In a first, FDA recognizes genetic database, removing regulatory hurdle

FDA formally recognized for the first time a public genetic database as a valid source of information to support clinical validity in premarket submissions for genetic tests, which could save developers the resources required to collect supporting genetic data.

The agency recognized the database, the ClinGen Expert Curate Human Genetic Data from the NIH-funded consortium Clinical Genome Resources (ClinGen), using criteria outlined in a final guidance issued in April 2018. In the guidance, FDA described its considerations in determining which databases could support clinical validity of a genetic or genomic-based test (see "FDA Streamlining Cancer Diagnostics Development").

At the time, FDA Commissioner Scott Gottlieb said the guidance will “encourage expert-based crowd sourcing of NGS evidence generation, curating, and data sharing.”

If test developers use ClinGen's database to support its premarket submission, they will not be required to demonstrate the reliability of the database.

ClinGen comprises more than 700 clinical and research experts that develop standardized processes to link genetic variants to health and disease.