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New NIH Database Brings Clarity to Genetic Tests
29 February 2012 4:57 pm
Hoping to clear up confusion about the growing welter of genetic tests, the National Institutes of Health (NIH) today unveiled a new database that lists thousands of tests voluntarily submitted by companies and non-profit labs.
Genetic tests now exist for some 2500 diseases, from cystic fibrosis to APOE, which raises the risk of Alzheimer's disease. NIH created the Genetic Testing Registry for physicians, patients, and researchers after experts suggested that such a database could improve transparency about genetic tests. Run by NIH's National Center for Biotechnology Information (NCBI), the database can be searched by condition, test, gene, and lab and includes information such as whether the test sequences the entire gene for mutations or looks for specific errors. Links lead to resources like NCBI's GeneReviews, which are brief descriptions of specific inherited diseases and how to test for them.
Most genetic tests don't have to be approved by the Food and Drug Administration as long as they're performed as a lab service and not marketed as a medical device. NIH does not verify the information in the registry, but the submitter must attest that the data are accurate. "It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis Collins in a press release timed with NIH's celebration of Rare Disease Day.
The tests listed so far cover mostly Mendelian diseases and genes that affect how people metabolize medicines. Missing are exome and whole-genome sequencing tests, mutations found in tumors, and direct-to-consumer tests, like 23andMe's genome-wide scan for disease risk markers. Those may come later, NIH says.