The national 100,000 Genomes Project was set up to sequence 100,000 genomes from around 85,000 NHS patients affected by a rare disease, or cancer which offered the opportunity for an in-depth look at the genomic profile of patients, in support of advanced diagnosis and resulting personalised healthcare.

As a result of the project, patients have been offered a diagnosis where there wasn’t one before and in time, there will continue to be the development of new and more effective treatments.  The project also enabled new medical research. Combining genomic sequence data with medical records in the NHS developed a ground-breaking resource for researchers with ethical approval to study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis, and treatment of disease will also be investigated.

As part of the 100,000 Genomes Project, participants were asked if they wanted to look for additional health information in their genome sequence: ‘additional findings’ which will be shared with participants and the regional Genomic Medicine Service Alliances over the coming months.