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FDA recognition of first human genetic variant database
Today, the U.S. Food and Drug Administration (FDA) is recognizing the Clinical Genome Resource (ClinGen) consortium’s ClinGen Expert Curated Human Genetic Data as the first FDA-recognized publicly-available genetic variants database. Genetic test developers, including those who offer next generation sequencing-based (NGS) tests, may access this data through ClinVar, an archive funded and maintained by the National Institutes of Health (NIH), and use it to support clinical claims for their diagnostic tests.
A doctor talking with a patient, with DNA superimposed over them, with the title, First FDA-recognized public genetic variant database.
ClinGen defines the clinical relevance of genes and differences in genes (variants) for use in precision medicine and research. FDA recognition of a database means the FDA believes the data and assertions contained in the database can be considered valid scientific evidence and can be used to support premarket review of genetic and genomic tests.

ClinGen

The goal of ClinGen is to bring together clinical and research experts to develop standard processes for reviewing data about gene variants and their connections to health and disease. ClinGen’s variant assertions and the processes that support them are recognized by the FDA for germline variants for hereditary disease where there is a high likelihood that the disease or condition will materialize given a deleterious variant (one that is strongly associated with a disease or condition). A germline variant is a gene change in a reproductive cell (egg or sperm) that becomes incorporated into the DNA of the offspring. A variant contained within the germline is hereditary because it can be passed from parent to offspring.

With the FDA’s recognition, genetic test developers can use this data to support the clinical validity of their tests, without the need for additional FDA review to confirm the suitability of the database. Use of a publicly accessible database may help reduce regulatory burdens on test developers and spur advancements in the evaluation and implementation of precision medicine.

Questions?

If you have any questions about FDA database recognition, please contact the Division of Industry and Consumer Education (DICE) in the Center for Devices and Radiological Health (CDRH) at 1-800-638-2014, 301-796-7100 or DICE@fda.hhs.gov.

U.S. Food and Drug Administration
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