On December 4, 2018, the FDA announced recognition of the ClinGen Clinical Genome Resource as a resource for clinicians and developers of genetic tests. This database is the first genetic variants database to be recognized by the FDA per the guidance “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics”. Recognition means that the data in the Resource may be used to support clinical validity of tests proposed for “germline variants for hereditary disease where there is a high likelihood that the disease or condition will materialize given a deleterious variant (such as high penetrance)”.  Recognition also means the Resource needs no further review when included in a submission for a genetic test for such germline variants. The Resource may be access through ClinVar, the publicly available human genomic variation database maintained by the National Institutes of Health.

The goal of the Database Recognition Program is to “encourage database administrators to submit genetic variant information to publicly accessible databases, which could help reduce regulatory burdens on test developers and spur advancements in the evaluation and implementation of precision medicine”. Read this page to learn more about the program, read a list of the approved databases, and find out how to apply for database recognition.

Text Copyright © 2018 Katrina Rogers