December 11, 2018
The U.S. Food and Drug Administration today took a significant step forward in driving the efficient development of novel diagnostic technologies that scan a person’s DNA to diagnose genetic diseases and guide medical treatments. For the first time, the agency has formally recognized a public database that contains information about genes, genetic variants and their relationship to disease. The FDA is recognizing the genetic variant information in the Clinical Genome Resource (ClinGen) consortium’s ClinGen Expert Curated Human Genetic Data, which is funded by the National Institutes of Health (NIH), as a source of valid scientific evidence that can be used to support clinical validity in premarket submissions. The information contained in this open database has been collected and studied by researchers across the world. This recognition by the FDA will facilitate test developers, including those that use a technology known as next generation sequencing, to rely on the information available in the database to support the validity of their tests, instead of having to generate the information on their own.