Rare Disease collaboration with the

Genomics England 100,000 Genomes Project 

Recruitment to this study has finished and analysis is underway.

 

Project participants for Scottish participation in the 100,000 Genomes Project who want to find out about the status of their results should contact their local genetics clinic as we do not have this information.

​

One thousand participants were recruited from all over Scotland through the nationally designated NHS Scotland genetics clinics in Aberdeen, Dundee, Edinburgh and Glasgow. Staff at these sites provide genetics services in other NHS Scotland Board areas.

​

Eligible participants (see next slide) were approached through their clinical geneticist or other hospital consultant.

​

Clinicians in other specialties discussed referral of potentially suitable patients with colleagues in the local clinical genetics team.