Experts call for prompt, realistic approach to genomic medicine

18 May 2010

The potential role of genomics in medicine is changing rapidly as technological developments make quick, affordable genome sequencing increasingly feasible. Governments, health services, doctors, scientists and the wider public around the world are interested in how genomic medicine is likely to develop. In the UK, the House of Lords Science and Technology Committee led a consultation on this issue, resulting in the publication of the report Genomic Medicine in July 2009 (see previous news). This report looked at the implications of advances in genomics for UK health services. A subsequent Government response in December 2009 largely failed to engage with the urgency of recommendations in the original Report (see previous news), though it did make a commitment to establish a new cross-departmental Human Genomics Strategy Group (HGSG) charged with developing a strategic vision for genomics in the National Health Service (see GenomeWeb news).

Meanwhile, the PHG Foundation was leading an initiative to produce an independent expert response, in collaboration with the Centre for Science and Policy (CSaP) at the University of Cambridge. This new publication, Genomic Medicine: An Independent Response to the House of Lords Science and Technology Committee Report sets out the findings from a group of leading scientists, clinicians, policy makers and experts in ethics, law and social science, and their key recommendations for the strategic development and successful implementation of genomic medicine within the UK.
 
It finds that the original Government report overestimated the likely importance of genomics for the prediction and prevention of common complex diseases, whilst simultaneously failing to recommend action to realise the immediate potential of genomics to deliver improved diagnosis and care for individuals and families affected by single gene disorders and inherited subsets of complex disease, despite ample evidence of demonstrable health benefits.
 
In an attempt to redress the limitations of the original report and subsequent Government response, the new Report sets out twelve key recommendations for the prompt and effective development of genomic medicine within the NHS for the benefit of patient health. These include:
  • Urgently needed mechanisms for evaluating genetic tests and analyses
  • Creation and maintenance of new IT and informatics systems
  • Development of ethical codes for the storage, access and use of genomic tests and data
  • Investment in translational research
  • Public engagement
PHG Foundation Head of Science Caroline Wright commented: “We desperately need the equivalent of clinical trials for diagnostics. There’s an implicit assumption that testing is good, that knowledge is power, but the key question is does a test result helpfully change the management of a patient? If not, it is a waste of money. When public money is being spent, it must be spent sensibly to get better care outcomes. It’s really important that anything funded by health systems has evidence behind it” (see Times news report).
 
Launched today (see press release), the Independent Response will be presented to members of the HGSG later this month in advance of their inaugural meeting. Following on from this work, the PHG Foundation has initiated a major new programme to consider the implications of next generation high-throughput genome sequencing technologies for medicine and public health in greater detail, whilst the Centre for Science and Policy is launching a new Centre Interest Group on the $100 Genome, which will work in partnership with the PHG Foundation to bring together experts to explore the implications of low-cost full-genome sequencing in the near future.

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