FDA Formally Recognizes First Public Genetic Database
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.
In its recognition of ClinGen, FDA reviewed “variant classifications and the processes that support them for gene changes in reproductive cells (germline variant) in hereditary disease where there is a high likelihood that the disease or condition will materialize if the gene is altered. Genetic tests may use germline variant information to detect for cardiomyopathy, hearing loss, inborn errors of metabolism and other hereditary conditions.”
FDA also said that its recognition anticipates that ClinGen may add new or modify genetic variant information on an ongoing basis, provided they are within the scope of recognition. FDA recognized the database using a process detailed in final guidance from April.
“The agency’s policies seek to encourage data sharing and outline an approach clarifying how test developers may rely on clinical evidence provided in FDA-recognized public databases to support clinical claims for their tests and help provide assurance that the test is ‘clinically valid,’ which, in the case of genetic tests, is the relationship between a gene variation and a specific disease,” the agency explained.
Genetic Database Recognition Decision Summary for ClinGen Expert Curated Human Variant Data