FDA recognizes Memorial Sloan Kettering tumor variant database

Regulatory NewsRegulatory News | 07 October 2021 |  By 

The first somatic human variant database has been recognized by the US Food and Drug Administration for inclusion in its Public Human Genetic Variant Database listing. The move opens the door for developers of tumor profiling tests to use the database to support clinical validity claims in regulatory submissions.
A portion of Memorial Sloan Kettering Cancer Center’s Oncology Knowledge Base (OnkoKB) received the recognition under FDA’s database recognition program. In April 2018, the agency finalized a guidance document that sets a roadmap for how developers of genetic and genomic-base in vitro diagnostics (IVDs) can use public databases of human genetic variants in support of clinical validity claims.
Later that year, FDA then recognized the ClinGen Expert Curated Human Genetic Data source maintained by the National Institutes of Health as the first public genetic database that could be used to support IVD validation claims and marketing authorizations.
At that time, FDA explained that “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.” (RELATED: FDA formally recognizes first public genetic database, Regulatory Focus 04 December 2018)
These publicly accessible databases could “help reduce regulatory burdens on test developers and spur advancements in the evaluation and implementation of precision medicine,” according to FDA’s webpage about the genetic variant database recognition program.
In the case of OnkoKB, FDA recognized the database, which gives information about alterations in 682 cancer genes. A portion of the database is now deemed by the agency to be valid scientific evidence for level 2 biomarkers, or those with evidence of clinical significance, as outlined by the Center for Devices and Radiological Health in its approach to next-generation sequencing tests for tumor profiling. Another portion of the database was assigned to level 3, reserved for cancer mutations with potential clinical significance.
FDA reached its decision to recognize a portion of OnkoKB after reviewing how mutations are assigned clinical significance, how the database is maintained and variants are selected and evaluated, and the general governance and operations of the database. The OnkoKB website has an informational page about its partial FDA recognition that outlines the scope of recognition and provides relevant OncoKB and FDA links.
FDA announcement


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