What does my specialist doctor need to do?


If you are a specialist who wish to recruit one of your patients to the Rare Diseases 100,000 Genomes Project you need to:

  • Refer your patient to the EEGMC site nearest to you.
  • Agree to complete the clinical details of the patient within 6 weeks of the patient providing a blood sample using the phenotyping proformas provided by Genomics England
  • Feedback results when they become available, to the families and refer families on for specialist care where appropriate in the light of results.