The Government’s 2013 UK Strategy for Rare Diseases aims to improve the lives all those with a rare disease and is currently being implemented across England. The Strategy covers five areas including the role of research, with significant support from the National Institute of Health Research.
In October 2018, the Secretary of State announced his ambition to sequence 5 million genomes in the next five years including 1 million whole genome sequences. This builds on the success of the transformative 100,000 Genomes Project which recruited people with rare, undiagnosed genetic diseases, and with cancer, and which reached 100,000 sequences in December 2018.
The NHS Long Term Plan published on 7 January sets out the National Health Service’s commitment to research and innovation to drive outcome improvement, including through targeted investment in genomics. It confirmed that the new NHS Genomic Medicine Service will sequence 500,000 whole genomes by 2023/24 as part of the NHS’s contribution to the Government’s ambition for genomics. The NHS has become the first national health care system to offer whole genome sequencing as part of routine care. Another 500,000 whole genomes will be sequenced through UK Biobank as was announced in the 2017 Life Sciences Sector deal. Together, these activities will significantly increase the volume of high-quality genomic data for research to advance our knowledge to diagnose and treat rare diseases and other conditions to complement the research dataset already generated by the 100,000 Genomes Project.