New Online Database from NIH: Genetic Testing Registry, Video Tutorials Available

Posted on March 4, 2012 by


From Science Magazine:

[NIH recently] 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.

Additional Details in the Official NIH Announcement

The GTR database was developed by the National Center for Biotechnology Information (NCBI), part of NIH’s National Library of Medicine, under the oversight of the NIH Office of the Director and with extensive input from researchers, testing labs, health care providers, patients and other stakeholders. To view video tutorials on how to use GTR, go to http://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B.

Direct to New Genetic Testing Registry Database

Tagged: