Hostname: page-component-586b7cd67f-2plfb Total loading time: 0 Render date: 2024-11-30T17:10:43.714Z Has data issue: false hasContentIssue false
  • English
  • Français

Cancer Genetic Susceptibility Testing: Ethical and Policy Implications for Future Research and Clinical Practice

Published online by Cambridge University Press:  01 January 2021

Benjamin S. Wilfond ,
Karen H. Rothenberg ,
Elizabeth J. Thomson  and
Caryn Lerman
Benjamin S. Wilfond
Affiliation:
Cancer Genetic Studies Consortium, National Institutes of Health
Karen H. Rothenberg
Affiliation:
Cancer Genetic Studies Consortium, National Institutes of Health
Elizabeth J. Thomson
Affiliation:
Cancer Genetic Studies Consortium, National Institutes of Health
Caryn Lerman
Affiliation:
Cancer Genetic Studies Consortium, National Institutes of Health
Get access Rights & Permissions [Opens in a new window]

Extract

Genetic testing for cancer susceptibility is an application of biotechnology that has the potential both to improve the psychosocial and physical wellbeing of the population and to cause significant psychosocia1 and physical harms. In spite of the uncertain value of genetic testing, it has captured the interest of biotechnology companies, researchers, health care providers, and the public. As more tests become feasible, pressure may increase to make the tests available and reimbursable. Both the benefits and harms of these tests lie not as much in the tests themselves, as in their power to predict or alter the future. The value of the tests does not derive from the information per se, but from the ability to communicate effectively the information to patients and providers, and the behavioral responses of patients, providers, and others to this information.

Type
Article
Information
Journal of Law, Medicine & Ethics , Volume 25 , Issue 4 , Winter 1997 , pp. 243 - 251
Copyright
Copyright © American Society of Law, Medicine and Ethics 1997

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

See Collins, F.S., “BRCA1—Lots of Mutations, Lots of Dilemmas,” N. Engl. J. Med., 334 (1996): 186–88; Garber, J.E. Schrag, D., “Testing for Inherited Cancer Susceptibility,” JAMA, 275 (1996): 1928–29; Biesecker, B.B., “Genetic Counseling for Families with Inherited Susceptibility to Breast and Ovarian Cancer,” JAMA, 269 (1993): 1970–74; King, M.C., “Inherited Breast and Ovarian Cancer: What are the Risks? What are the Choices?,” JAMA, 269 (1993): 1975–80; Lerman, C., “BRCA1: Testing in Families with Hereditary Breast-Ovarian Cancer: A Prospective Study of Patient Decision Making and Outcomes,” JAMA, 275 (1996): 1885–92; and Croyle, R.T., “Psychological Responses to BRCA1 Mutation Testing: Preliminary Findings,” Health Psychology, 16 (1997): 63–72.Google Scholar
See Kolata, G., “Breaking Ranks, Lab Offer Test Assessing Cancer Risk,” New York Times, Apr. 1, 1996, at A1; and Myriad Genetics, Press Release, Myriad Genetics Introduces the First Comprehensive Breast/Ovarian Cancer Susceptibility Test (Salt Lake City: Myriad Genetics, 1996) (on file with author).Google Scholar
See Wilfond, B.S. Nolan, K., “National Policy Development for the Clinical Application of Genetic Diagnostic Technologies: Lessons from Cystic Fibrosis,” JAMA, 270 (1993): 1948–54.CrossRefGoogle Scholar
See Botkin, J.R., “A Model Protocol for Evaluating the Behavioral and Psychological Effects of BRCA1 Testing,” Journal of the National Cancer Center, 88 (1996): 872–82.CrossRefGoogle Scholar
See Kash, K.M., “Psychological Distress and Surveillance Behaviors of Women with a Family History of Breast Cancer,” Journal of the National Cancer Center, 84 (1992): 24–30.Google Scholar
See Morrow, M., “Identification and Management of the Woman at Increased Risk for Breast Cancer Development,” Breast Cancer Research and Treatment, 31 (1994): 153–60.CrossRefGoogle Scholar
See Daly, M.B. Lerman, C., “Ovarian Cancer Risk Counseling: A Guide for the Practitioner,” Oncology, 7 (1993): 27–38.Google Scholar
See Struewing, J.P., “Prophylactic Oophorectomy in Inherited Breast/Ovarian Cancer Families,” Journal of the National Cancer Center Monographs, 17 (1995): 33–5; and Stefanek, M.E., “Bilateral Prophylactic Mastectomy: Issues and Concerns,” Journal of the National Cancer Center Monographs, 17 (1995): 37–42.Google Scholar
See Burke, W., “Recommendations for Follow-Up Care of Individuals with an Inherited Predisposition to Cancer II. BRCA1 and BRCA2,” JAMA, 277 (1997): 997–1003; and Burke, W., “Recommendations for Follow-Up Care of Individuals with an Inherited Predisposition to Cancer I. Hereditary Nonpolyposis Colon Cancer,” JAMA, 277 (1997): 915–19. For BRCA1/BRCA2 carriers, clinical breast examinations, mammography, transvaginal ultrasound with color Doppler, and CA-125 levels are recommended annually, beginning between ages twenty-five and thirty-five, for surveillance. This is expert opinion only and there are no studies that demonstrate any benefit. For HNPCC carriers, coloscopy is recommended to begin between ages twenty and twenty-five and to be repeated every one to three years. This recommendation is based on evidence from multiple time series with and without intervention. Transvaginal ultrasound or endometrial biopsies are recommended annually, beginning between ages twenty-five and thirty-five. This is expert opinion only and the benefit has not been proven.CrossRefGoogle Scholar
See American Society of Clinical Oncology, Statement, “Genetic Testing for Cancer Susceptibility,” Journal of Clinical Oncology, 14 (1996): 1730–36.Google Scholar
See, for example, McNeil, B.J., “On the Selection of Preferences for Alternative Therapies,” N. Engl. J. Med., 306 (1982): 1259–62.Google Scholar
See Lerman, C., “Controlled Trial of Pretest Education Approaches to Enhance Informed Decision-Making for BRCA1 Gene Testing,” Journal of the National Cancer Center, 89 (1997): 148–57.CrossRefGoogle Scholar
See Geller, G., “Informed Consent and BRCA1 Testing,” Nature Genetics, 11 (1995): 364.CrossRefGoogle Scholar
See Geller, G., “Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent,” JAMA, 277 (1997): 1467–74.CrossRefGoogle Scholar
See Hudson, K.L., “Genetic Discrimination and Health Insurance: An Urgent Need for Reform,” Science, 270 (1995): 391–93.CrossRefGoogle Scholar
See, for example, President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research, Screening and Counseling for Genetic Conditions: The Ethical, Social, and Legal Implications of Genetic Screening, Counseling, and Education (Washington, D.C.: U.S. Government Printing Office, No. 203, 1983).Google Scholar
See Sorenson, J., “Proband and Parent Assistance in Identifying Relatives of Cystic Fibrosis Carrier Testing,” American Journal of Medical Genetics, 63 (1996): 419–25.3.0.CO;2-M>CrossRefGoogle Scholar
See Key, T.J., “Ethics Committees and Family Ghosts: Case Studies,” Journal of Clinical Ethics, 5 (1994): 19–22.Google Scholar
See DeRenzo, E.G., “Genetics and the Dead: Implications for Genetics Research with Samples from Deceased Persons,” American Journal of Medical Genetics, 69 (1997): 332–34.3.0.CO;2-R>CrossRefGoogle Scholar
See American Society of Human Genetics Board of Directors and the American College of Medical Genetics Board of Directors, “ASHG/ACMG Report Points to Consider: Ethical, Legal and Psychosocial Implications of Genetic Testing in Children and Adolescents,” American Journal of Human Genetics, 57 (1995): 1233–41.Google Scholar
See Lerman, C., “Interest in Genetic Testing Among First-Degree Relatives of Breast Cancer Patients,” American Journal of Medical Genetics, 57 (1995): 385–92.CrossRefGoogle Scholar
See Wilfond, B.S., “Parental Requests for Genetic Testing: Research Regulations as a Guide for Clinical Testing” (1997) (unpublished).Google Scholar
See Botkin, J.R., “Fetal Privacy and Confidentiality,” Hastings Center Report, 25, no. 5 (1995): 32–39; and Lancaster, J.M., “An Inevitable Dilemma: Prenatal Testing for Mutations in the BRCA1 Breast-Ovarian Cancer Susceptibility Gene,” Obstetrics and Gynecology, 87 (1996): 306–09.CrossRefGoogle Scholar
Within the context of genetic testing, clinical utility refers to the direct and indirect psychosocial benefits and harms that occur after this information is conveyed to individuals. See Holtzman, N.A. Watson, M.S., eds., Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing (Bethesda: National Human Genome Research Institute, 1997): At 28–29.Google Scholar
See Mehlman, M.J., “Coverage of Genetic Technologies Under National Health Reform,” American Journal of Human Genetics, 55 (1994): 1054–60.Google Scholar
See Bernhardt, B.A. Pyeritz, R.E., “The Economics of Clinical Genetics Services. III. Cognitive Genetics Services Are Not Self-Supporting,” American Journal of Human Genetics, 44 (1989): 288–93.Google Scholar
See American Society of Human Genetics, “Statement of the American Society of Human Genetics on Genetic Testing for Breast and Ovarian Cancer Predisposition,” American Journal of Human Genetics, 55 (1994): I–iv; National Action Plan on Breast Cancer, “Commentary on the ASCO Statement on Genetic Testing for Cancer Susceptibility,” Journal of Clinical Oncology, 14 (1996): 1738–40; and National Advisory Council for Human Genome Research, “Statement on Use of DNA Testing for Presymptomatic Identification of Cancer Risk,” JAMA, 271 (1994): 785.Google Scholar
See American Society of Clinical Oncology, supra note 10.Google Scholar
See, for example, Myriad Genetics Laboratories, Patient Brochure, Understanding Genetic Predisposition to Breast and Ovarian Cancer (Salt Lake City: Myriad Genetics, Jan. 1997) (on file with author).Google Scholar
See Wilfond, Nolan, , supra note 3.Google Scholar
See Brown, M.L. Kessler, L.G., “The Use of Gene Tests to Detect Hereditary Predisposition to Cancer: Economic Considerations,” Journal of the National Cancer Center, 87 (1995): 1131–36.CrossRefGoogle Scholar
See Office of Technology Assessment, Identifying Health Technologies that Work: Searching for Evidence (Washington, D.C.: U.S. Government Printing Office, 1994).Google Scholar
See Wilfond, Nolan, , supra note 3; and Andrews, L.B., eds., Assessing Genetic Risks: Implications for Health and Social Policy (Washington, D.C.: National Academy Press, 1994).Google Scholar
See Rothstein, M.A., Report of the Joint NIH/DOE Committee to Evaluate the Ethical, Legal, and Social Implications Program of the Human Genome Project (Bethesda: National Institute of Health/Department of Energy, 1996).Google Scholar
See Holtzman, Watson, , supra note 24.Google Scholar
See Rothstein, , supra note 34, at 7.Google Scholar
See Holtzman, Watson, , supra note 24, at 10–11.Google Scholar
See Holtzman, N.A. “Public Participation in Genetic Policy Making,” in Milunsky, A. Annas, G.J., eds., Genetic and the Law II (New York: Plenum Press, 1980): 247–58.Google Scholar