In this session, we will:
-
Define clinical validity and outline a published method for linking genes to diseases using a weighted scoring system guided by the ClinGen gene curation criteria.
-
Review how this approach is utilized to establish classification criteria of genes for clinical diagnostic exome testing, as well as for establishing multi-gene panel tests.
-
Demonstrate how lab-driven, continuous review of data to reclassify genes based on their clinical validity can impact patients who have previously received negative or inconclusive results.