As a way to better the development of novel diagnostics to detect and diagnose genetic diseases, the US Food and Drug Administration (FDA) on Tuesday for the first time formally recognized a public database with gene and genetic variant data.
The recognized database is the Clinical Genome Resource (ClinGen) consortium’s ClinGen Expert Curated Human Genetic Data, which is funded by the National Institutes of Health (NIH).
The database is now recognized as a source of valid scientific evidence that can be used to support clinical validity in premarket submissions. This means that genetic test developers, including developers of next-generation sequencing tests, will be assured of the reliability of the data, and they can use it in support of their applications for marketing authorizations with the agency, rather than generating the same data on their own.
“For example, the sponsor of a test that detects variants involved in hereditary cardiomyopathy could point to the cardiomyopathy genetic variant information available in ClinGen as part of a submission to support clinical validity of their test,” FDA explained.