looked at the entire makeup of the tumour, which yielded lots of information to compare with the world literature and international database for the same tumour, including its specific markers. </p>
<p>Tumour markers are the unique aspects of DNA and proteins that make the tumour “signature”. Drugs can then target and block some of these specific markers to prevent the tumour from progressing, or even to destroy the tumour. </p>
<p>Mutation of the tumour over time and changes in the molecular markers remain a problem. This has been an ongoing area of research, central to government funding policy, for the past ten years. It takes many years and a large amount of expertise and money from the time of finding a target to developing and trialling drugs. </p>
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<a href="https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/203932/original/file-20180130-170410-17809mh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Anh had a number of state-of-the-art scans that his team used to make more precise decisions on his condition.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
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<p>In 2018 only 10-15% of patients with lung cancer had a <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1713137">tumour molecular target</a> that had an available drug that could work on it. In 2030, that rate is much higher.</p>
<p>Anh asks his oncologist what he expects will happen to him in the future. The doctor explains each individual needs to be seen in his own right despite the collective world of data about his tumour. He says the presence of this new gene marker will be fed into a research and trials database to find what is happening in the world in relation to drugs targeting this novel marker.</p>
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Read more:
<a href="https://theconversation.com/how-cancer-doctors-use-personalised-medicine-to-target-variations-unique-to-each-tumour-47349">How cancer doctors use personalised medicine to target variations unique to each tumour</a>
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<p>For now, Anh has a good outlook. The results of the analysis of his lung tumour in the pathology department – which looked at key issues like the tumour type and size and whether it has been removed completely or entered small vessels – and the examination of the molecular signature of the tumour are all entered into the diagnostic algorithm based on global data. It has suggested the chances of Anh’s tumour coming back within five years are around 5-10%. Pretty low.</p>
<p>The oncologist tells Anh he is free to go back to work. He will monitor him with regular blood checks aimed at markers for his specific tumour. Now that these are known, the specific test can be individualised to Anh’s tumour. The hand-held screening gadget can send the information straight to the specialist’s office, so he will be notified automatically in the event of change. </p>
<p>Precision medicine has truly made a difference in the lives of millions of people around the world. While there are still many issues to be fixed, including adequate funding for further research continuing on from the new information provided, appropriate drug trial funding and ethical issues, the future is looking brighter.</p>
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<p><strong><em>Read the other articles in our <a href="https://theconversation.com/au/topics/precision-medicine-series-49226">precision medicine package here</a>.</em></strong></p><img src="https://counter.theconversation.com/content/90539/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Catriona McLean 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>In 2030, there is a boom in precision medicine, where diseases – from cancer to dementia – are defined and targeted more specifically with a focus on their molecular makeup.Catriona McLean, Professor, Central Clinical School, Monash UniversityLicensed as Creative Commons – attribution, no derivatives.