Making the most of genomics for health

In 2008, the UK House of Lords' Committee on Science and Technology held a Genomic Medicine inquiry to assess the current and future impact of genomic technologies on clinical practice. Many key individuals and organisations submitted evidence to this inquiry, which culminated in the production of a report in July 2009. This found that the rapid pace of development in genomic science called for a new strategy for genomic medicine, and made various recommendations, including that the Government should produce a new White Paper on this issue.

The official Government response to the report in December 2009 was somewhat vague, although it did commit to establishing a cross-departmental Human Genetics Strategy Group (HGSG) with responsibility for developing a vision for genomics in the NHS. Meanwhile, the PHG Foundation (Foundation for Genomics and Population Health) was leading an initiative to produce an independent expert response to the original House of Lords report, in collaboration with the Centre for Science and Policy (CSaP) at the University of Cambridge.

The PHG Foundation's mission is making science work for health; we are the leading UK centre for public health genomics, which is defined as the responsible and effective translation of genome-based knowledge for the benefit of population health. CSaP works to build relationships between policy makers and scientific experts. Together, we held a series of workshops for leading scientists, clinicians, policy makers and experts in ethics, law and social science to consider the issues.

Released on 18 May (and previewed exclusively in the Times newspaper), Genomic Medicine: An Independent Response to the House of Lords Science and Technology Committee Report sets out the recommendations of this group. It found that the original report failed adequately reflect the realities of genomics and health, placing too much emphasis on the prospects for predicting the risk of common diseases for individuals, whilst paying too little attention to the current opportunities to use existing and rapidly emerging genetic knowledge and technologies to improve services for the diagnosis and care for single gene disorders. Although genomics has increasing potential to offer better care for patients outside the traditional sphere of clinical genetics - including through the use of pharmacogenetic tests to improve the efficacy and safety of drug treatments and genetic tests to help identify rarer inherited forms of common diseases such as cancer - risk prediction based on genome profiling has very little utility for individuals.

The PHG Foundation Report makes twelve key recommendations for the strategic development of genomic medicine within the UK, including the need to develop new mechanisms for evaluating all forms of genetic tests and analyses; new IT and informatics systems to store and process genetic data; and new ethical guidelines covering the storage, access and use of genomic tests and data within medical services. Investment in translational research and development is also called for, along with appropriate efforts to educate and engage the public on the genuine risks and benefits of genomics for health.

The Report, which was delivered to members of the HGSG in advance of its inaugural meeting, is available from the PHG Foundation website.