Introduction

In late 2008, Time hailed “The Retail DNA Test” as the “Invention of the Year,”1 and Nature declared 2008 to be “the year in which personal genomics goes mainstream.”2 Today, many pharmacies in the United States sell a home DNA paternity test—often located alongside the array of pregnancy tests; the sample collection kit costs about $20, with an additional $130 to be mailed into the testing lab with the samples.3 As Dr. Alan E. Guttmacher, former director of the National Human Genome Research Institute, and now Director of the National Institute for Child Health and Human Development observed, “Welcome to the Genome Era.”

Major advances in genomic technologies in the early 21st century have helped to increase dramatically the number of genes identified as playing a role in a variety of common disorders.4 These advances,

1

Hamilton, A, TIME’s Best Inventions of 2008, Time Magazine, October 29, 2008. Available at: http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493,00.html, Accessed: September 16, 2010.

2

Yeager, A, The Year In Which…, Nature, 2008; 456 (7224): 844-845.

3

In May 2010, a DTC genetic testing company postponed plans to begin selling a similar home DNA test through a chain of retail pharmacies in the United States, after the Food and Drug Administration (FDA) informed the company that the test kit appeared to be subject to FDA’s medical device review, clearance, and approval processes. The test was intended to enable customers to find out: their likelihood of developing any of 23 conditions including leukemia, Alzheimer’s and certain cancers; whether or not they carry susceptibility genes for any of 23 genetic conditions that are known to be partly genetic—including diabetes; and how they are likely to respond to 10 substances ranging from caffeine to certain drugs for treating high cholesterol and breast cancer. The FDA subsequently sent letters to other DTC genetic testing companies indicating that their products qualified as devices under FDA rules, and therefore required premarket approval.

4

The subjects of the workshop and of this report are DTC genetic tests, which address both genetic diseases and genetic disorders—terms that are often, though not always or entirely, interchangeable. For simplicity, the report uses the term “genetic disorder” throughout—unless quoting or closely paraphrasing a statement by one of the presenters, or in cases where the term “disease” seems more appropriate.



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Introduction In late 2008, Time hailed “The Retail DNA Test” as the “Invention of the Year,”1 and Nature declared 2008 to be “the year in which personal genomics goes mainstream.”2 Today, many pharmacies in the United States sell a home DNA paternity test—often located alongside the array of preg- nancy tests; the sample collection kit costs about $20, with an additional $130 to be mailed into the testing lab with the samples.3 As Dr. Alan E. Guttmacher, former director of the National Human Genome Research Institute, and now Director of the National Institute for Child Health and Human Development observed, “Welcome to the Genome Era.” Major advances in genomic technologies in the early 21st century have helped to increase dramatically the number of genes identified as playing a role in a variety of common disorders.4 These advances, 1 Hamilton, A, TIME’s Best Inventions of 2008, Time Magazine, October 29, 2008. Available at: http://www.time.com/time/specials/packages/article/0,28804,1852747_1854493,00.html, Ac- cessed: September 16, 2010. 2 Yeager, A, The Year In Which…, Nature, 2008; 456 (7224): 844-845. 3 In May 2010, a DTC genetic testing company postponed plans to begin selling a similar home DNA test through a chain of retail pharmacies in the United States, after the Food and Drug Administration (FDA) informed the company that the test kit appeared to be subject to FDA’s medical device review, clearance, and approval processes. The test was intended to enable custom - ers to find out: their likelihood of developing any of 23 conditions including leukemia, Alzheimer’s and certain cancers; whether or not they carry susceptibility genes for any of 23 genetic conditions that are known to be partly genetic—including diabetes; and how they are likely to respond to 10 substances ranging from caffeine to certain drugs for treating high cholesterol and breast cancer. The FDA subsequently sent letters to other DTC genetic testing companies indicating that their products qualified as devices under FDA rules, and therefore required premarket approval. 4 The subjects of the workshop and of this report are DTC genetic tests, which address both genetic diseases and genetic disorders—terms that are often, though not always or entirely, interchangeable. For simplicity, the report uses the term “genetic disorder” throughout—unless quoting or closely paraphrasing a statement by one of the presenters, or in cases where the term “disease” seems more appropriate. 

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 DIRECT-TO-CONSUMER GENETIC TESTING Single-gene and Multi-gene Disorders It is important to distinguish between testing for single-gene (Mende- lian) and multi-gene (complex) disorders. In Mendelian disorders, a “defec- tive” gene may confer a virtually 100 percent probability for the manifesta- tion of the disorder (Huntington’s, for example) or a significant increase in probability (as is the case with the “breast cancer genes” BRCA1 and BRCA2). Mendelian disorders (at least those that have been characterized to date) generally occur in relatively defined and often small populations, with a prevalence of only one in one-thousand—or fewer—of the total popula- tion; because of this, many of them are classified as “rare diseases.” Test- ing for Mendelian disorders occurs primarily within the traditional medical setting, and test results indicate a specific increase in probability—infor- mation that is clinically useful. In contrast, complex disorders tend to be quite common, including the “big four”—Alzheimer’s, cancer, cardiovascular disease and diabetes—and in fact are sometimes referred to using the shorthand “common diseases.” Tests for complex disorders are commercially available primarily through direct-to-consumer genetic testing companies. The frequency with which many complex disorders occur, combined with the very human desire to know—and the wish thereby to “control”—one’s future, have increased demand for DTC genetic testing. Unlike genetic tests for Mendelian dis- orders, however, tests for complex disorders are merely predictive of an altered risk associated with developing a disease. However, with the cur- rent information on SNP associations, the absolute risks tend to be low and are not of significant utility to alter standard of care. combined with significant reductions in the cost of genetic tests, have spawned a new business model in which companies market genetic tests and personalized genetic profiles directly to consumers. The rapid growth and evolution of the direct-to-consumer (DTC) genetic testing, “defined as genetic tests and services that are advertised directly to consumers, that are purchased through consumer-initiated requests, and that provide test results directly to the consumer without the involvement of the consumer’s health care provider,” has increased the focus on a number of issues raised by genetic testing.5 These include scientific, clinical, and technical issues; economic and financial issues; 5 Direct-to-Consumer Genetic Testing, Report of the Secretary’s Advisory Committee on Genetics, Health, and Society, April 2010.

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 INTRODUCTION and free-market and first-amendment issues of honesty, fidelity to facts and truth-in-advertising—as well as the centuries-old tension between individual rights and authority, regulation and social responsibility. 6 Although many of these issues also arise in the context of genetic testing in the traditional clinical setting, the rapid and continuing growth of the DTC industry—estimated to be approaching a billion dollars per year—has increased the urgency to address them. To further both the discussion of these issues in the DTC context and to identify approaches for addressing them appropriately, the National Academies convened a multi-disciplinary panel of experts for a workshop on DTC genetic test - ing, held in Washington, DC, on August 31 and September 1, 2009. The workshop considered a number of questions relating to DTC genetic testing including: • Clinical alue. Beyond the strictly technical criteria of a test’s sen- sitivity, specificity, and analytical validity, what are the associated positive and negative predictive values, and how useful to the consumer is the resulting information? Can the results be used to predict disease sus- ceptibility, and do they provide enough information to enable informed decision making about preventive measures and treatment, including lifestyle changes, that can affect patient outcomes? • Commercial, financial and economic impact. What are the tests’ potential effects on the economy, including changes in GDP? Will they produce savings to individuals and the health care system, or will they increase costs? • Social alue. Will the tests create a better-informed society and encourage positive lifestyle changes? Will they facilitate the formation of useful online patient communities and support groups? • Role in medicine and medical research, and appropriate regula - tion. Are DTC genetic testing companies practicing medicine? Do they have a therapeutic relationship with their customers? If so, what are the regulatory considerations that come into play? When companies use customers’ data for research, do those individuals, become de facto “human research subjects?” If so, are they adequately protected? Are the companies compliant with applicable federal regulations, and what oversight mechanisms need to be in place? As large-scale amassers of genetic data, what are the companies’ responsibilities to provide access to those data by researchers, customers, and society as a whole? Should 6 From the remarks of Harvey Fineberg, President, Institute of Medicine.

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 DIRECT-TO-CONSUMER GENETIC TESTING DTC genetic testing companies be subject to the same legal, regulatory, and ethical regimes as are clinicians and diagnostic and medical research laboratories? • Risks to indiiduals, the health care system, and society. In addi- tion to potential financial and economic risks, what are the risks of overuse, underuse, or inappropriate use of these tests and the resulting information? What are the privacy issues relating to customers and their extended kinships? Should the customers own and control their genetic samples and data? What measures can be taken to ensure that customers are giving fully informed consent? How can public education be improved regarding the risks and benefits of genetic testing and the role of genetic counselors? The organizers recognized that this array of issues and questions could never be fully addressed during the course of a one and a half day workshop—especially given the deeply personal nature of genetic testing, the dynamism of the DTC industry and marketplace, and the profound implications, for both individuals and society as a whole, of the rapidly growing industry and its potential mechanisms of oversight. It is hoped, however, that the workshop and this report will lead to further study, discussion and, ultimately, a way forward. This report summarizes the presentations and discussions at the workshop, organized in the following way: (1) the scientific and ethical foundations for DTC genetic testing—genomic associations, analytic and clinical validity, and clinical utility; (2) personal and social issues arising with regard to DTC genetic testing, particularly privacy, public awareness and understanding, and the need for broad public education; (3) research and medical issues in the context of DTC genetic testing— notably informed consent, the role of institutional review boards, and whether or not the customers of DTC genetic testing companies should be considered human research subjects; (4) the impact on health care and public health, looking particularly at economics, physician aware - ness and education, and genetic counseling; and (5) an overview of the current legislative and regulatory framework governing genetic testing in the United States—particularly the Genetic Information Nondiscrimina- tion Act (GINA), the Clinical Laboratory Improvement Amendments (CLIA), and the Health Insurance Portability and Accountability Act (HIPAA). Finally, at the conclusion of each section, there is a series of “Questions Raised for Further Discussion” that relate to the content of

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 INTRODUCTION the specific section. The report concludes with a holistic examination of a number of areas for further study. Appendixes include a glossary of terms and acronyms, an overview of how DTC genetic testing is cur- rently regulated outside the United States, a list of currently available DTC genetic tests, and a representative list of DTC genetic testing com- panies. Additional appendixes provide biographies of the workshop’s planning group, the workshop agenda and participants, and the mem- bership of the oversight boards and committees. In many places, this report summarizes the commentary of work - shop participants. In such cases, speaker attribution is provided in the report’s footnotes.

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