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Direct-to-Consumer Genetic Testing: Summary of a Workshop (2011)

Chapter: Personal and Social Issues

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Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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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 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.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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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 Institute, 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 particular 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 project’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 prohibitions (long-term-care insurance by 10 states, and life and disability insurance by 16 states each).

GINA also prohibits employers from requesting, requiring, purchasing 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.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×

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 policies 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 security 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.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×

PUBLIC AWARENESS, UNDERSTANDING, AND EDUCATION4

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 correlated with greater awareness of DTC nutrigenomic genetic testing. Among respondents with low, intermediate and high family incomes, the percentages 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 nutrigenomic DTC genetic testing, nearly three-quarters (73 percent) had heard or read about it via the media—either a magazine, a newspaper, or television. 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 marketing 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 testing; 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, perceptions, 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 practices related to Internet-based tests for risk of thrombosis. Public Health Genomics, 2009, 12 (2): 92-104.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×

boembolism, a circulatory disorder, found on the websites of five DTC genetic testing companies, the American College of Medical Genetics (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 understandable 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 received no information; they also had a markedly higher preference for genetic testing in a clinical setting over DTC testing.

“… the ability to receive test results … off the grid, out of sight, out of pocket—to keep it under your control … for people who care about privacy, [direct-to-consumer] may seem particularly appealing as an option. But … if the information you get direct-to-consumer actually matters to your health, it’s not going to stay private.”


Susannah Baruch

Policy Director, Generations Ahead and Policy Analyst, Genetics and Public Policy Center, Johns Hopkins University

A preceding study9—published in 2005—also using BRCA as an example, examined the effect of advertising on both the public’s interest in a genetic test and also its understanding of the test’s applications. After the advertising campaign, the number of women expressing interest in BRCA testing more than tripled. Comparing the women who expressed interest in BRCA testing before and after the

8

 Gray S, O’Grady C, Karp L, Smith D, Schwartz J, Hornik R, Armstrong K. Risk information 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 & Prevention, 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.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×

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 campaign 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 professionals 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 developed and enforced?

  • Should there be guidelines that all DTC genetic testing companies must follow in describing the risks, benefits and appropriate applications 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 testing among ethnic and socioeconomic groups?

10

 From the remarks of Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics.

Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
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Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
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Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
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Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
Page 16
Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
Page 17
Suggested Citation:"Personal and Social Issues." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
×
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Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing.

Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives.

To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

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