Current Legislative and Regulatory Framework in the United States1

FEDERAL LEGISLATION RELEVANT TO DIRECT-TO-CONSUMER GENETIC TESTING

The following federal laws—the 1976 Medical Device Amendments to the Food, Drug, and Cosmetic Act, the Clinical Laboratory Improvement Amendments, the Health Insurance Portability and Accountability Act, and the Genetic Information Nondiscrimination Act—are most relevant to the oversight of DTC genetic testing. At the present time, however, only the latter explicitly applies to such tests.


Food, Drug, and Cosmetic Act (FDCA) and Medical Device Amendments (MDA). Enacted in 1938, FDCA brought the sale of foods, drugs, and cosmetics under the purview of the Food and Drug Administration (FDA). The Act prohibited false therapeutic claims and required manufacturers to demonstrate the safety of their products under stipulated conditions of use before they could be marketed.2 FDCA placed the regulation of medical devices within the purview of the FDA. It was only with the 1976 Medical Device Amendments to FDCA, however,

1

The section “Current Legislative and Regulatory Framework in the United States” is based on the remarks of Andrea Ferreira-Gonzalez, Professor of Pathology, Virginia Commonwealth University and Director, The Molecular Diagnostics Laboratory, Virginia Commonwealth University Health System; and Courtney Harper, Acting Director of the Division of Chemistry and Toxicology Devices, Office of In Vitro Diagnostic Device Evaluation and Safety, Center for Devices and Radiological Health, U.S. Food and Drug Administration.

2

Department of Health and Human Services (HHS), FDA’s Origins & Functions, Available at: http://www.fda.gov/AboutFDA/WhatWeDo/History/Origin/default.htm, Accessed: July 16, 2010.



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Current Legislative and Regulatory Framework in the United States1 FEDERAL LEGISLATION RELEVANT TO DIRECT-TO-CONSUMER GENETIC TESTING The following federal laws—the 1976 Medical Device Amendments to the Food, Drug, and Cosmetic Act, the Clinical Laboratory Improve- ment Amendments, the Health Insurance Portability and Accountability Act, and the Genetic Information Nondiscrimination Act—are most relevant to the oversight of DTC genetic testing. At the present time, however, only the latter explicitly applies to such tests. Food, Drug, and Cosmetic Act (FDCA) and Medical Device Amend- ments (MDA). Enacted in 1938, FDCA brought the sale of foods, drugs, and cosmetics under the purview of the Food and Drug Adminis- tration (FDA). The Act prohibited false therapeutic claims and required manufacturers to demonstrate the safety of their products under stipu - lated conditions of use before they could be marketed.2 FDCA placed the regulation of medical devices within the purview of the FDA. It was only with the 1976 Medical Device Amendments to FDCA, however, 1 The section “Current Legislative and Regulatory Framework in the United States” is based on the remarks of Andrea Ferreira-Gonzalez, Professor of Pathology, Virginia Commonwealth Uni- versity and Director, The Molecular Diagnostics Laboratory, Virginia Commonwealth University Health System; and Courtney Harper, Acting Director of the Division of Chemistry and Toxicol- ogy Devices, Office of In Vitro Diagnostic Device Evaluation and Safety, Center for Devices and Radiological Health, U.S. Food and Drug Administration. 2 Department of Health and Human Services (HHS), FDA’s Origins & Functions, Available at: http://www.fda.gov/AboutFDA/WhatWeDo/History/Origin/default.htm, Accessed: July 16, 2010. 

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 DIRECT-TO-CONSUMER GENETIC TESTING that the term “medical device” was explicitly defined. Under this defini- tion, diagnostic tests are classified as medical devices. Clinical Laboratory Improvement Amendments (CLIA). Enacted in 1988, CLIA establishes quality standards for all non-research laboratory testing performed on human specimens for the purpose of providing information for diagnosing, preventing or treating disease or for assess - ing health.3 Laboratories performing these tests must be certified by the Centers for Medicare and Medicaid Services. Although CLIA is a federal law, two states—New York and Washington—are exempt from CLIA because their state-level regulations have been determined to meet or exceed CLIA’s requirements. Health Insurance Portability and Accountability Act (HIPAA). Enacted in 1996 to protect health insurance coverage for workers—and their families—who change or lose their jobs, a major provision of HIPAA was to require the Department of Health and Human Services to write regulations aimed at protecting the privacy of individuals’ identifiable personal health information should Congress fail to enact legislation offering such protection before August 31, 1999.4 Genetic Information Nondiscrimination Act (GINA). Enacted in 2008 and in force since 2009, GINA5 protects the public from discrimina- tion based on genetic information in health insurance and employment settings. It prohibits employers from requesting, requiring, purchasing or using genetic information about an individual or family member in any job-related decision. This codifies the Equal Employment Oppor- tunity Commission’s interpretation of the Americans with Disabilities Act—never tested in court—by prohibiting workplace discrimination based on genetic information. It also prohibits health insurers (both group and individual) from requesting, requiring or using a person’s 3 The Centers for Medicare and Medicaid Services, CLIA Overview. Available at: www.cms.hhs. gov//clia/, Accessed: March 29, 2010. 4 U.S. Department of Health and Human Services, Health Information Privacy: The Health Insurance Portability and Accountability Act of 1996 (HIPAA), Available at: www.hhs.gov/ocr/ privacy/, Accessed: March 29, 2010. 5 Department of Health and Human Services (HHS), “GINA,” The Genetic Information Non - discrimination Act of 2008: Information for Researchers and Health Care Professionals, April 6, 2009. Available at: www.genome.gov/Pages/PolicyEthics/GeneticDiscrimination/GINAInfoDoc. pdf, Accessed: March 29, 2010.

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 CURRENT LEGISLATIVE AND REGULATORY FRAMEWORK genetic information for underwriting purposes. In contrast, it does not prohibit insurers’ use of such information in underwriting life, disability or long-term care insurance. Although some DTC genetic testing companies maintain that their laboratories are CLIA-certified and that they abide by HIPAA’s privacy pro- visions, it is not clear that the companies are legally subject to CLIA. Futher- more, they do not fall within the definition of “covered entities” subject to HIPAA. And, though many clients of DTC genetic testing companies may not even be aware of these laws, those who are familiar with them would likely assume that their protections apply to DTC genetic testing. REGULATING DIRECT-TO-CONSUMER GENETIC TESTING AT THE FEDERAL LEVEL The FDA is the federal agency charged with regulating genetic tests—whether they are offered direct-to-consumer or provided in a clinical setting. Although the FDA has primary oversight of genetic testing, other agen- cies occasionally become involved. The Federal Trade Commission (FTC) has jurisdiction over claims made in the advertising and promotion of any commercial product, genetic tests included. In 2006, the Senate Special Committee on Aging asked the Government Accountability Office (GAO) to investigate and report on so-called “nutrigenetic” testing web sites. Under- cover agents from the GAO’s Forensic Audits and Special Investigations unit found not only that the four companies examined made medically unproven and meaningless health-related predictions, but also that they apparently had not even analyzed the DNA samples that the investigators had submitted for testing.6 The 2008 SACGHS report7 identified more than two dozen gaps in oversight within and among the various components of the current 6 U.S. Government Accountability Office, Testimony Before the Special Committee on Aging, U.S. Senate, Nutrigenetic Testing: Tests Purchased from Four Web Sites Mislead Consumers, Statement of Gregory Kutz, Managing Director Forensic Audits and Special Investigations, Report available at: http://www.gao.gov/new.items/d06977t.pdf, Accessed: March 29, 2010. 7 U.S. System of Oersight of Genetic Testing: A Response to the Charge of the Secretary of Health and Human Serices, Report of the Secretary’s Advisory Committee on Genetics, Health, and Society, April 2008.

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 DIRECT-TO-CONSUMER GENETIC TESTING system. Two gaps of particular concern relate to proficiency testing (PT) and laboratory-developed tests (LDTs). Proficiency testing. Laboratories seeking to earn or renew CLIA certi - fication are judged on how well they perform specific analytical tests. Current regulations require formal proficiency testing for only 82 analytes, none of which is relevant in genetic testing. CLIA permits alternative assessments in such cases, but these are not always feasible or acceptable—particularly in as new and rapidly evolving a field as genetic testing—and to date the benefit of alternative assessments has not been systematically demonstrated. However, all clinical tests require some form of assessment whether they are specifically identi - fied in CLIA or not.8 Laboratory-deeloped tests (LDTs). Under MDA and successor amendments, medical devices are grouped into three classes (Class I, Class II, and Class III) with increasing regulatory requirements aimed at assuring that the vari- ous types of devices are safe and effective before they are marketed9—Class I devices are classified as low risk, Class II devices as moderate risk, and Class III devices as high risk. The FDA generally considers laboratory- developed tests to be Class II devices. Devices in this class require FDA clearance largely on the basis of demonstrating “substantial equivalence” to a legally marketed “predicate device.” The FDA may require clinical data from the manufacturer to establish both analytical and clinical performance. In addition, the FDA may impose special controls on the device when it goes to market. These include special labeling requirements, mandatory performance standards, and post market surveillance. Under a technicality known as “enforcement discretion,” the FDA has chosen not to require such testing and approval for an LDT developed in a CLIA-certified laboratory and used only by that particular laboratory. Many novel genetic tests, including DTC tests, fall into this category. 10 Although some DTC genetic testing companies describe their labora- tories as meeting all of CLIA’s standards, they currently are not required 8 [42 CFR 493.1253] Standard: Establishment and verification of performance specifications. 9 Department of Health and Human Services, Medical Devices, Available at: http://www.fda. gov/MedicalDevices/default.htm, Accessed: September 10, 2010. 10 There is significant disagreement, however, about what constitutes the appropriate regulatory status of LDTs.

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 CURRENT LEGISLATIVE AND REGULATORY FRAMEWORK “I do think [DTC genetic testing companies] are engaging in a practice that is getting very, very close to [that of] a clinical laboratory. I think that there ought to be a uniform system of standards that are applied both to the commercial sector and to the health care sector, so that the people who receive the information have the same level of confidence—or whatever word you want to use—in the results.” David Korn, M.D. Vice Provost for Research Harvard University to do so. Moreover, a bill pending in the California State Senate would specifically exempt DTC genetic testing companies from CLIA. 11 The FDA is currently developing a report on oversight of DTC genetic testing and has recently acted to regulate DTC tests (see foot - note 3). Appendix B describes how DTC genetic testing is regulated in the United Kingdom and elsewhere outside the United States. QUESTIONS RAISED FOR FURTHER DISCUSSION • How should current federal laws and regulations, particularly the MDA, CLIA, and HIPAA, apply to DTC genetic testing? • Are additional laws and regulations needed? • How should the regulatory gaps—including the concerns raised by the lack of required proficiency testing and the lack of regulatory oversight of laboratory-developed tests—be closed? 11 California SB 482 Senate Bill, Available at: http://info.sen.ca.gov/pub/09-10/bill/sen/sb_0451- 0500/sb_482_bill_20090414_amended_sen_v98.html, Accessed: May 24, 2010.

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