Genomics in the NHS

The main focus of the report is the 100,000 Genomes Project and the various practical and ethical challenges associated with the planned roll-out of the Genomics Medicine Service in the NHS.

The 1 00 000 Genomes Project was launched in 2012 and is the first large-scale whole genome sequencing research study of its kind in the world. The overall objective is to sequence genomes from NHS patients with a rare disease and their families, and from patients with specific cancers. The study seeks to benefit patients by potentially providing a diagnosis, gain new scientific insights, increase public knowledge of genomic medicine, encourage investment, and accelerate the uptake of genomic medicine in the NHS. At the time of writing the project had sequenced over 55 000 genomes and it is expected that the full 1 00 000 will be completed by the end of 2018.

Building on the success of the project NHS England announced the establishment of a national NHS Genomic Medicine Service to provide ‘comprehensive and equitable access to the latest in genomic testing and management for the whole country, regardless of condition and where people live.’2 The service is set to be operational this year.

The committee acknowledged the range of potential benefits that whole genome sequencing could have for patient care, however it also highlighted that there was a currently a lack of ‘sufficiently unambiguous evidence’ for its …