100,000 Genomes Project

Delivered by the Genomic Medicine Centres

The 100,000 genome project sequenced around 70,000 people.

Participants were NHS patients with a rare disease plus their families or NHS patients with cancer.

The aim was to create a new Genomic Medicine Service for the NHS – transforming the way people are cared for. 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’. This data is being returned to the GMSA over the coming months and outcomes will be shared with participants via their clinicians when available.

Additional Findings

“To continue this multidisciplinary involvement in genomics, the NHSE have plans to develop the GMC work into the GMS Alliance through a procurement exercise in Autumn 2020.”


National Genomic Test Directory

The 2019/2020 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory
GMS Alliance