[Federal Register Volume 75, Number 112 (Friday, June 11, 2010)]
[Notices]
[Pages 33317-33319]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2010-14021]


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DEPARTMENT OF HEALTH AND HUMAN SERVICES

National Institutes of Health


Request for Information (RFI) on the National Institutes of 
Health Plan To Develop the Genetic Testing Registry

ACTION: Notice.

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SUMMARY: 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.

SUPPLEMENTARY INFORMATION: 

I. Background

    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

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notice 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 characteristics\i\
    i. Analytical sensitivity
    ii. Analytical specificity
    iii. Accuracy
    iv. Precision
    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
    iv. Prevalence
    v. Penetrance
    vi. Modifiers
    o. Utility (e.g., clinical and/or personal utility) or outcomes
    i. Benefits
    ii. Harms
    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

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decisions 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?

DATES: To assure consideration, comments must be received by July 12, 
2010.

ADDRESSES: 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 [email protected] 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, Room 750, Bethesda, MD 
20892; telephone 301-496-9838; fax 301-496-9839; e-mail 
[email protected].

    Dated: June 4, 2010.
Francis S. Collins,
Director, National Institutes of Health.

Footnotes

    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.

[FR Doc. 2010-14021 Filed 6-10-10; 8:45 am]
BILLING CODE 4140-01-P