Hoping to dispel confusion about the increasing confusion of genetic testing, the National Institutes of Health (NIH ) today unveiled a new database that lists thousands of tests voluntarily submitted by companies and non-profit laboratories.
Genetic tests now exist for some 2,500 diseases, cystic fibrosis APOE, which increases the risk of Alzheimer's disease. NIH established the Genetic Testing Registry for physicians, patients and researchers after experts suggested that such a database could improve transparency on genetic testing. Led by National Center for Biotechnology Information (NIH NCBI) database can be searched by condition test, gene, and the laboratory and includes information such as whether the test sequence the entire gene for mutations and look for errors specific. Links lead to resources like GeneReviews NCBI, which are brief descriptions of specific hereditary diseases and how to test for them.
Most genetic tests should not be approved by the Food and Drug Administration as long as they are performed as a laboratory service and not marketed as a medical device. NIH does not verify the information in the registry, but the applicant must certify that the data is accurate. "It is a great resource for those who are struggling to make sense of the complex world of genetic testing," said the director Francis Collins NIH in a press release timed with the celebration of the NIH Rare Disease Day .
The tests listed so many cover essentially Mendelian diseases and genes that affect the way people metabolize drugs. Exome are missing and whole genome sequencing tests, mutations found in the tumors, and direct consumer testing, such as analysis of the entire genome of 23andMe for disease risk markers. These could come later, said NIH.
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