100,000 Genomes Project

The 100,000 Genomes Project is a genomics initiative launched by the UK government in 2012. The project aims to sequence 100,000 whole genomes from NHS patients with a rare disease, plus their families, and patients with common cancers.

Background

The 100,000 Genomes Project is managed by Genomics England, a company owned by the Department of Health and Social Care. The project was announced by then-Prime Minister David Cameron in December 2012, with the goal of sequencing 100,000 whole genomes from NHS patients by 2017. The project is focused on patients with rare diseases, and their close relatives, as well as patients with common cancers.

Project Goals

The primary goal of the 100,000 Genomes Project is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments. The project also aims to enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will 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.

Progress and Results

As of 2018, the project had sequenced 100,000 genomes from around 85,000 NHS patients. The data from the project is being used to create a resource for researchers, who will be able to access the data for their studies into human genetics and disease.

See Also

• Genomics England
• Genome sequencing
• National Health Service