Genetic Testing Registry FAQs
Purpose and Scope
- Encourage providers of genetic tests to enhance transparency by publicly sharing information about the scientific basis and utility of their tests;
- Provide an information resource for the public, particularly health care providers, to locate laboratories that offer particular tests; and
- Facilitate genetic and genomic data-sharing for research and new scientific discoveries.
- Expanding publicly available information for clinicians, researchers, and others about test availability; indications for testing; and data about the accuracy, validity, and usefulness of a test.
- Identifying gaps in scientific knowledge.
- Enabling test providers to identify and connect with other providers to create collaborations, such as participating in quality assurance exchanges.
- Understanding trends in genetic testing over time, such as the uptake of next-generation sequencing by clinical testing labs.
Submitting Genetic Test Information
Information is collected and managed using an online submission system. Further information is provided in a tutorial about the GTR submission process.
- The National Center for Biotechnology Information (NCBI) incorporates basic administrative checks for mistakes made by the submitter during the submission process.
- Submitters must agree to abide by the terms of a code of conduct and action will be taken, based on standard operating procedures, if submitters violate these terms.
- A prominent disclaimer on the GTR homepage clearly states that NIH does not independently verify information submitted to the GTR.
- NCBI assigns a unique accession number to each test, allowing uniform reference to tests in scientific publications; which facilitates third-party evaluations of GTR content. In addition, NCBI can link published reviews to tests referenced in publications.
- NCBI links to external resources such as professional practice guidelines and studies that support or refute claims made by submitters.
- GTR users can contact NCBI staff to report information that appears to be incorrect.
Yes, consulting with stakeholders—such as laboratory test developers, manufacturers, and health care providers—was a key step in the development of the Genetic Testing Registry (GTR), and continued stakeholder interaction will help optimize the GTR's utility.
Stakeholder comments were solicited through the following means:
- Request for Information (RFI), Federal Register notice, June 11, 2010, 68 public comments.
- Public Stakeholder Meeting, November 2, 2010, 17 public comments and meeting discussion.
- Request for Comments, Federal Register notice, July 27, 2011, 12 public comments.
- Request for Comments, Federal Register notice, November 23, 2011, public comments.
- Consultation with two GTR clinical advisory groups: four meetings with clinical experts from within NIH and six meetings of a medical genetics working group of the National Center for Biotechnology Information Board of Scientific Counselors in 2010-2011.
- Meetings with other government agencies that have an interest in genetic testing (e.g., the Food and Drug Administration and the Centers for Medicare & Medicaid Services), three meetings in 2010-2011.
- In-person meetings or teleconferences with stakeholder groups, 19 meetings in 2010-2011.
- Presentations and discussion at meetings of professional organizations, 7 meetings in 2010-2011.
- Comments submitted through "Contact GTR," 95 comments received in 2010-2011.
- NIH decided to use a phased approach in building the GTR, and stakeholder comments helped prioritize the types of tests that are included in the initial phase. Phase I includes single-gene tests for heritable mutations, including pharmacogenomic tests, and multiplex panels and arrays. Phase II includes tests for somatic mutations such as genetic variants in tumors and tests using whole-exome or whole-genome sequencing. Subsequent phases will add tests for infectious agents and direct-to-consumer genetic tests.
- NIH focused on health care providers as the intended audience for the initial phase of the GTR; future phases may expand the audience to include patients and the general public.
- NIH excluded certain data elements, at least from the initial phase of GTR, such as test price, turn-around time, and patent and licensing information.
The National Center for Biotechnology Information (NCBI) provides tutorials and information on how to use the Genetic Testing Registry (GTR). The Office of the Science Policy provides a collection of public comments, frequently asked questions, and other background information. Please use "Contact GTR" to provide comments or ask questions about the GTR.
Paperwork Reduction Act
The Paperwork Reduction Act (PRA) was passed by Congress in 1980 and requires that federal agencies receive Office of Management and Budget (OMB) clearance before requesting most types of information from the public ("information collections"). Specifically, PRA clearance is required when standardized information is collected from 10 or more respondents within a 12-month period. The OMB regulation that implements the PRA is at 5 CFR 1320. Additional PRA information is available from the Department of Health and Human Services. .
Yes. The Paperwork Reduction Act applies to the Genetic Testing Registry (GTR) because the National Institutes of Health, a federal agency, is collecting standardized information from 10 or more respondents (i.e., laboratories that provide genetic tests) within a 12-month period. The Paperwork Reduction Act requires two periods for the public to provide comments about the proposed information collection. You can read the public comments that were requested on July 27, 2011, and November 23, 2011.