The UK House of Lords Science and Technology Committee has published a new report, Genomic Medicine, the result of a long-running inquiry into recent advances in genomics and related fields and their implications for healthcare, the UK Government and the National Health Service (NHS). It calls for a new Government White Paper to update the 2003 Genetics White Paper, since rapid scientific developments have greatly widened the potential applications of genomics for health care from the earlier focus on the management of rare single-gene disorders to 'patient care across the NHS' (see press release). It is recommended that the new White Paper should include the Department of Health’s plans to facilitate the translation of genomic advances into mainstream clinical practice, including a long-term funding programme.
The overarching aim of the PHG Foundation is to drive the effective translation of genomic understanding and innovation into improved healthcare (see About us), including efforts to eliminate unnecessary delays in this process. Our submission of evidence to the House of Lords inquiry drew attention to the current lack of resources devoted to the essential final stages of clinical translation typified by the practice of public health genomics, including clinical and public policy development, service review and reorganisation, and health service staff education and training (see previous news).
The Committee recognises the existence of some of these barriers to translation within the NHS (see section 3.6 of the report), recommending that the National Institute for Health Research (NIHR) should make funding available specifically for research into the use of genomic tests within the NHS, and that the Office for Strategic Coordination of Health Research should outline a strategic vision to overcome translational barriers. The report also proposes that the NIHR should regularly monitor ‘developments in genomic medicine and their implications for the NHS now and in the future’ (see section 4.6), although whether a body whose function is to create and support health research can provide a suitably holistic overview of implications (for example, including ethical, legal, social, practical and clinical issues arising from new technologies) is debatable.
The PHG Foundation project Cell-free fetal nucleic acids for non-invasive prenatal diagnosis was cited by the report as an exemplar of the development, evaluation and implementation of new genetic technologies into healthcare (see submission of evidence on this issue) and our separate recommendations on the need for the development of new service models for the application of genomics in mainstream medicine duly noted. The Committee recommends that ‘the Secretary of State for Health should ensure that any necessary NHS operational changes, as a result of a shift in the provision of genomic services to mainstream medicine in the NHS, are implemented in the NHS’ and suggests that to facilitate this process ‘the Secretary of State should identify whether the NHS is fit to handle such changes and also what new service models are needed’ (see section 4.19).
Although their recommendations have a particular focus on translational research (as opposed to end-stage translation into clinical practice), the Committee does acknowledge that significant policy development and operational changes would be required to deliver equitable and cost effective genetics services, noting the need for updated commissioning procedures for new genetic tests, consolidation of laboratory services, and new efforts to integrate genetic information with other medical records and data.
With respect to genetic testing, the report recommends that the remit of the National Institute for Health and Clinical Excellence (NICE) should be extended ‘to include a programme for evaluating the validity, utility and cost-benefits of all new genomic tests for common diseases, including pharmacogenetic tests’ (section 3.38 of the report), referring to the requirement to assess clinical validity and utility in specific clinical pathways noted by the 2008 PHG Foundation / Royal College of Pathologists document The evaluation of diagnostic laboratory tests and complex biomarkers (see section 3.28 of the report). The report also considers in more detail concerns about privacy and issues surrounding the appropriate regulation of genetic tests (including direct-to-consumer tests), supporting the Human Genetics Commission’s intention to develop a voluntary code of practice for DCT providers and calling for this to include a requirement for firms to publish details of the effectiveness of the tests they offer.
The PHG Foundation will issue a formal response to the Genomic Medicine report in due course.