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FDA Identifies Database to Evaluate Precision Diagnostics

DNA puzzle

(Arek Socha, Pixabay)

4 Dec. 2018. The Food and Drug Administration identified a public database of genomics and diseases as a resource to assess new diagnostics tests using genetic data for precision medicine. The agency says its recognition of the ClinGen Expert Curated Human Genetic Data resource provides standard benchmarks for evaluating diagnostics using genetic data to detect disease conditions based on variations in a person’s DNA.

In April, FDA announced a plan for discovering public genetic databases to find standard resources for the agency to review the validity of new diagnostics based on genetic variations. These same databases are also expected to relieve developers of genetics-based diagnostics the task of finding or assembling their own databases for FDA product reviews. The ClinGen database is the first of these public genetics resources to receive FDA recognition.

The ClinGen Expert Curated Human Genetic Data is a curated collection developed and made available to the public by the Clinical Genome Resource consortium designed to advance precision medicine, funded primarily by National Human Genome Research Institute, part of National Institutes of Health. The database collects and maintains information about genes, genetic variations, and their relationship to disease, which now includes data on more than 1,500 genes and 10,600 variations. Data are provided by researchers, clinicians, and patients.

Some 700 experts taking part in 33 consortium panels collect and evaluate evidence connecting genomic variants to specific disease conditions. The groups assess the strength of the evidence, and classify the variation on a range from benign to pathogenic, for conditions such as cardiovascular disorders, hearing loss, blood diseases, and inherited cancers. The expert teams determine if the genomic variation is associated with a disease, and if so, is also the cause of the disease. The panels also indicate if the linkages between genomics and disease are actionable, i.e. can be influenced by clinicians.

“The availability of genetic tests,” says FDA commissioner Scott Gottlieb in an agency statement, “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.”

Designating ClinGen’s database as a standard assessment resource is expected to relieve developers of precision-medicine diagnostics of preparing their own data sets for FDA evaluation. Previously, developers were asked to also demonstrate the reliability of these data collections, but can now cite results with ClinGen’s data.

“A major current challenge for precision medicine,” adds NIH director Francis Collins, “is the need to translate new discoveries and data from the Human Genome Project so that this information can be used by physicians and other health care providers to improve health. ClinGen provides a standard curated data reference of genetic variants to facilitate the development and implementation of genetic tests for use by health care professionals, which is critically important for moving science into practice.”

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