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

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.

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).

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.

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.

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.

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.

See Daly M.B. Lerman C. , “Ovarian Cancer Risk Counseling: A Guide for the Practitioner,” Oncology, 7 (1993): 27–38.

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.

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.

See American Society of Clinical Oncology, Statement, “Genetic Testing for Cancer Susceptibility,” Journal of Clinical Oncology, 14 (1996): 1730–36.

See, for example, McNeil B.J. , “On the Selection of Preferences for Alternative Therapies,” N. Engl. J. Med., 306 (1982): 1259–62.

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.

See Geller G. , “Informed Consent and BRCA1 Testing,” Nature Genetics, 11 (1995): 364.

See Geller G. , “Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent,” JAMA, 277 (1997): 1467–74.

See Hudson K.L. , “Genetic Discrimination and Health Insurance: An Urgent Need for Reform,” Science, 270 (1995): 391–93.

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).

See Sorenson J. , “Proband and Parent Assistance in Identifying Relatives of Cystic Fibrosis Carrier Testing,” American Journal of Medical Genetics, 63 (1996): 419–25.

See Key T.J. , “Ethics Committees and Family Ghosts: Case Studies,” Journal of Clinical Ethics, 5 (1994): 19–22.

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.

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.

See Lerman C. , “Interest in Genetic Testing Among First-Degree Relatives of Breast Cancer Patients,” American Journal of Medical Genetics, 57 (1995): 385–92.

See Wilfond B.S. , “Parental Requests for Genetic Testing: Research Regulations as a Guide for Clinical Testing” (1997) (unpublished).

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.

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.

See Mehlman M.J. , “Coverage of Genetic Technologies Under National Health Reform,” American Journal of Human Genetics, 55 (1994): 1054–60.

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.

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.

See American Society of Clinical Oncology, supra note 10.

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).

See Wilfond Nolan , supra note 3.

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.

See Office of Technology Assessment, Identifying Health Technologies that Work: Searching for Evidence (Washington, D.C.: U.S. Government Printing Office, 1994).

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).

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).

See Holtzman Watson , supra note 24.

See Rothstein , supra note 34, at 7.

See Holtzman Watson , supra note 24, at 10–11.

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.