What will be the Impact of the $100 Genome?

To mark the launch of the Centre Interest Group on Genomic Medicine, the CSaP hosted a dinner discussion on 12 May at Queens' College, Cambridge. Sir Mark Walport led the discussion.

"Every so often a scientific advance offers new opportunities for making real advances in medical care... sequencing of the human genome and the knowledge and technological advances that accompanied this landmark achievement represent such an advance."

This - the headline conclusion of the House of Lords Science & Technology Committee's 2009 report Genomic Medicine - formed the starting point for a series of workshops hosted by the PHG Foundation and the CSaP between January and March this year. The results of these workshops were published on 18 May in the PHG Foundation's report Genomic Medicine: An Independent Response which warns that "while the rate of scientific and technological progress has been underestimated the importance of genomics for the prediction and prevention of common complex diseases has been overestimated." It also proposes that there should be a focus on areas such as implementing tests and services for inherited diseases where evidence for health benefits already exists and that an independent body should be created to evaluate the effectiveness of diagnostic testing.

The Centre for Science and Policy's role in this response was to co-ordinate and host a series of five day-long workshops involving a wide range of independent experts - medical researchers clinicians epidemiologists informaticians social scientists ethical and legal experts and NHS policy makers - designed to gather the full spectrum of expertise and focus it on generating practical recommendations for government and other policy groups. The positive experience of bringing together leading interdisciplinary experts on genomic medicine and the clear and concrete results of so doing have led to a demand for more work in this area. We are therefore continuing our partnership with the PHG Foundation through the formation of the $100 Genome Centre Interest Group (CIG) to explore the potential policy impacts of high-throughput sequencing and the opportunities for health benefit wealth creation and possibly even savings in healthcare costs which it may present in the long term.

To mark the launch of the PHG Foundation's report and the formation of the CIG the CSaP hosted a dinner discussion on 12 May for over 60 international experts from public health genetics bioethics health economics epidemiology pharmaceutical/biotech NGOs and national funding bodies together with senior policy makers from the Department of Health. The participants discussed a keynote speech by Sir Mark Walport Director of the Wellcome Trust which was one of the leading UK funders of the original human genome project. Although producing the first human genome cost billions of dollars the $100 genome is now a feasible prospect. Sir Mark emphasised that "there should be no limit to discovery with respect to health and disease"; applications of genomic sequencing for health he argued do not raise any fundamental new ethical issues not previously explored within the context of either clinical genetics or medical imaging. "Genetic research and discovery must not be limited" he concluded "but findings must be used responsibly"; legal constraints would be appropriate to prevent some possible abuses such as identity theft but ultimately self-regulation in a free global market might be the best way to realise the clinical social and research benefits of these breakthrough technologies.

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