About the rare disease programme

Which rare diseases were included?

Over 190 rare diseases were included in the Project. People invited to take part were thought to have one of these conditions. People who were invited to take part may have had a provisional diagnosis, but not a molecular diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms.

Rare Disease Documents

Project guide leaflets by speciality

Eligibility Guides to the 100,000 Genomes Project, by disease type:

• Cardiologists’ guide (Word) | Cardiologists’ guide (PDF)
• Dermatologists’ guide (Word)
• Neurologists’ guide (Word)
• Ophalmologists’ guide (Word)
• Renal disease guide (Word)
• Respiratory disease (Word)

• Eligibility Wheels  (via HEE website, opens in a new tab) – tools to help identify eligible participants

Documents & useful links

• Rare Disease Eligibility Criteria
• List of Rare Diseases GMC version (PDF)
• Rare Disease Data Models (PDF)
• Latest Rare Disease Conditions Model Pack (ZIP)
• Guidelines on who to recruit from a rare disease family (PDF)
• Guidelines for rare disease model development and review (PDF)
• Genomics England Rare Disease Results Guide  (PDF)
• The 100,000 Genomes Project Protocol

More information

Sample handling guidance

View the current sample handling guidance. Covers both rare disease and cancer.

Data submission guides

Includes guides to LabKey, Open Clinica, BuRST messaging, UAT and more.

FAQs

Frequently asked questions on eligibility, recruitment, consent, samples, results and analysis.

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