Notice Number: NOT-OD-10-101
Release Date: May 28, 2010
Response Date: To assure consideration, comments must be received by July 12, 2010.
Office of Science Policy
National Institutes of Health (NIH), (http://www.nih.gov)
The National Institutes of Health, an agency within the Department of Health and Human Services (DHHS), is seeking input and feedback on its plan to develop the Genetic Testing Registry (GTR); a centralized public resource that will provide information about the availability, scientific basis, and usefulness of genetic tests. Submission of test information to the GTR will be voluntary, and the NIH expects to receive wide interest and participation from researchers, test developers, and manufacturers.
The last decade has seen tremendous advances in our knowledge of the genomic and genetic factors involved in health and disease. This increased knowledge has been accompanied by a rapid rise in the availability of genetic tests. Although more than 2,000 genetic tests are available, there is no single public resource that provides information about the validity and usefulness of these tests. The NIH believes that transparent access to such information is vital to facilitate research and to enable informed decision making by patients, caregivers, health care providers, clinical laboratory professionals, payers, and policy makers. Therefore, the NIH is initiating the development of the GTR, an online resource that will provide a centralized location for researchers, test developers, and manufacturers to voluntarily submit information about genetic tests such as their intended use, validity, and utility. The Registry will serve as a resource for health care providers and patients interested in learning about the tests and easily locating laboratories offering particular genetic tests. By using standard identifiers for genetic tests, GTR can facilitate Health Information Technology (HIT) exchange. The GTR will be a repository of information about genetic tests, not a repository of test results.
On March 18, 2010, the NIH announced that it would be creating the GTR (see http://www.nih.gov/news/health/mar2010/od-18.htm). This RFI notice is part of the public consultation process referenced in that announcement and described on the NIH GTR website: http://www.ncbi.nlm.nih.gov/gtr/.
The NIH anticipates that the GTR will contain information on a wide range of genetic tests for inherited and somatic genetic variations, including tests ordered through health care providers and those available directly to consumers. The NIH is interested in comments on the types of tests to include within the GTR, as well as on appropriate data elements to collect about each test. The NIH’s working definition of a genetic test, for purposes of the Registry, is a test that involves an analysis of human chromosomes, deoxyribonucleic acid, ribonucleic acid, genes and/or gene products (e.g., enzymes, other types of proteins, and selected metabolites), which is predominantly used to detect heritable or somatic mutations, genotypes, or chromosomal variations in structure or number related to disease, health, and/or personalized medicine.
The NIH expects that the GTR will be most useful to health care providers, patients and consumers, clinical laboratory professionals, policy makers, and researchers if it includes information on the validity and utility of genetic tests. This expectation is consistent with recommendations of the HHS Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS).i Validity includes both analytical validity (a test’s ability to measure the analyte or genotype of interest accurately and reliably) as well as clinical validity (the relationship between a test result and health outcome or phenotype). Utility is the net balance of risks and benefits associated with using a test i and includes both clinical utility and personal utility.
To assist researchers, consumers, and providers in fully understanding a test, it will be important to include information about its molecular basis, including, for example, information about what the test detects and what methods the test employs. Supporting evidence for a test’s clinical validity and/or utility may include published data, systematic reviews, and practice guidelines.
The NIH is particularly interested in receiving comments on the type of data elements that should be included in the GTR and the level of information that would adequately address these data elements.
Request for Comments
The NIH is seeking input and advice on the following items:
Date: To assure consideration, comments must be received by July 12, 2010.
Individuals, groups, and organizations interested in commenting on the NIH plan to develop the GTR, as outlined in this RFI, may submit comments by e-mail to GTR@od.nih.gov or by mail to the following address: NIH GTR RFI Comments, National Institutes of Health, Office of Science Policy, 6705 Rockledge Drive, Room 750, Bethesda, MD 20892. Comments will be made publicly available, including any personally identifiable or confidential business information that they contain. Trade secrets should not be submitted.
For further information contact
Dr. Cathy Fomous, NIH Office of Biotechnology Activities, 6705 Rockledge Drive, Suite 750, Bethesda, MD 20892, phone: 301- 496-9838, fax: 301-496-9839, email: CFomous@od.nih.gov.
i From the HHS Secretary’s Advisory Committee on Genetics, Health and Society 2008 Report, U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Services. Available at http://oba.od.nih.gov/oba/SACGHS/reports/SACGHS_oversight_report.pdf
ii. Logical Observation Identifiers Names Codes (LOINC), a standard for unambiguous identification of tests and other measurements in health information exchange. Available at http://loinc.org. LOINC is a required standard in the certification criteria for electronic health records issued by the National Coordinator for Health Information Technology, HHS., (http://edocket.access.gpo.gov/2010/E9-31216.htm) to facilitate health information exchange.
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