Variant Discovery and Clinical Interpretation community

There are over 7000 recognized rare diseases which collectively impact 1 in every 17 people. The typical diagnostic journey spans eight years, and requires numerous medical assessments, resulting in a delay of optimal treatment. Genomic research is transforming our ability to diagnose rare disease and to optimize treatment for individual patients.

Research in this community will strive to provide molecular diagnoses for participants by identifying or validating variants that explain previously undiagnosed cases and feeding these discoveries back into clinical practice via the appropriate pathways. New tools and data will be leveraged to tackle challenges and improve of ability to rapidly and reliably identify disease variants.

• New associations between a clinically defined phenotype and a genetic variant or variants, which explain previously undiagnosed cases.
• Identification of disease variants and disease mechanisms that inform clinical action and facilitate personalised treatment.
• Development of orthogonal tests for pathogenicity to ascertain the significance of novel variants, supporting screening, early diagnosis and early treatment of disease.
• Development of tools and resources to support diagnostic discovery.

• Sharing best practice and findings in the Diagnostic Discovery space, including between GEL, NHS and the Research Network.
• Identification of more participants with the genetic variants of interest.
• More granular and richer phenotypic descriptions of rare disease cases (e.g. through HES data/GP data, etc.), to uncover potential hidden disease-associated genomic variation.
• Tools to identify and predict the effect of splicing variants, epigenetic variants, non-coding variants, structural variants, etc.