On December 4, 2018, the FDA formally recognized a public database that contains information about genes, genetic variants and their relationship to disease known as ClinGen Expert Curated Human Genetic Data. The FDA’s action is intended enhance the efficient development of novel diagnostic technologies that scan a person’s DNA to diagnose genetic diseases and guide medical treatments. The NIH-funded Clinical Genome Resource (ClinGen) consortium’s ClinGen Expert Curated Human Genetic Data is now accepted by the FDA as a source of valid scientific evidence that can be used to support clinical validity in premarket submissions.
ClinGen brings together more than 700 clinical and research experts to develop standard processes for reviewing data and genetic variants and their connections to health and disease. The experts who are part of the consortium determine how each variant is associated with a specific hereditary disease or condition and make that information available for unrestricted use in the community.
The FDA’s recognition 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. The new recognition means developers will not need to demonstrate to the FDA the reliability of the database, the data and information within which can be used to support the relationship between a gene variation and a specific disease that are within the scope of the recognition. The FDA’s recognition anticipates that ClinGen may add new or modify existing genetic variant information on an ongoing basis, provided they are within the scope of recognition.
Genetic tests work by looking at a person’s DNA to detect genomic variations that may determine whether a person has or is at risk of developing a genetic disease and, in certain cases, may help to inform treatment decisions. Unlike traditional diagnostics that typically detect chemical changes associated with a single disease or condition, DNA-based assays can look at hundreds to millions of DNA changes in a single test to help determine the cause of a person’s disease or condition.
In announcing the FDA’s recognition of the ClinGen Expert Curated Human Genetic Data, FDA Commissioner Scott Gottlieb, M.D. stated, in part: “Technological and clinical advances in genetic tests mean that patients and providers have a better understanding of the causes of disease and potential treatment options. The availability of genetic tests is opening up new opportunities to segment illnesses into more treatable subsets and enabling the development of targeted therapeutics aimed at these previously unknown categories of disease. These new medicines increasingly show outsized benefits in small populations of patients with rare, hard-to-treat and sometimes fatal conditions. The ability to use diagnostics to identify these rare subsets is a key element in driving this transformation in medical care and drug development.”
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