The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

Abstract

The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).

Figure 1.

Representative clinical test record displaying overview tab. Information is organized along seven tabs. (A) Breadcrumbs summarize the search path. (B) Discovery panel, located on test- and condition-specific pages, includes links of interest for the condition. (C) A unique GTR accession is assigned to each test record. The date the record was last updated and test version history are provided. (D) Tooltips, accessed by hovering over a ‘?’ icon, display the definition of specific fields and identify fields that are provided by submitters. In this example, hovering over the tooltip for the clinical utility field prompts the tooltip display.