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An experimental hepatitis B drug that looked safe in animal trials tragically killed five of 15 patients in 1993. Now,...
Using the two high-quality genomes that exist for Neandertals and Denisovans, researchers find clues to gene activity...
A new report from the Intergovernmental Panel on Climate Change (IPCC) concludes that humanity has done little to slow...
Astronomers have discovered an Earth-sized planet in the habitable zone of a red dwarf—a star cooler than the sun—500...
Three years ago, Jennifer Francis of Rutgers University proposed that a warming Arctic was altering the behavior of the...
Officials last week revealed that the U.S. contribution to ITER could cost $3.9 billion by 2034—roughly four times the...
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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.