{"id":45061,"date":"2019-07-11T17:21:28","date_gmt":"2019-07-11T16:21:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/bmj\/?p=45061"},"modified":"2019-07-16T14:42:31","modified_gmt":"2019-07-16T13:42:31","slug":"edward-hockings-genomic-sequencing-a-brave-new-world","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/bmj\/2019\/07\/11\/edward-hockings-genomic-sequencing-a-brave-new-world\/","title":{"rendered":"Edward Hockings: Genomic sequencing, a brave new world"},"content":{"rendered":"<p class=\"standfirst\"><span style=\"font-weight: 400\">The potential benefits and dangers of the NHS&#8217; work with genome data demand a well educated, informed, and engaged public debate about policy, says Edward Hockings<br \/>\n<!--more--><\/span><\/p>\n<p><span style=\"font-weight: 400\">The introduction of genomics and AI enabled healthcare into the NHS marks the beginning of what could be a new era of personalised and preventative healthcare, catalysing a transformation of public health through early diagnosis and disease prevention. But the reality is that no one can be sure about the clinical benefits of genomics. Despite committing \u00a3500 million, which will soon rise to \u00a31.1 billion, the government acknowledges that the <\/span><a href=\"https:\/\/assets.publishing.service.gov.uk\/government\/uploads\/system\/uploads\/attachment_data\/file\/725632\/Government_Response_to_the_Genomics_and_Genome_....pdf\"><span style=\"font-weight: 400\">&#8220;evidence for its clinical utility will continue to evolve<\/span><\/a>.&#8221;<span style=\"font-weight: 400\">\u00a0The question then is: what explains such expenditure at a time of austerity?\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400\">Dedicated to understanding the function, mapping, and editing of genomes; genomics is a young, but unquestionably cutting edge science. And the UK is at the forefront of its development. The recently introduced <\/span><a href=\"https:\/\/www.economist.com\/britain\/2018\/09\/29\/the-nhs-genomic-service-could-transform-medicine\"><span style=\"font-weight: 400\">Genomics Medicine Service<\/span><\/a><span style=\"font-weight: 400\"> makes the<\/span><a href=\"https:\/\/www.england.nhs.uk\/blog\/genomic-revolution\/\"><span style=\"font-weight: 400\"> UK the first country<\/span><\/a><span style=\"font-weight: 400\"> to offer <\/span><a href=\"https:\/\/www.telegraph.co.uk\/news\/2018\/10\/01\/cancer-patients-promised-diagnosis-within-three-weeks\/\"><span style=\"font-weight: 400\">genome testing as part of national healthcare<\/span><\/a><span style=\"font-weight: 400\">. Its initial goal: transformation of the diagnosis and treatment of cancer and rare diseases. The <\/span><span style=\"font-weight: 400\">Genomics Medicine Service<\/span><span style=\"font-weight: 400\"> is a byproduct of the recently completed 100,000 Genome Project\u2014an effort to sequence the genomes of NHS cancer and rare disease patients\u2014which has spawned the recently announced <\/span><a href=\"https:\/\/www.gov.uk\/government\/news\/matt-hancock-announces-ambition-to-map-5-million-genomes\"><span style=\"font-weight: 400\">5 million Genome Project<\/span><\/a><span style=\"font-weight: 400\">. As part of the 5 million Genome Project, healthy NHS users will be given the option of having their genome analysed for their level of risk to developing certain conditions\u2014in turn, their genomic data will be shared with researchers and industry.<\/span><\/p>\n<p><span style=\"font-weight: 400\">Linking genomic data to health information, such as medical records, could help us to identify variations that could illuminate the causes of disease and the level of risk a person has of developing it. If clinicians have access to such information, it may give them increased precision in choosing which treatments work best for their patients, since the effectiveness of treatments often varies based on genetic factors. In theory, national genome projects are fantastic: participants have their genome sequenced in the hope of some personal benefit and for the advancement of science.<\/span><\/p>\n<p><span style=\"font-weight: 400\">But there is always more to the story.<\/span><\/p>\n<p><span style=\"font-weight: 400\">The 5 million Genome Project marks, in the government&#8217;s own words, the &#8220;<\/span><a href=\"https:\/\/www.newsweek.com\/google-patient-genomic-data-should-we-be-worried-631652\"><span style=\"font-weight: 400\">acceleration of industrial usage<\/span><\/a><span style=\"font-weight: 400\">&#8220;. Private sector interest in the 100,000 Genome Project has already been far-reaching. The Department of Health has held <\/span><a href=\"https:\/\/www.theguardian.com\/science\/political-science\/2016\/mar\/15\/the-government-seem-more-interested-in-our-genes-than-our-voices\"><span style=\"font-weight: 400\">meetings with Google<\/span><\/a><span style=\"font-weight: 400\">, which has an &#8220;interest in the data that Genomics England is collecting&#8221;. Google and Genomics England have also met to discuss <\/span><a href=\"https:\/\/www.dailymail.co.uk\/sciencetech\/article-4665214\/Google-soon-access-genetic-patient-data.html\"><span style=\"font-weight: 400\">\u201cusing Google\u2019s artificial Intelligence firm DeepMind, among other subjects\u201d<\/span><\/a><span style=\"font-weight: 400\"> to analyse genomic data. In light of the government&#8217;s plans to &#8220;maximise the commercial value of the data&#8221;, private sector activity in this area is set to intensify.<\/span><\/p>\n<p><span style=\"font-weight: 400\">Whilst commercialisation can drive innovation, it can be a double-edged sword. A vivid illustration of this is the distortion of the evidence on which medicine is based by the pharmaceutical industry, regarding which Ben Goldacre commented \u201c<\/span><a href=\"https:\/\/www.badscience.net\/2012\/09\/heres-the-intro-to-my-new-book\/\"><span style=\"font-weight: 400\">the whole edifice of medicine is broken<\/span><\/a><span style=\"font-weight: 400\">.\u201d Although it is imperative that the public plays a central part in deciding how genomic information is used and with whom it is shared, once the government gets too involved with the private sector, the public might struggle to stay involved in decision-making.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400\">The crucial issue, I believe, is that we can expect genome sequencing on a national scale to go beyond its original aims. Genes are not everything. Employers and educational institutions may nonetheless see genetic information as having a predictive value, and require &#8220;polygenic scores.&#8221; A new kind of genome analysis which measures disease susceptibility and genetic variants linked to complex human traits, such as intelligence. Life insurers have, in most cases, already made the disclosure of any previous genetic tests obligatory. Like everything, a brave new world of national genome sequencing and genetic scoring will be good and bad\u2014and it will have profound implications.<\/span><\/p>\n<p><span style=\"font-weight: 400\">If the public is going to be given a voice in such developments, then countries with a history of democracy must lead the way. We are <\/span><a href=\"https:\/\/petition.parliament.uk\/petitions\/262160\"><span style=\"font-weight: 400\">campaigning for the UK government <\/span><\/a><span style=\"font-weight: 400\">to pledge just 1% of their spending for bioscience R&amp;D and infrastructure on \u201c<\/span><a href=\"http:\/\/www.ethicsandgenetics.org\/doc\/Petition.pdf\"><span style=\"font-weight: 400\">public engagement\u2014which means education too<\/span><\/a><span style=\"font-weight: 400\">\u201d\u2014and urge the life sciences industry to match that spending. This should include national, awareness raising campaigns. Workshops which bring the debate to life in schools, colleges, and universities\u2014facilitated online\u2014along with television campaigns and programmes featuring some of the brilliant minds that work both within the field and outside of it, would help to get the public up to speed on the science and ethics of genomics and gene editing. We have to rise to the challenge of getting bioscience policy right.<\/span><span style=\"font-weight: 400\">\u00a0<\/span><\/p>\n<p><b><i>Edward Hockings<\/i><\/b><i><span style=\"font-weight: 400\"> is the director of EthicsAndGenetics, an independent, non-profit organisation<\/span><\/i><\/p>\n<p><b><i>Competing interests:<\/i><\/b><i><span style=\"font-weight: 400\"> None further declared<\/span><\/i><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The potential benefits and dangers of the NHS&#8217; work with genome data demand a well educated, informed, and engaged public debate about policy, says Edward Hockings [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/bmj\/2019\/07\/11\/edward-hockings-genomic-sequencing-a-brave-new-world\/\">More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":45062,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[223,5760],"tags":[],"class_list":["post-45061","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-guest-bloggers","category-medical-ethics-2"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - 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