Embedding genomics in the UK health system

The PHG Foundation was originally established in 1997 as one of the two international founding centres for public health genomics, recognising the potential value of genomics to improve health not just via medicine but also public health practice. This commitment to realising the benefits of genomics has been the basis for an active and ongoing process of policy development to underpin the application of genetics and genomics within the UK National Health Service (NHS).

Setting the scene for genomic medicine

In July 2009, the UK House of Lords Science and Technology Committee released a report that called for the development of a strategic vision for genomic medicine in the UK. Besides contributing to the original enquiry, the PHG Foundation, working in collaboration with the Centre for Science and Policy (CSaP) at the University of Cambridge, convened a broad group of expert contributors including scientists, clinicians and policy makers to produce an independent expert response.  Our 2010 Genomic Medicine report to the UK Government provided important recommendations for the strategic development and successful implementation of genomic medicine within the UK.

The impact of whole genome sequencing

In 2011 we issued a major report, the world's first analysis of the likely impact of recent developments in rapid, low-cost whole genome sequencing technologies on health services, especially in terms of increasing opportunities for personalised medicine and the management of rare inherited diseases and cancers. Next steps in the sequence also highlighted crucial challenges this would pose for the UK health system, and made recommendations to address these.

Embedding genomics in mainstream medicine

In the same year we published a new strategy for the most effective use of genomic knowledge and technologies in different clinical specialties beyond inherited diseases and cancer. Genetics and mainstream medicine provided a blueprint for other areas such as cardiology, ophthalmology and renal disease to develop their own capacity for genetic diagnosis to improve patient care.

This strategy led to a specialised workshop organised by the Joint Committee on Medical Genetics of the Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics, in conjunction with the PHG Foundation and the National Genetics Education and Development Centre. The findings of this expert meeting, which encompassed fifteen separate clinical specialties, are set out in the 2012 report Genomics in Medicine. This pointed the way forward for effective integration of genomic medicine across the whole NHS.

These important policy developments provided a major contribution to the UK Government’s advisory body the Human Genomics Strategy Group (HGSG), whose final recommendations gained broad grass-roots endorsement from relevant professional groups. The HGSG gave way to the UK 100,000 Genomes Project led by Genomics England.

Moving forward, the PHG Foundation continues to be at the forefront of strategic developments in genomic medicine.