Even though the strategy was published only two and half years ago, it didn’t come out of the blue: a number of foundational proof-of-principle projects were already underway. If we take data as an example, in addition to the UK Biobank which was started back in 2007, in 2013 the UK government incorporated Genomics England. A company wholly owned by the Department of Health and Social Care (a UK government ministry), Genomics England was set up to deliver the 100,000 Genomes Project, an ambitious undertaking to sequence 100 thousand whole genome sequences from NHS patients with rare diseases and some common cancers.
With translation at its core, Genomics England aims to bring sequencing technology into the NHS and, as a company, was specifically designed to be flexible to the market and to work with researchers and companies to share and work on the genomic data it produced.
With 100,000 genomes now sequenced, in 2018 UK Secretary of State for Health, Matt Hancock, announced that government intended to sequence an additional 1 million whole genomes, split across the NHS (via Genomics England) and UKBB, and he also announces that from 2019 all seriously ill children with a suspected genetic disorder, including cancer, would be offered whole genome sequencing by the NHS.
The NHS is building a genomics-based service to translate genomics into the healthcare practice. The NHS Genomics Medicine Service, working closely with Genomics England will work to identify potential patients and, importantly, to develop appropriate methods to feedback results through clinicians and genetics councillors.
As CEO of a company focused on developing polygenic risk score (PRS) technology for use across a range of scales, from the population to the individual, I’m also incredibly excited about recent announcements by the UK government of the Accelerating the Detection of Disease (ADD) project. This initiative aims to perform millions of PRS on individuals with the option of re-contact so that the results can be explained and integrated into disease prevention and early identification strategies.