About the project

What is the 100,000 Genomes Project

Genes are made up of billions of pieces of DNA that define what we look like, our health, and the way our bodies work.

A genome is one whole set of a person’s genes, plus all the DNA between the genes. Genomics is the study of the whole genome and how it works, but has also come to have a broader meaning to include the way that the genome is interpreted and the technologies that have been developed because of it.

Our knowledge of genetics is increasing quickly. The 100,000 Genomes Project is a ground-breaking initiative that has successfully decoded the DNA sequences of 100,000 genomes from people who have a rare disease or condition, their families, and people with cancer.

The project has the potential to transform the future of healthcare. It could improve the prediction and prevention of disease, enable new and more precise diagnostic tests, and allow personalisation of drugs and other treatments to specific genetic variants. In time, this is also hoped to create potential new treatments.

Project results

We have completed recruiting participants to the 100,000 Genomes Project.

Genomics England will share results of the 100,000 Genomes Project throughout 2019.

There are a number of resources with more information about the project.

If you are interested in taking part in research, see our studies and trials pages for details of open studies.