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Genetic Testing Registry Resource Launched

The National Institutes of Health (NIH) Director, Francis S. Collins, M.D., Ph.D., unveiled the Genetic Testing Registry (GTR) today at NIH’s observance of international Rare Disease Day. This free resource, developed by the National Center for Biotechnology Information (NCBI), features a versatile search interface that allows users to search by test, condition, gene, genetic mutation, and laboratory. It also serves as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific, and literature resources available through the National Library of Medicine. Video tutorials on how to use the GTR are available on YouTube. The GTR staff welcomes comments and questions as users become familiar with the Registry. To submit input, please use the online Feedback Form for the Genetic Testing Registry.

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at a fast pace. To keep up with the constantly changing field, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.

GTR is built upon data from the laboratory directory of GeneTests, another NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR. For more information about this new online tool, please refer to the NIH Press Release.

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