Project Closure

National Closure:  Enrollment to the 100,000 Genomes Project has now closed nationally.  The project has now enrolled over 70,000 patients and family members nationally into the rare disease arm and over 30,000 cancer samples have been collected – so many thanks to all who have contributed to the successful completion of this part of the project.

For clinical colleagues:

  • Please continue to let us know about any urgent requests or if you have specific queries about your patients in the Project, and we will endeavour to answer these as soon as possible.
  • Please note genetic testing for rare disorders continues to be available through the NHS regional genetic laboratory network, and the West of England Genomic Medicine Centre and our laboratory partners will communicate more information about how to access the new NHS genetic testing service as soon as this information is available.
  • We have produced a short update summary of the results return process and information regarding the future genomic medicine service for clinical colleagues.  Please follow the links below to download the summaries:

For patients with queries:


For general queries please contact us at: 


More information about the 100,000 Genome Project is available at