Office of Biotechnology Activities    National Institutes of Health - Office of Science Policy   Frequently Asked Questions Purpose and Scope     1. What is the purpose of the Genetic Testing Registry?     2. What is the goal of the Genetic Testing Registry?     3. What is the scope of the Genetic Testing Registry?     4. What is the intended audience for the Genetic Testing Registry?     5. Why did the National Institutes of Health develop the Genetic Testing Registry?     6. What are the benefits of the Genetic Testing Registry?     7. Will the Genetic Testing Registry include results from genetic testing?   Stakeholder Involvement     8. How was the Genetic Testing Registry designed?     9. Does the National Institutes of Health collaborate with other agencies in the Department of Health and Human Services that are interested in genetic test information?     10. Did the National Institutes of Health involve stakeholders during the development of the Genetic Testing Registry?     11. How did stakeholder input help the National Institutes of Health shape the Genetic Testing Registry?     12. How can I learn more about the Genetic Testing Registry and provide feedback?   Quality Assurance     13. How will NIH assure the quality of the test information provided to the Genetic Testing Registry?     14. What action will the National Institutes of Health (NIH) take if marketing materials state that NIH endorses a test?     15. What action will the National Institutes of Health (NIH) take if it discovers that submitted test information is inaccurate or misleading?     16. What action will the National Institutes of Health (NIH) take if test submitters do not review submitted information at least once a year?   Submitting Genetic Test Information     17. Who can contribute test information to the Genetic Testing Registry?     18. How will submissions to the Genetic Testing Registry be referenced, and will they be linked to other National Institutes of Health resources?     19. Is participation in the Genetic Testing Registry mandatory?     20. What type of information can be submitted to the Genetic Testing Registry?     21. How will testing information be submitted?     22. How difficult will it be to submit data?     23. What is the cost to participate in the Genetic Testing Registry?     24. How should test submitters refer to their participation in the Genetic Testing Registry?   GeneTests     25. Does the Genetic Testing Registry replace GeneReviews?     26. Does the Genetic Testing Registry replace the GeneTests laboratory directory?     27. Would it make more sense from an economic standpoint to expand GeneTests to accommodate a wider range of genetic tests and data elements than to develop an entirely new database?   Paperwork Reduction Act     28. What is the Paperwork Reduction Act?     29. Does the Paperwork Reduction Act apply to the Genetic Testing Registry?     Purpose and Scope     1. What is the purpose of the Genetic Testing Registry?     The Genetic Testing Registry (GTR) is an online tool that will enable health care providers, researchers, and others to navigate the rapidly changing landscape of genetic tests. Currently, there are genetic tests for about 2,500 diseases�a number that has been growing steadily and continues to rise. However, until the GTR, limited information about these tests was scattered across multiple databases. The GTR is a centralized, publicly available database that aims to provide comprehensive information about genetic tests.   Top of Page   2. What is the goal of the Genetic Testing Registry?     The overarching goal of the Genetic Testing Registry (GTR) is to advance public health and research into the genetic basis of health and disease. As such, the GTR has the following key functions:       Encourage providers of genetic tests to enhance transparency by publicly sharing information about the scientific basis and utility of their tests;     Provide a public resource to locate laboratories that offer particular tests; and     Facilitate genetic and genomic data-sharing for research and new scientific discoveries.   Top of Page   3. What is the scope of the Genetic Testing Registry?     The Genetic Testing Registry will be developed in phases, and Phase I focuses on tests for heritable mutations, including pharmacogenomic tests and tests using complex arrays and multiplex panels. Future phases will incorporate other types of tests such as tests for somatic mutations and assays that use whole exome or whole genome sequencing.   Top of Page   4. What is the intended audience for the Genetic Testing Registry?     The initial phase of the Genetic Testing Registry is intended primarily for health care providers and researchers; future phases will incorporate features designed for a user base that includes patients and the general public.   Top of Page   5. Why did the National Institutes of Health develop the Genetic Testing Registry?     The National Institutes of Health (NIH) is the primary Federal agency for conducting and supporting basic, clinical, and translational medical research. Within NIH, the National Library of Medicine (NLM) and the National Center for Biotechnology Information (NCBI) support efforts to advance medicine and public health by sharing information and developing automated systems for storing and analyzing knowledge about molecular biology, biochemistry, and genetics. Currently, NLM and NCBI maintain a large number of public databases and resources that are heavily used by researchers, clinicians, consumers, and patients. The Genetic Testing Registry (GTR) is integrated with relevant NIH resources to enhance the Registry's utility. Thus, NIH is a natural home for the GTR because of its role in advancing public health through science and its strong expertise in developing databases.   Top of Page   6. What are the benefits of the Genetic Testing Registry?     The National Institutes of Health expects that the Genetic Testing Registry will benefit a large stakeholder community including health care providers, researchers, and test providers. Anticipated benefits include:   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.     Top of Page   7. Will the Genetic Testing Registry include results from genetic testing?     No. The Genetic Testing Registry will not contain data from individuals' genetic test results.   Top of Page Stakeholder Involvement     8. How was the Genetic Testing Registry designed?     The Genetic Testing Registry was designed by the National Center for Biotechnology Information with extensive input from the stakeholder community, including clinicians and test providers, and oversight by a National Institutes of Health steering committee.   Top of Page   9. Does the National Institutes of Health collaborate with other agencies in the Department of Health and Human Services that are interested in genetic test information?     Yes. NIH is working with the Food and Drug Administration and the Centers for Medicare & Medicaid Services (which enforces regulations based on the Clinical Laboratory Improvement Amendments) to streamline the process of data submission for test providers who may be required to provide similar information to these HHS agencies.   Top of Page   10. Did the National Institutes of Health involve stakeholders during the development of the Genetic Testing Registry?     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.     Top of Page   11. How did stakeholder input help the National Institutes of Health shape the Genetic Testing Registry?     The National Institutes of Health (NIH) is appreciative of the thoughtful stakeholder feedback, which helped to define the scope of the Genetic Testing Registry (GTR), improve site navigation, enhance usability, and identify data elements important to potential GTR users as well as elements that would be difficult or burdensome for test developers to provide. Examples of changes based on stakeholder input are:     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. Subsequent phases will add tests for somatic mutations such as genetic variants in tumors, direct-to-consumer genetic tests, tests using whole-exome or whole-genome sequencing, and tests for infectious agents.     NIH focused on health care providers as the intended audience for the initial phase of the GTR; future phases will 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.   Top of Page   12. How can I learn more about the Genetic Testing Registry and provide feedback?     The National Center for Biotechnology Information (NCBI) provides tutorials and information on how to use the Genetic Testing Registry (GTR). The Office of the Biotechnology Activities 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.   Top of Page Quality Assurance     13. How will NIH assure the quality of the test information provided to the Genetic Testing Registry?     NIH will not be verifying the content of information submitted to the Genetic Testing Registry (GTR) by test providers. Submitters will be solely responsible for the content and quality of the data they provide to the GTR. However, NIH recognizes that it is critically important to prevent GTR users from thinking that NIH, or the government in general, endorses tests or has verified the accuracy of test information in the GTR. NIH implemented the following measures to ensure that these limitations are as clear as possible and also to hold submitters accountable for their responsibilities:   The National Center for Biotechnology Information (NCBI) will incorporate basic 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 if submitters violate these terms.     A prominent note on the GTR homepage clearly states that NIH does not independently verify information submitted to the GTR.     NCBI will assign a unique accession number to each test, allowing uniform reference to tests in scientific publications; this feature will facilitate third-party evaluations of GTR content, and NCBI will link published reviews to tests referenced in publications.     NCBI will link to external resources such as professional practice guidelines and studies that support or refute claims made by submitters.     GTR users can contact NCBI staff if they wish to report information that appears to be incorrect.     Top of Page   14. What action will the National Institutes of Health (NIH) take if marketing materials state that NIH endorses a test?     Test submitters agree to abide by a code of conduct, which stipulates that submitters make no explicit or implicit claims that their tests listed in the GTR, or other information submitted to the GTR, have been approved or endorsed by NIH, the Department of Health and Human Services, or the U.S. Government. If this stipulation is not honored by a test submitter, NIH reserves the right to take action, including, in its sole discretion, requesting that the test submitter amend its marketing materials to delete any such claims or, if a submitter fails to respond to this request, removing the relevant submission from the GTR. Marketing materials may refer to the fact that test information is provided in the GTR.   Top of Page   15. What action will the National Institutes of Health (NIH) take if it discovers that submitted test information is inaccurate or misleading?     Test submitters agree to abide by a code of conduct, which stipulates that they will uphold the integrity of the GTR through the submission of information that is accurate and not misleading. If this stipulation is not honored by a test submitter, NIH reserves the right to take action, including, in its sole discretion, requesting that the test submitter amend inaccurate or misleading information or, if a submitter fails to respond to this request, removing the relevant submission from the GTR.   Top of Page   16. What action will the National Institutes of Health (NIH) take if test submitters do not review submitted information at least once a year?     Test submitters agree to abide by a code of conduct, which stipulates that they will review and, if necessary, update the submitted information at least once a year. The NIH National Center for Biotechnology Information will send test submitters an annual reminder of this obligation. If this stipulation is not honored by a test submitter, NIH reserves the right to take action, including, removing the relevant submission from the GTR.   Top of Page Submitting Genetic Test Information     17. Who can contribute test information to the Genetic Testing Registry?     Test providers that perform all or some portions of the genetic test can submit information to the Genetic Testing Registry. Providers of genetic tests include U.S. and non-U.S. clinical and research laboratories.   Top of Page   18. How will submissions to the Genetic Testing Registry be referenced, and will they be linked to other National Institutes of Health resources?     Each test in the Genetic Testing Registry (GTR) will be assigned a unique accession number, allowing for uniform reference to tests across various entities, including scientific publications and electronic health records. In addition, the GTR will be integrated with other National Institutes of Health databases and resources.   Top of Page   19. Is participation in the Genetic Testing Registry mandatory?     No. Participation in the Genetic Testing Registry is not mandatory. Providers of genetic tests are encouraged to submit test information voluntarily.   Top of Page   20. What type of information can be submitted to the Genetic Testing Registry?     The Genetic Testing Registry (GTR) is designed to provide a wide range of information about genetic tests such as the purpose of the test and its limitations; the name, location, and credentials of laboratories providing the test; whether it is a clinical or research test; the testing method and what the test measures; analytical validity data, and evidence of clinical validity and clinical utility. The GTR will not include individual test results or other confidential or proprietary information.   Top of Page   21. How will testing information be submitted?     Information will be collected and managed using an online submission system. Alternatives will be made available to test providers that are not able to access online systems. Further submission information is provided in a tutorial about the GTR submission process.   Top of Page   22. How difficult will it be to submit data?     The National Center for Biotechnology Information (NCBI) aims to establish a highly efficient submission system. NCBI engaged with test providers in developing the submission system and incorporated a number of time-saving features. NCBI will continue to work with test providers to ease data submission processes.   Top of Page   23. What is the cost to participate in the Genetic Testing Registry?     There will be no cost to submit information to the Genetic Testing Registry (GTR). Test providers can submit information about a single test or multiple tests, at no charge. Nor will there be a charge to access information in the GTR.   Top of Page   24. How should test submitters refer to their participation in the Genetic Testing Registry?     Test submitters may refer to the fact that information about their tests is available in the Genetic Testing Registry (GTR) and provide the relevant URL(s). Before providing test information to the GTR, submitters must agree to abide by a code of conduct, which stipulates that submitters make no explicit or implicit claims that their tests listed in the GTR, or other information submitted to the GTR, have been approved or endorsed by the National Institutes of Health (NIH), the Department of Health and Human Services, or the U.S. Government. If this stipulation is not honored, NIH reserves the right to take action, including, in its sole discretion, removing the submitter's tests from the GTR.   Top of Page GeneTests     25. Does the Genetic Testing Registry replace GeneReviews?     No. The Genetic Testing Registry does not replace the GeneReviews component of GeneTests. GeneReviews, which are peer-reviewed, clinical descriptions of genetic conditions, remains available from GeneTests.   Top of Page   26. Does the Genetic Testing Registry replace the GeneTests laboratory directory?     The Genetic Testing Registry (GTR) will replace the laboratory directory component of GeneTests by early 2013, over the course of about a year. The GTR accommodates a broader range of genetic tests and more detailed information about each test than the GeneTests laboratory directory.   Top of Page   27. Would it make more sense from an economic standpoint to expand GeneTests to accommodate a wider range of genetic tests and data elements than to develop an entirely new database?     GeneTests was not designed or built to support the range of test technologies that the Genetic Testing Registry plans to cover or to contain a detailed amount of data for each test. It makes more sense both technically and financially to develop a new database than to re-engineer GeneTests.   Top of Page Paperwork Reduction Act     28. What is the 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 here.   Top of Page   29. Does the Paperwork Reduction Act apply to the Genetic Testing Registry?     Yes, the Paperwork Reduction Act applies to the 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. Public comments about the GTR that were received during these periods are available at July 27, 2011, Request for Comments and November 23 2011, Request for Comments. NIH completed the PRA process in February 2012.   Top of Page

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