Recruitment to the project concluded in August, 2018. Results from the project are still being delivered. The goal of the project, to sequence 100,000 human genomes, was reached in December, 2018.
Thirteen Genomic Medicine Centres (GMCs) from around England (and later on from the devolved UK nations) were involved in recruiting patients with either a cancer or a rare genetic disorder. These patients went on to have their entire genomes sequenced.
A company called Genomics England, owned by the Department of Health, was set up to run the project. To run alongside it, a Masters programme in Genomic Medicine was set up in 6-8 sites in England. One of the participating Genomic Medicine Centres (SouthWest Peninsula) was based at the Royal Devon and Exeter NHS Foundation Trust.
The goal of the project was to transform the NHS, bringing genetics to mainstream medicine, allowing for the development of new therapies for cancer and rare disorders. The term for this is “precision medicine”. Genetic information has the capability to predict which individuals will respond best to which cancer therapeutic agent, which drug side effects they may be at risk of developing, and the sub-type of rare genetic disorder which they have.
Patients who were eligible to participate in this project were either those with a recent diagnosis of one of a defined set of cancers (for example, breast cancer, lung cancer; there are several others); or, secondly, a rare disorder (examples: a congenital malformation, a rare syndrome with learning disability, or a rare neurological disorder). There are literally thousands of rare disorders, individually very rare, but collectively common – Rare Disease UK found that 1 in 17 individuals in the UK is affected by a rare disorder. Participating GMCs are able to ‘nominate’ specific rare disorders which Genomics England will then consider and, if appropriate, approve.
Charles Shaw-Smith was actively involved in the project as Rare Disease lead for the SouthWest Peninsula Genomic Medicine Centre.