100 000 Genomes Project

100 000 Genomes Project

The 100,000 Genomes Project was set up for NHS patients who have certain rare diseases and their families and for NHS patients with some kinds of cancer. Run by Genomics England, the Project involved whole genome sequencing to identify causes, treatments and diagnostic tools for different diseases. The Project aimed to facilitate research to further our understanding of health and disease, and how to best implement genomics into healthcare. Patients were  invited to take part by their hospital doctor or healthcare professional.


The 100,000 Genomes Project enrolment has now closed to all patients


These pages provide information about the project for both clinicians and participants who took part in the 100,000 Genome Project through two of the thirteen Genomic Medicine Centres set up by NHS England.  The South West Genomic Medicine Centre and the West of England Genomic Medicine Centre.  The contacts for any queries related to the project are in the blocks to the left of the page


Latest Update


  • Referrals to the Rare Disease arm of the project ceased on 31st August 2018 and to the Cancer arm of the project on 31st December 2018.
  • All Main Findings, results relating only to the patient’s rare disease or cancer, should be returned to clinical teams during 2020. Some results may be issued later as a result of the impact of the COVID-19 pandemic

  • Additional Findings and Reproductive Findings will be released when all Main Finding results have been issued

  • Individuals who took part when they were 15 or under and now turn16 will be contacted by a member of the team to ask if they would now like to be enrolled as an adult

  • Please note genetic testing for rare disorders and cancers continues to be available through the NHS regional genomic laboratory network.




West Of England Genomic Medicine Centre Contact Info

South West Genomic Medicine Centre Contact Info