The National Institutes of Health, an agency within the Department of Health and Human Services (HHS), 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.End Preamble Start Supplemental Information
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 policymakers. 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 submit information voluntarily 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 Start Printed Page 33318notice is part of the public consultation process referenced in that announcement and described on the NIH GTR Web site: http://www.ncbi.nlm.nih.gov/gtr/.
II. Data Elements
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, policymakers, 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) and 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.
III. Request for Comments
The NIH is seeking input and advice on the following items:
1. Are there any types of genetic tests that should not be included in the GTR?
2. What are the potential uses of the GTR for (1) researchers, (2) patients/consumers, (3) health care providers, (4) clinical laboratory professionals, (5) payers, (6) genetic testing entities/data submitters, (7) policymakers, and (8) electronic health records?
3. What data elements are critical to include for use by (1) researchers, (2) patients/consumers, (3) health care providers, (4) clinical laboratory professionals, (5) payers, (6) genetic testing entities/data submitters, (7) policymakers, and (8) electronic health records?
4. What are the potential benefits and risks associated with facilitating public access to information about the:
a. Availability and accessibility of genetic tests?
b. Scientific basis and validity of genetic tests?
c. Utility of genetic tests?
5. What is the best way to distinguish between data fields left blank because of an absence of data/evidence and those left blank for other reasons? How important is this distinction for enhancing transparency, including for the purpose of identifying research opportunities?
6. To describe adequately and accurately a genetic test, which of the following data elements should be included in the GTR? Are there other data elements that should be added? What information is necessary to represent adequately each data element?
a. Contact information (e.g., location, name of the laboratory director, and contact information for the laboratory performing the test)
b. Laboratory certifications (e.g., Federal or State certification of the laboratory that performs the test)
c. Name of the test (e.g., common test name, commercial name, marketing materials about the test and/or genetic testing entity, standard identifier (e.g., CPT codes, LOINC ii))
d. Regulatory clearances (e.g., for tests reviewed by the Food and Drug Administration, the 510(k) or premarket approval (PMA) number)
e. Intended use of the test (e.g., diagnosis, screening, drug response)
f. Recommended patient population
g. Limitations of the test (e.g., is the test validated only for certain subpopulations or limited to particular uses such as screening but not diagnostic testing?)
h. Test methodology
i. Analyte(s)—What is being measured in the test (e.g., genetic sequence)
j. Specimen requirements (e.g., blood, saliva, tissue samples, amniotic fluid)
k. Availability (e.g., is the submitter the sole provider of the test or are there multiple providers?)
l. Accessibility (e.g., accessible through a health provider, public health mandate, and/or direct-to-consumer)
m. Performance characteristicsi
i. Analytical sensitivity
ii. Analytical specificity
v. Reportable range of test results
vi. Reference range
vii. Method used for proficiency testing (e.g., formal PT program, alternative assessment) and score
n. Clinical validity i
i. Clinical sensitivity
ii. Clinical specificity
iii. Positive and negative predictive value
o. Utility (e.g., clinical and/or personal utility) or outcomes
iii. Added value, compared with current management without genetic testing
p. Cost (e.g., price of the test, health insurance coverage)
7. What types of information might be difficult for test providers to submit and why?
8. What are the advantages and disadvantages of collecting and providing information on the molecular basis of genetic tests, such as detailed information about what the test detects and the specific methods employed?
9. In addition to the data elements, would it be helpful to reference other resources, and if so, which ones (e.g., published studies, recommendations from expert panels such as the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Preventive Services Task Force, or Evaluation of Genomic Applications in Practice and Prevention Working Group)?
10. As the GTR is being designed, what are the important processes to consider to make the submission of data as easy as possible for the data provider (e.g., the capability of linking to information that has been submitted to other agencies, such as the Food and Drug Administration and the Centers for Medicare and Medicaid Services, or a master file of data common to particular tests)?
11. Which potential benefits and risks would be most likely to affect the Start Printed Page 33319decisions of researchers, test developers, and manufacturers on whether to submit data to the GTR, and what factors will best encourage submission of complete and accurate data?
12. What are the most effective methods to ensure continued stakeholder input into the maintenance of the GTR?
13. For what purpose(s) would you use the Registry to support your professional efforts?
14. Are there any other issues that NIH should consider in the development of the GTR?
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.Start Further Info
FOR FURTHER INFORMATION CONTACT:
Dr. Cathy Fomous, NIH Office of Biotechnology Activities, 6705 Rockledge Drive, Room 750, Bethesda, MD 20892; telephone 301-496-9838; fax 301-496-9839; e-mail CFomous@od.nih.gov.Start Signature
Dated: June 4, 2010.
Francis S. Collins,
Director, National Institutes of Health.
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.End Further Info End Supplemental Information
[FR Doc. 2010-14021 Filed 6-10-10; 8:45 am]
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