Referring a patient – project closure timelines

National Closure:  Enrollment to the Rare Disease arm of the 100,000 Genomes Project is due to close nationally on the 30th September 2018.  The project has now enrolled over 60,000 patients and family members nationally into the rare disease arm so many thanks to all who have contributed to the successful completion of this part of the project.

WE GMC pause for new referrals: Thanks to the positive engagement from our local rare disease clinical teams, the West of England Genomic Medicine Centre has now received a large volume of referrals of patients to be considered for eligibility to the 100,000 Genomes Project. Our priority is to ensure that the people who have already been referred have the opportunity to take part, if eligible. We have therefore paused accepting new rare disease referrals from 21st May 2018 whilst we consider all referred patients to date.  The rare disease referral and consenting team in the West of England Genomic Medicine Centre are working hard to ensure all patients referred to the project to date are reviewed and when appropriate contacted to be offered the opportunity to enter 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.

For patients with queries:


For general queries please contact us at: 


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