Genomics England (GeL) was set up in 2013 with the aim to sequence 100,000 genomes in rare diseases and cancers from 85,000 patients by the end of 2017 (the 100,000 Genomes Project). This was part of the Government’s strategy to deliver genomic medicine and bring the benefits of more personalised diagnosis and targeted therapy to the NHS.
UCLH, as part of the North Thames Genomics Medicine Centre (NT GMC), was one of the major recruiters for the project, identifying, enrolling and consenting patients with breast, bowel, ovarian and lung cancers and leukaemia, and people with rare genetic diseases and their relatives. By collecting and analysing DNA samples such as blood and tissue samples on a large scale and matching them with the symptoms and the long-term outcome associated with these conditions, the information was combined with data from the person’s medical records, thus creating a ‘lifecourse picture’ of the disease.
Researchers and clinicians, from both academia and the NHS, were then brought together to continually analyse data from the 100,000 Genomes Project through the Genomics England Clinical Interpretation Partnership (GeCIP). The researchers have formed groups or ‘domains’, with each GeCIP domain covering a different disease or topic in the project. The groups are focused on interpreting the data to improve clinical care but will also undertake complementary research – this includes medical, computational and social research.
CRIU deployed the infrastructure for phase 2 of the 100,000 Genomes Project, providing Pathology, Cancer and Radiology pipelines into an OpenEHR system to be submitted nationally by the GMC Data Repository application (GENIE).
