National Institutes of Health (NIH) Genetic Testing Registry. W. S. Rubinstein1, D. Maglott1, B. L. Kattman1, A. Malheiro1, J. Lee1, M. Ovetsky1, V. Hem1, G. Song1, V. Gorelenkov1, C. Fomous2, J. Ostell1 1) National Center for Biotechnology Information, National Institutes of Health, Bethesda, MD; 2) Office of the Director, National Institutes of Health, Bethesda, MD.

   The NIH Genetic Testing Registry (GTR,, an online tool designed to help clinicians navigate the landscape of genetic tests, was unveiled by NIH Director Dr. Francis Collins on Rare Disease Day (February 29, 2012). The GTR arose from the 2008 recommendation by the Secretarys Advisory Committee on Genetics, Health and Society (SACGHS) that called for a publicly available, Web-based registry to enhance the transparency of genetic testing and assist efforts in reviewing the clinical validity of laboratory tests. The GTR was developed by the National Center for Biotechnology Information (NCBI) under the oversight of the NIH Office of the Director and with extensive input from health care providers, researchers, testing labs, patients, and other stakeholders. The GTR contains information about biochemical, cytogenetic, and molecular tests for Mendelian disorders and drug responses. Submissions, which NCBI began accepting in the spring of 2012, are voluntary. The test content is a combination of fully registered tests submitted to GTR, information displayed from the GeneTests Laboratory Directory, and information supplemented by NCBI. GeneReviews and GeneClinics are accessible through the GTR and will remain available after the GeneTests Laboratory Directory is phased out in 2013. Fully registered GTR tests are identified by a unique GTR accession and version number and have a detailed description provided by the lab. Test providers are responsible for the content and quality of the data they submit. NIH requires submitters to agree to a code of conduct which includes providing information that is accurate and not misleading. GTR users are requested to report any breaches of the code of conduct. Test information is presented alongside well-vetted publications and resources (e.g., practice guidelines) assembled by NCBI, which enables the professional community to identify information gaps and to focus their efforts accordingly. The accessioning of well-described genetic tests facilitates formal evaluation by professionals and publication of these assessments. NCBI has encouraged the American Society of Human Genetics, American College of Medical Genetics and Genomics, Association for Molecular Pathology, and National Society of Genetic Counselors to publish evaluations of the tests in the GTR. Professional evaluations can be displayed in the GTR as with other important publications and would fulfill the charge articulated by SACGHS.

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