Impact on Health Care and Public Health

DTC genetic testing may rapidly become a force in the health care system. The challenge is ensuring that it matures into a positive, constructive force, rather than a destructive, destabilizing one.

The medical value of genetic testing in certain clinical settings is indisputable. The ability to identify the individuals for whom more frequent screening is warranted—for breast or colon cancer, for example—may significantly reduce mortality from those disorders, enabling earlier diagnosis and treatment in some cases or aggressive prevention, such as prophylactic mastectomies or colectomies, in others. In many cases, these early interventions can significantly reduce not only human suffering, but might reduce health care costs as well.

What is not clear yet, however, is the societal economic value of DTC genetic testing and its corresponding impact on the medical system.

ECONOMICS1

DTC genetic testing might lower overall health care costs by:

  • Encouraging behavior changes and other prevention strategies: This is more likely for highly penetrant genes such as BRCA1 and BRCA2, whereas low-risk genes from a GWAS may have less impact;2

1

 Unless otherwise noted, the section “Economics” reflects the remarks of Kathryn Phillips, Professor of Health Economics and Health Services Research, University of California, San Francisco.

2

 This sentence taken from the remarks of Patricia Ganz, Professor of Health Services, School of Public Health and Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles.



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Impact on Health Care and Public Health DTC genetic testing may rapidly become a force in the health care system. The challenge is ensuring that it matures into a positive, con - structive force, rather than a destructive, destabilizing one. The medical value of genetic testing in certain clinical settings is indisputable. The ability to identify the individuals for whom more frequent screening is warranted—for breast or colon cancer, for exam - ple—may significantly reduce mortality from those disorders, enabling earlier diagnosis and treatment in some cases or aggressive prevention, such as prophylactic mastectomies or colectomies, in others. In many cases, these early interventions can significantly reduce not only human suffering, but might reduce health care costs as well. What is not clear yet, however, is the societal economic value of DTC genetic testing and its corresponding impact on the medical system. ECONOMICS1 DTC genetic testing might lower overall health care costs by: • Encouraging behavior changes and other prevention strategies: This is more likely for highly penetrant genes such as BRCA1 and BRCA2, whereas low-risk genes from a GWAS may have less impact; 2 1 Unless otherwise noted, the section “Economics” reflects the remarks of Kathryn Phillips, Professor of Health Economics and Health Services Research, University of California, San Francisco. 2 This sentence taken from the remarks of Patricia Ganz, Professor of Health Services, School of Public Health and Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles. 

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 DIRECT-TO-CONSUMER GENETIC TESTING • Increasing the prevalence of early detection and intervention; • Shifting the access point for genetic testing from physicians to the Internet; or • Facilitating pharmacogenomics, which might both lower costs and improve outcomes through better targeting of drugs. Or, DTC genetic testing could raise overall health care costs if: • More people decide to get tested; • It results in more tests, follow-on screenings and interventions— many of which would almost certainly be unnecessary, given the current limitations of GWAS; or • A negative test result gives a false sense of security and either leads to under-use of regular check-ups and other preventive measures, or is viewed as permission to resume, continue or commence smoking, poor diet, or a sedentary lifestyle—all behaviors that contribute to a multitude of chronic, multi-billion-dollar-a-year diseases. In light of the potential for overuse of DTC genetic testing, it will be important to determine under what circumstances genetic testing is appropriate and beneficial. The World Health Organization’s long- standing recommendations on disease screening3—which include that the condition should be an important health problem and there should be a treatment available for it—are a good place to begin. In addition, the test must be reliable, sensitive and specific; it must have strong posi - tive and negative predictive values and be actionable. PHySICIAN AWARENESS AND EDUCATION DTC genetic testing companies generally advise clients to discuss test results with their health care providers—the majority of whom are not yet equipped to interpret the results and advise their patients. When tests have known value in clinical medicine (e.g. prenatal test - ing), physicians order them. And for known genetic conditions (can - cer predisposition, for example), many physicians have at least a lim - ited ability to interpret results. Most, however, lack the knowledge and expertise required to discuss the results of a GWAS. As a result, a 3 Wilson MMG, Jungner G., Principles and practice of screening for disease. WHO Chronicle 1968; 22(11): 473.

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 IMPACT ON HEALTH CARE AND PUBLIC HEALTH patient may demand screening tests that have no proven value, or may consider the unsympathetic physician as behind the times and lacking in knowledge.4 A 2008 online survey of 1,880 physicians (including internists, pediatricians, obstetrician/gynecologists, and family-practice physicians) found fewer than half (42 percent) aware of DTC genetic testing. Among those who were aware, 42 percent had been asked by patients about DTC genetic testing, and 15 percent had patients who had brought in test results for discussion. Interestingly, in light of questions posed earlier about clinical utility, 75 percent of physicians who had discussed DTC genetic test results with their patients changed some aspect of the patient’s care, such as screening tests offered, medications or dos - ages prescribed, lifestyle changes recommended, frequency of follow-up appointments, or diagnoses made.5 Clearly, institutions of medical education, including professional societies, need to engage fully in this matter to help physicians increase their knowledge and understanding of genetics so they can discuss the pros, cons and limitations of DTC genetic tests. The question is, “how?” The 2008 survey also asked physicians to rate the five sources they trusted most for patient health-related information. Journal articles scored highest, appearing in 96 percent of respondents’ top five. Other high-scoring sources were government agencies (83 percent), other phy- sicians (80 percent), professional organizations (74 percent) and medical web sites (62 percent); only 2 percent considered the media a trusted source. Asked where they were most likely to get information about DTC genetic testing, however, respondents overwhelmingly cited the media—reflecting a dearth of information available from more trusted sources.6 The Health & Human Services Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) and numerous journal articles 4 From the remarks of Patricia Ganz, Professor of Health Services, School of Public Health and Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles 5 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. 6 This paragraph is based on the remarks of Katrina Goddard, Senior Investigator, Kaiser Per- manente Center for Health Research.

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6 DIRECT-TO-CONSUMER GENETIC TESTING have all lamented the low level of awareness and understanding among physicians.7 For example, • SACGHS found that “[Practitioners] cannot keep up with the pace of genetic tests [and] are not adequately prepared to use test information to treat patients appropriately . . . Practice guidelines are insufficient to ensure appropriate care.”8 • Scheuner et al. wrote in the Journal of the American Medical Asso- ciation that “the primary care workforce, which will be required to be on the frontlines of the integration of genomics into the regular practice of medicine, feels woefully unprepared to do so.”9 • In an article in Nature Reiews Genetics 10 on challenges to genet- ics education for physicians and other health professionals, Guttm- acher et al listed a crowded curriculum, misconceptions about genet- ics, lack of knowledgeable faculty, a disconnect between basic sciences and clinical experiences during training, inadequate representation of genetics on certifying exams, and failure to integrate genetics across the curriculum. • In Genetics in Medicine, Suther and Goodson11 listed a variety of challenges to integrating genetics into primary care: a dearth of genetics professionals, lack of knowledge about genetics among primary-care providers, lack of confidence, lack of referral guidelines, difficulty inter- preting genetic tests, and difficulty explaining genetic risks to patients. In general, medical schools have not embraced the challenge of adequately educating physicians in genetics and genomics. A 2007 pub - lication of a survey 12 of accredited U.S. and Canadian medical schools found that although more than three-quarters teach medical genetics 7 Unless otherwise noted, the remainder of the section “Physician Awareness and Education” is based on the remarks of Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics. 8 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. 9 Scheuner M, Sieverding P, Shekelle P., Delivery of genomic medicine for common chronic adult diseases: a systematic review, JAMA, 2008; 299(11):1320-1334 10 Guttmacher A, Porteous M, McInerney J., Educating health care professionals about genetics and genomics, Nature Reiews Genetics, 2007;8(2):151-7 11 Suther S, Goodson P., Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature, Genetics in Medicine, 2003;5(2):70-6 12 Thurston V, Wales P, Bell M, Torbeck L, Brokaw J., The current status of medical genetics instruction in U.S. and Canadian medical schools, Academic Medicine, 2007; 82 (5):441-445

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 IMPACT ON HEALTH CARE AND PUBLIC HEALTH to first-year students, fewer than half of the schools incorporate it into the 3rd and 4th years—the years that focus on clinical practice. Among medical schools that teach medical genetics, the overwhelming majority teach general concepts rather than practical applications, and only a little more than half integrate the topic into other courses. Only two medical schools—in the University of Vermont and Johns Hopkins University—currently incorporate genetics training into all four years of medical school. Even if this became the norm, however, it will be decades before medical schools produce a critical mass of physicians with the knowledge and confidence to be as comfortable with medical genetics as they will be with the more traditional aspects of health care. A nearer-term solution, then, needs to consider the following: • Whether geneticists will need to become familiar with all medi- cal specialties or whether specialists will need to become conersant in genetics. • In the United Kingdom, a parliamentary report recently con- cluded that it would be necessary for specialists to become conver- sant in genetics;13 there has been no such deliberation or decision yet in the United States. • A related suggestion is to stop using the terms “genetic disor- der” and “genetic disease,” which perpetuates the mistaken impression that genetics is separate and distinct from the rest of medicine.14 • How to proide practicing physicians with the information they need now, or will need tomorrow or next week. • Suggestions being considered include continuing medi- cal education courses, grand rounds, and making the information available online at the point of care, similar to the Physician’s Desk Reference.15 • Unfortunately, according to Levy and colleagues in Genetics 13 From the remarks of Timothy Aitman, Professor of Clinical and Molecular Genetics, Division of Clinical Sciences, Imperial College London 14 From the remarks of Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics 15 www.PDR.net

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 DIRECT-TO-CONSUMER GENETIC TESTING in Medicine,16 “many World Wide Web databases do not answer clinical questions about genetic conditions accurately. None of the resources we tested are efficient enough for point-of-care use. As genetics becomes more prominent in daily patient care, providers will need an efficient, accurate, and accessible source of information.” • In the United States, physician education will likely fall to the various professional societies. In contrast, the UK’s National Genetics Education Development Center is responsible for educating National Health Service (NHS) providers about genetics. To date, however, the center has dealt primarily with single-gene disorders; it has recently begun to address the enormous need to educate the NHS work force on the genetics of common diseases.17 In the long run, many participants agreed that it appears that the health care system will need more primary care physicians knowledge- able about genomics and more genetic counselors. GENETIC COUNSELING18 Genetic counseling is only beginning to emerge from the common misperception that it is primarily about inheritance of single-gene disor- ders and therefore is largely the province of obstetrician/gynecologists or specially trained genetic counselors and pediatricians. Genetic counseling is: “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Counselors interpret family and medical histo- ries; educate clients about inheritance, testing, management, prevention, resources and research; and counsel them to promote informed choices and adaptation to the risk or condition.19 Counseling is often at least as 16 Levy H, LoPresti L, Seibert D., Twenty questions in genetic medicine—an assess- ment of World Wide Web databases for genetics information at the point of care. Genetics in Medicine. 2008;10(9):659-67. 17 From the remarks of Timothy Aitman, Professor of Clinical and Molecular Genetics, Division of Clinical Sciences, Imperial College London. 18 Unless otherwise noted, the section “Genetic Counseling” reflects the remarks of Joseph McInerney, Executive Director, National Coalition for Health Professional Education in Genetics. 19 Resta R, Biesecker B, Bennett R, Blum S, Hahn S, Strecker M, Williams J., A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. Journal of Genetic Counseling. 2006;15(2):77-83.

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 IMPACT ON HEALTH CARE AND PUBLIC HEALTH “. . . we are dealing with a disruptive technology that may truly revo- lutionize the way we practice medicine. But we have to integrate this technology using evidence based practice to show its added value to our current health care system.” Muin J. Khoury, M.D., Ph.D. Director, Office of Public Health Genomics, Centers for Disease Control and Prevention and Senior Consultant in Public Health Genomics, National Cancer Institute vital before a genetic test as it is afterwards; it puts the test in perspective and helps prepare clients for potential findings. Some DTC genetic testing companies offer genetic counseling—via telephone or the Internet, or sometimes in person—as part of their test- ing services. Some have counselors on staff, and others contract with specific counselors and refer clients to them. And at least one charges its customers for the service—$250 per hour.20 Several DTC testing companies currently offer genetic counseling services to their customers at no additional charge, so there is no cost barrier. It appears, however, that clients often are not aware that these services are available—or even what genetic counseling is—and thus do not always benefit from them.21 Billing and reimbursement are already problematic for genetic coun- seling in connection with testing in a traditional clinical setting. As DTC testing becomes more widespread and the industry evolves, reimburse - ment may become an issue in this context as well.22 QUESTIONS RAISED FOR FURTHER DISCUSSION • How can health care systems, in the United States and elsewhere, ensure that the enormous potential of genetic testing generally—and DTC testing in particular—is harnessed and directed to maximize its benefits for human health? • What are the most effective ways to incorporate genetics into 20 From the remarks of Patricia Ganz, Professor of Health Services, School of Public Health and Professor of Medicine, David Geffen School of Medicine, University of California, Los Angeles. 21 From the remarks of Elissa Levin, Director, Genetic Counseling Program, Navigenics, Inc. 22 Concern voiced by a workshop attendee during a question and answer period.

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0 DIRECT-TO-CONSUMER GENETIC TESTING medical education and training—in medical school, in postgraduate (residency and fellowship) training, in continuing medical education, and/or at the point of care? • In light of the general public’s lack of information in the areas of health literacy and genetics and in particular of the role, risks, and benefits of genetic testing in health care, what are the most effective ways to educate the public in these areas? Would multiple education strategies best serve the public interest? • How does framing affect the public’s perception of the risks/ben- efits of genetic testing? • What are the roles and appropriate levels of genetic counseling under various circumstances of genetic testing? • How will DTC genetic testing, pre-test and post-test counseling, and follow-up care be paid for?