Personal and Social Issues

Not surprisingly, DTC genetic testing raises a multitude of issues related to individuals’ rights and responsibilities and to how genetic information can affect their relationships with family members and friends, as well as their overall social, emotional and financial well-being. A number of these issues are common to many areas of human health and medical care. Two issues with far-reaching implications are privacy and public awareness, understanding, and education.

PRIVACY1

Privacy has been a long-standing issue in health care and medical research.2 In December 2000, the Clinton administration released the Medical Information Privacy Regulation mandated by the Health Insurance Portability and Accountability Act of 1996 (HIPAA). The incoming Bush administration recalled the regulation, opened it to public review and comment, and in 2002 issued a revised regulation maintaining stringent protection of privacy for all covered personally identifiable health information, but easing access to such information for research and certain hospital administrative uses.

1

 Unless otherwise noted, the section “Privacy” reflects the remarks of Susannah Baruch, Policy Director, Generations Ahead, and Policy Analyst, Genetics and Public Policy Center, Johns Hopkins University.

2

 See for instance, the National Academies’ publications Privacy Issues in Biomedical and Clinical Research, 1998 (Available at: www.books.nap.edu/catalog.php?record_id=6326); Protecting Data Privacy in Health Services Research, 2000 (Available at www.nap.edu/catalog.php?record_id=9952), and Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Research, 2009 (Available at www.nap.edu/catalog.php?record_id=12458); Accessed May 12, 2010.



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Personal and Social Issues Not surprisingly, DTC genetic testing raises a multitude of issues related to individuals’ rights and responsibilities and to how genetic information can affect their relationships with family members and friends, as well as their overall social, emotional and financial well-being. A number of these issues are common to many areas of human health and medical care. Two issues with far-reaching implications are privacy and public awareness, understanding, and education. PRIVACy1 Privacy has been a long-standing issue in health care and medical research.2 In December 2000, the Clinton administration released the Medical Information Privacy Regulation mandated by the Health Insur- ance Portability and Accountability Act of 1996 (HIPAA). The incom- ing Bush administration recalled the regulation, opened it to public review and comment, and in 2002 issued a revised regulation maintain - ing stringent protection of privacy for all covered personally identifiable health information, but easing access to such information for research and certain hospital administrative uses. 1 Unless otherwise noted, the section “Privacy” reflects the remarks of Susannah Baruch, Policy Director, Generations Ahead, and Policy Analyst, Genetics and Public Policy Center, Johns Hop - kins University. 2 See for instance, the National Academies’ publications Priacy Issues in Biomedical and Clinical Research, 1998 (Available at: www.books.nap.edu/catalog.php?record_id=6326); Protecting Data Priacy in Health Serices Research, 2000 (Available at www.nap.edu/catalog.php?record_id=9952), and Beyond the HIPAA Priacy Rule: Enhancing Priacy, Improing Health Through Research, 2009 (Available at www.nap.edu/catalog.php?record_id=12458); Accessed May 12, 2010. 

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 DIRECT-TO-CONSUMER GENETIC TESTING Genetic privacy in particular has become a matter of enormous concern to medical ethicists, policy-makers and the general public. The reasons include (1) a sense that one’s own genome is a unique and ultra- private “personal diary of the future”; (2) arguments about fairness (“my genes are not my fault”); and (3) fear of discrimination and mistreatment based on genetic information. Testifying in March 2007 before the U.S. House of Representatives’ Energy and Commerce Committee’s Subcommittee on Health, Francis Collins, then-director of the National Human Genome Research Insti - tute, cautioned that “[F]ear of genetic discrimination threatens to slow both the advance of such groundbreaking biomedical research and the integration of the fruits of that research into our nation’s health care. If individuals continue to worry that they will be denied health insurance or refused employment because they have a predisposition to a particu - lar disease, they may forego genetic testing that could help guide medical professionals to lessen their risk.”3 Such concerns had spurred the Human Genome Project in 1989 to designate three percent of its total budget for ongoing study of the proj - ect’s ethical, legal and social implications (ELSI)—notably, though not exclusively, privacy and discrimination. Twenty years later, the Genetic Information Nondiscrimination Act (GINA) took effect in November 2009. In simplest terms, GINA protects individuals against access to and adverse use of their genetic information by health insurers and in the workplace. GINA prohibits health insurers from requesting, requiring or using a person’s genetic information in determining eligibility or in setting premium or contribution amounts. Although GINA does not prohibit insurers’ use of genetic information in underwriting life, disability or long-term-care insurance, several states are considering such prohibi - tions (long-term-care insurance by 10 states, and life and disability insurance by 16 states each). GINA also prohibits employers from requesting, requiring, purchas- ing or using genetic information about an individual or family member in any job-related decision. This suggests—though it is not explicitly 3 Testimony by Francis Collins, Director National Human Genome Research Institute on “The Threat of Genetic Discrimination to the Promise of Personalized Medicine” before the U.S. House of Representatives Committee on Ways and Means’ Subcommittee on Health, March 14, 2007. Available at: www.hhs.gov/asl/testify/2007/03/t20070314a.html, Accessed: May 12, 2010.

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 PERSONAL AND SOCIAL ISSUES clear—that individuals who join online communities formed around genetic diseases are protected from any consequences of employers’ intrusive Internet searching. If this is indeed the case, not only would this benefit individuals who join such networks seeking support, advice and information about their diseases, but it might also protect members of online communities formed around ethnic origin against employers’ using ethnicity as a surrogate for health information (the increased risk of certain cancers among Ashkenazi Jews, for example). Moreover, the willingness of more members of genetic-disease and ethnic groups to join online communities without fear of reprisal would help researchers more rapidly identify relevant populations of statistically significant size. What remains unclear at this point is whether GINA extends to genetic information that an employer might request as part of a voluntary workplace wellness program. Such information could range from family history to genetic testing offered through the workplace—a new market that some DTC genetic testing companies are looking to address. GINA applies to the results of any and all genetic tests performed in the United States. HIPAA, however, does not: it only applies to statutorily defined “covered entities” and does not extend to DTC genetic testing companies. Consumers are unlikely to be aware of this technicality, making it crucial that a DTC genetic testing company’s customers fully understand the company’s privacy policies, including rules regarding the sale and disclosure of clients’ data, use of the data in research, and—importantly—under what circumstances those rules can be changed. DTC genetic testing companies generally define their privacy poli- cies in terms of “appropriate” use of genetic information, and some describe their policies as complying with HIPAA. Without HIPAA’s explicit privacy protections and the force of law, however, it is currently unclear what does and does not qualify as “appropriate.” Neither is it clear what procedures are necessary and sufficient to protect the secu - rity and privacy of customers’ samples and genetic information in the companies’ possession. Moreover, DTC genetic testing companies encourage customers to discuss test results with their physicians. As soon as such a discussion occurs—particularly if it results in medical advice, treatment or referral to a specialist—it becomes part of a patient’s medical record, which can be requested by life, disability, and long-term-care insurers.

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6 DIRECT-TO-CONSUMER GENETIC TESTING PUBLIC AWARENESS, UNDERSTANDING, AND EDUCATION Although two national surveys, taken in 2006 and 2008, indicate a substantial increase in public awareness of DTC genetic tests, a majority of the national population continues to be unaware of them. The 2006 survey,5 conducted for the Kaiser Permanente Center for Health Research, found that higher incomes and more education corre- lated with greater awareness of DTC nutrigenomic genetic testing. Among respondents with low, intermediate and high family incomes, the percent- ages aware of the tests were 11, 13, and 16, respectively. More college graduates (19 percent) were aware of the testing than respondents with either limited or no college education (15 and 9 percent, respectively). Among the 14% of 2006 survey respondents who were aware of nutrig- enomic DTC genetic testing, nearly three-quarters (73 percent) had heard or read about it via the media—either a magazine, a newspaper, or televi- sion. Far fewer (less than 10 percent of aware respondents) had learned about it from either the Internet or a health care provider, but this was in 2006—before most DTC genetic testing companies were actively market- ing their products and services on the Internet. Predictors of awareness in the more general 2008 survey,6 funded by the CDC, included age, gender, education, race, and ethnicity. About one-third of one percent of respondents had used DTC genetic test- ing; of those tested, two-thirds had shared results with health care providers. Participation in both surveys was high: the response rate in 2006 was 80 percent, with 5,250 participants; the rate in 2008 was 77 percent, with 5,399 participants. In terms of information now available online, a study published in 20097 compared the information about genetic testing for venous throm- 4 Unless otherwise noted, the section “Public Awareness, Understanding and Education” is taken from the remarks of Katrina Goddard, Senior Investigator, Kaiser Permanente Center for Health Research. 5 Goddard K, Moore C, Ottman D, Szegda K, Bradley L, Khoury M., Awareness and use of direct- to-consumer nutrigenomic tests, United States, 2006, Genetics in Medicine, 2007, 9(8):510–517. 6 Kolor K, Liu T, St Pierre J, Khoury M., Health care provider and consumer awareness, per- ceptions, and use of direct-to-consumer personal genomic tests, United States, 2008, Genetics in Medicine. 2009, 11(8):595. 7 Goddard K, Robitaille J, Dowling N, Parrado A, Fishman J, Bradley L, Moore C, Khoury M., Health-related direct-to-consumer genetic tests: a public health assessment and analysis of prac - tices related to Internet-based tests for risk of thrombosis. Public Health Genomics, 2009, 12 (2): 92-104.

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 PERSONAL AND SOCIAL ISSUES boembolism, a circulatory disorder, found on the websites of five DTC genetic testing companies, the American College of Medical Genet- ics (ACMG) and the College of American Pathologists (CAP). The comparison found that the commercial sites tended to use simplified language, the effect of which was not only to make it more understand- able for the general public, but also to lead the public to believe that testing is indicated for a broader class of persons. Moreover, in contrast with the ACMG and CAP sites, both of which listed several benefits and several risks of genetic testing, two of the commercial sites listed fewer of both, and the other three provided no information whatsoever on either benefits or risks. Another study,8 also published in 2009, looked at the impact of risk information on public attitudes toward DTC genetic testing. Women who received information about risks associated with BRCA testing were significantly less disposed toward being tested than those who “. . . the ability to receive test received no information; they also results . . . off the grid, out of had a markedly higher preference sight, out of pocket—to keep for genetic testing in a clinical set- it under your control . . . for ting over DTC testing. people who care about privacy, [direct-to-consumer] may seem 9—published A preceding study particularly appealing as an in 2005—also using BRCA as an option. But . . . if the informa- example, examined the effect of tion you get direct-to-consumer advertising on both the public’s actually matters to your health, interest in a genetic test and also it’s not going to stay private.” its understanding of the test’s Susannah Baruch applications. After the advertising Policy Director, campaign, the number of women Generations Ahead and expressing interest in BRCA testing Policy Analyst, Genetics and more than tripled. Comparing the Public Policy Center, women who expressed interest in Johns Hopkins University BRCA testing before and after the 8 Gray S, O’Grady C, Karp L, Smith D, Schwartz J, Hornik R, Armstrong K. Risk informa- tion exposure and direct-to-consumer genetic testing for BRCA mutations among women with a personal or family history of breast or ovarian cancer, Cancer Epidemiology, Biomarkers & Preen- tion, 2009; 18(4):1303-11. 9 Mouchawar J, Hensley-Alford S, Laurion S, Ellis J, Kulchak-Rahm A, Finucane M, Meenan R, Axell L, Pollack R, Ritzwoller D., Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment. Genetics in Medicine, 2005, 7(3):191-197.

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 DIRECT-TO-CONSUMER GENETIC TESTING advertising campaign, more than two-thirds of those interested before the campaign were appropriate candidates for the testing; after the campaign, a bit less than half were appropriate candidates. The cam - paign clearly succeeded in generating interest in the test; it was far less successful, however, in clarifying who might and might not benefit from it and why. As the results of genetic research increasingly inform health care and influence medical decisions, consumers will need to understand genetic tests’ risks and benefits, their relevance and limitations. To encourage a common language that facilitates discussions between patients and their health care providers, education for the public and for health profes- sionals should be complementary.10 QUESTIONS RAISED FOR FURTHER DISCUSSION • How can consumers’ genetic privacy be protected, and how can consumers be reassured that their genetic information will indeed remain private? • Should GINA explicitly extend to employers’ wellness programs and to genetic information gathered on the Internet? • Should HIPAA’s privacy protections be extended explicitly to genetic information, no matter where it is collected and stored? • Should there be a single privacy policy to which all DTC genetic testing companies are required to adhere? If so, how should it be devel - oped and enforced? • Should there be guidelines that all DTC genetic testing compa- nies must follow in describing the risks, benefits and appropriate appli - cations of the tests they offer? If so, how should these be developed and enforced? • What is the most effective way of educating the general public on genetics, genetic testing, and risk? • What kinds of interventions will be effective in helping to reduce disparities in awareness and understanding of genetics and genetic test - ing among ethnic and socioeconomic groups? 10 From the remarks of Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics.