Genetic testing for susceptibility to adult-onset cancer: The process and content of informed consent

JAMA

Volumn 277, Issue 18, 1997, Pages 1467-1474

  Geller, Gail ^a   Botkin, Jeffrey R ^b   Green, Michael J ^c   Press, Nancy ^d   Biesecker, Barbara B ^e   Wilfond, Benjamin ^f   Grana, Generosa ^g   Daly, Mary B ^h   Schneider, Katherine ⁱ   Kahn, Mary Jo Ellis ^j  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^g Cancer Center of Southern New Jersey   (United States)

^h FOX CHASE CANCER CENTER   (United States)

ⁱ DANA FARBER CANCER INSTITUTE   (United States)

^j National Breast Cancer Coalition   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CANCER; CANCER DIAGNOSIS; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; HUMAN; INFORMED CONSENT; PRIORITY JOURNAL; REVIEW;

EID: 0030939329     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.277.18.1467     Document Type: Review

References (122)

1. Levine AJ. The genetic origins of neoplasia. JAMA. 1995;273:592.
2. Rowley JD, Aster JC, Sklar J. The clinical applications of new DNA diagnostic technology on the management of cancer patients. JAMA. 1993;270: 2331-2337.
3. Liu B, Parsons RE, Hamilton SR, et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res. 1994;54:4590-4594.
4. Papadopoulas N, Nicolaides NC, Wei Y-F, et al. Mutation of a mutL homolog in hereditary colon cancer. Science. 1994;263:1625-1629.
5. Nicolaides NC, Papadopoulas N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371:75-80.
6. Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66-71.
7. Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994; 265:2088-2090.
8. Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science. 1990;250: 1233-1238.
9. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer, I: hereditary nonpolyposis colon cancer. JAMA. 1997;277:915-919.
10. Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer, II: BRCA1 and BRCA2. JAMA. 1997;277:997-1003.
11. National Advisory Council for Human Genome Research. Statement on use of DNA testing for presymptomatic identification of cancer risk. JAMA. 1994;271:785.
12. Garber JE, Schrag D. Testing for cancer susceptibility. JAMA. 1996;275:1928-1929.
13. Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst. 1992;84:1156-1160.
14. Lerman C, Narod S, Schulman K, et al. BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. JAMA. 1996;275:1885-1892.
15. Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. Am J Hum Genet. 1994;55:i-iv.
16. Presymptomatic genetic testing for heritable breast cancer risk. Press release of the National Breast Cancer Coalition. Washington, DC, September 28, 1995.
17. Kahn P. Coming to grips with genes and risk. Science. 1996;274:496-498.
18. Geller G, Kass NE. Informed consent in the context of prenatal HIV screening. In: Faden RR, Geller G, Powers GM, eds. AIDS, Women and the Next Generation: Towards a Morally Acceptable Public Policy on HIV Screening of Pregnant Wamen and Newborns. New York, NY: Oxford University Press; 1991.
19. Garber JE, Patenaude AF. Ethical, social and counselling issues in hereditary cancer susceptibility. Cancer Surv. 1995;25:381-397.
20. Lippman A. Prenatal genetic testing and screening: constructing needs and reinforcing inequities. Am J Law Med. 1991;17:15-50.
21. Hofman KA, Tambor ES, Chase GA, Geller G, Faden RR, Holtzman NA. Physicians' knowledge of genetics and genetic tests. Acad Med. 1993;68: 625-632.
22. Lee JM. Screening and informed consent. N Engl J Med. 1993;328:438-440.
23. Holtzman NA. Are we ready to screen for inherited susceptibility to cancer? Oncology. 1996; 10:57-64.
24. ASHG/ACMG Report. Points to consider: ethical, legal and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet. 1995;57:1233-1241.
25. Appelbaum PS, Lidz CW, Meisel A. Informed Consent: Legal Theory and Clinical Practice. New York, NY: Oxford University Press; 1987.
26. Faden RR, Beauchamp TL, King NP. A History and Theory of Informed Consent. New York, NY: Oxford University Press, 1986:86.
27. Elias S, Annas GJ. Generic consent for genetic screening. N Engl J Med. 1994;330:1611-1613.
28. Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing Genetic Risks: Implications for Health and Social Policy. Washington, DC: National Academy Press; 1994:259-282.
29. Press N, Browner CH. Risk, autonomy, and responsibility: informed consent for prenatal testing. Hastings Cent Rep. 1995;25:S9-S12.
30. Marteau TM. Towards informed decisions about prenatal testing: a review. Prenat Diagn. 1996;14: 1215-1226.
31. Holtzman NA, Faden RR, Chwalow JA, Horn SD. Effect of informed consent on mothers' knowledge of newborn screening. Pediatrics. 1983;72:807-812.
32. Sharp NF. Informed consent and Huntington disease: a model for communication. Am J Med Genet. 1994;50:239-246.
33. President's Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research. Washington, DC: Public Health Service; 1979.
34. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. The Ethical and Legal Implications of Informed Consent in the PatientPractitioner Relationship. Washington, DC: US Government Printing Office; 1982;1:74-76.
35. Andrews LB. Regulation of genetic research in humans. In: Medical Genetics: A Legal Frontier. Chicago, I11: American Bar Foundation; 1987:38-41.
36. Office of Protection From Research Risks. Protecting Human Research Subjects: Institutional Review Board Guidebook. Bethesda, Md: National Institutes of Health; 1993:42-63.
37. Kent G. Shared understandings for informed consent: the relevance of psychological research on the provision of information. Soc Sci Med. 1996;43: 1517-1523.
38. Katz J. The Silent World of Doctor and Patient. New York, NY: Free Press; 1984.
39. Mazur DJ. Why the goals of informed consent are not realized: treatise on informed consent for the primary care physician. J Gen Intern Med. 1988; 3:370-379.
40. Lidz CW, Meisel A, Osterweis M, Holden JL, Marx JH, Munetz MR. Barriers to informed consent. Ann Intern Med. 1983;99:539-543.
41. Katz J. Why doctors don't disclose uncertainty. Hastings Cent Rep. 1984;38:35-44.
42. Taylor KM, Keiner M. Informed consent: the physician's perspective. Soc Sci Med. 1987;24:135-143.
43. Carter MA. Patient-provider relationship in the context of genetic testing for hereditary cancers. J Natl Cancer Inst Monogr. 1995;17:119-121.
44. Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR, Holtzman NA. Incorporation of genetics into primary care practice: will physicians do the counseling and will they be directive? Arch Fam Med. 1993;2:1119-1125.
45. Lidz CW, Applebaum P, Meisel A. Two models of implementing informed consent. Arch Intern Med. 1988;148:1385-1389.
46. Asch A, Geller G. Feminism, bioethics and genetics. In: Wolf S, ed. Feminism and Bioethics: Beyond Reproduction. New York, NY: Oxford University Press; 1996.
47. Betancourt H, Lopez SR, The study of culture, ethnicity, and race in American psychology. Am Psychol. 1993;48:629-637.
48. Gostin LO. Informed consent, cultural sensitivity, and respect for persons. JAMA. 1995;274: 844-845.
49. Carrese J, Rhodes LA. Western bioethics on the Navajo reservation: benefit or harm? JAMA. 1995;274:826-829.
50. Geller G, Bernhardt BA, Helzlsouer KA, Holtzman NA, Stefanek MM, Wilcox PM. Informed consent and BRCA1 testing. Nat Genet. 1995;11:364.
51. Wang V, Marsh FH. Ethical principles and cultural integrity in health care delivery: Asian ethnocultural perspectives in genetic services. J Genet Couns. 1992;l:81-92.
52. Wang WO. Cultural competency in genetic counseling. J Genet Couns. 1994;3:267-277.
53. Punales-Morejon D, Rapp R. Ethnocultural diversity and genetic counseling training: the challenge for a twenty-first century. J Genet Couns. 1993;2:155-158.
54. Weil J, Mittman I. A teaching framework for cross-cultural genetic counseling. J Genet Couns. 1993;2:159-169.
55. Dixson B, Dang V, Cleveland JO, Peterson RM. An education program to overcome language and cultural barriers to genetic services. J Genet Couns. 1992;1:267-274.
56. Botkin J, Croyle RT, Smith KR, et al. A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. J Natl Cancer Inst. 1996;88:872-882.
57. Rosoff AJ. Informed Consent: A Guide for Health Care Providers. Rockville, Md: Aspen Publications; 1981.
58. Bernhardt BA, Geller G, Strauss M, et al. Towards a model informed consent process: a qualitative assessment of women's attitudes about genetic testing for breast cancer risk. J Genet Couns. In press.
59. Geller G, Strauss M, Bernhardt BA, Holtzman NA. 'Decoding' informed consent: insights from women regarding genetic testing for breast cancer susceptibility. Hastings Cent Rep. 1997;27:28-33.
60. Singer GGS. Clarifying the duties and goals of genetic counselors: implications for nondirectiveness. In: Gert B, Berger EM, Cahill GF, et al, eds. Morality and the New Genetics: A Guide for Students and Health Care Providers. Sudbury, Mass: Jones & Bartlett Publishers Inc; 1996.
61. Allen KD, Hodges ED, Knudsen SK. Comparing four methods to inform parents about child behavior management: how to inform for consent. Pediatr Dent. 1995;17:180-186.
62. Muss HB, White DR, Michielutte R, et al. Written informed consent in patients with breast cancer. Cancer. 1979;43:1549-1556.
63. Dodd MJ, Mood DW. Chemotherapy: helping patients to know the drugs they are receiving and their possible side effects. Cancer Nurs. 1981;4: 311-318.
64. Silva MC, Sorrell JM. Enhancing comprehension of information for informed consent: a review of empirical research. IRB. 1988;10:1-5.
65. Faden RR, Chwalow AJ, Orel-Crosby E, Holtzman NA, Chase GA, Leonard CO. What participants understand about a maternal serum alpha fetoprotein screening program. Am J Public Health. 1985;75:1381-1384.
66. Barbour GL, Blumenkrantz MJ. Videotape aids informed consent decision. JAMA. 1978;240:2741-2742.
67. Westreich L, Levine S, Ginsburg P, Wilets I. Patient knowledge about electroconvulsive therapy: effect of an informational video. Convuls Ther. 1995; 11:32-37.
68. Kasper JF, Mulley AG, Wennberg JE. Developing shared decision-making programs to improve the quality of health care. QRB Qual Rev Bull. 1992;18:183-190.
69. Hopper KD, Zajdel M, Hulse SF, et al. Interactive method of informing patients of the risks of intravenous contrast media. Radiology. 1994;192: 67-71.
70. Wetstone SL, Sheehan TJ, Votaw RS, Peterson MG, Rothfield N. Evaluation of a computer based education lesson for patients with rheumatoid arthritis. J Rheumatol. 1985;12:907-912.
71. Smith JM, Pike RA, Jakubowski B, Pardoe JR. Survey of computer programs for diabetes management and education. Diabetes Educ. 1988;14: 412-415.
72. Kumar NB, Bostow DE, Schapira DV, Kritch KM. Efficacy of interactive, automated programmed instruction in nutrition education for cancer prevention. J Cancer Educ. 1993;8:203-211.
73. Gustafson DH, Bosworth K, Hawkins RP, Boberg EW, Bricker E. CHESS: a computer-based system for providing information, referrals, decision support and social support to people facing medical and other health related crises. In: Firese ME, ed. Sixteenth Annual Symposium on Computer Applications in Medical Care. New York, NY: McGraw-Hill; 1993:161-165.
74. Slack WV, Hicks GP, Reed CE, Van Cura LJ. A computer-based medical history system. N Engl J Med. 1966;274:194-198.
75. Slack WV, Slack CW. Patient-computer dialogue. N Engl J Med. 1972;286:1304-1309.
76. Tibbies L, Lewis C, Reisine S, Rippey R, Donald M. Computer-assisted instruction for preoperative and postoperative patient education in joint replacement surgery. Comput Nurs. 1992; 10:208-212.
77. Leirer VO, Morrow DG, Pariante GM, Sheikh JI. Elders' nonadherence, its assessment, and computer-assisted instruction for medication recall training. J Am Geriatr Soc. 1988;36:877-884.
78. Slack W. Patient counseling by computer. In: Zoog S, Yarnall S, eds. The Changing Health Care Team: Improving Effectiveness in Patient Care. Seattle, Wash: Medical Communications and Services Assoc; 1976:108-111.
79. Ghosh A, Greist JH. Computer treatment in psychiatry. Psychiatr Ann. 1988;18:246-250.
80. Kahn G. Computer-based patient education: a progress report. MD Comput. 1993;10:93-99.
81. Gillispie MA, Ellis LBM. Computer-based patient education revisited. J Med Syst. 1993;17:119-125.
82. Kinzie MB, Schorling JB, Siegel M. Prenatal alcohol education for low-income women with interactive multimedia. Patient Educ Couns. 1993; 21:51-60.
83. Kulik CC, Kulik JA. Effectiveness of computer-based instruction: an updated analysis. Comput Hum Behav. 1991;7:75-94.
84. Price RV. Computer-Aided Instruction: A Guide for Authors. Pacific Grove, Calif: Brooks/Cole Publishing Co; 1991.
85. Blackwell M, Niemiec R, Walberg H. CAI can be doubly effective. Phi Delta Kappa. 1986;67:750-751.
86. Philipson SJ, Doyle MA, Gabram SGA, Nightingale C, Philipson EH. Informed consent for research: a study to evaluate readability and processability to effect change. J Invest Med. 1995;43: 459-467.
87. Hopper KD, TenHave TR, Hartzel J. Informed consent forms for clinical and research imaging procedures: how much do patients understand? AJR Am J Roentgenol. 1995;164:493-496.
88. Grundner TM. On the readability of surgical consent forms. N Engl J Med. 1980;302:900-902.
89. Meade CD, Howser DM. Consent forms: how to determine and improve their readability. Oncol Nurs Forum. 1992;19:1523-1528.
90. Doak CC, Doak LG, Root JH. Teaching Patients With Low Literacy Skills. Philadelphia, Pa: JB Lippincott; 1996.
91. White CS, Mason AC, Feehan M, Templeton PA. Informed consent for percutaneous lung biopsy: comparison of two consent protocols based on patient recall after the procedure. AJR Am J Roentgenol 1995;165:1139-1142.
92. Morrow G, Gootnick J, Schmale A. A simple technique for increasing cancer patients' knowledge of informed consent to treatment. Cancer. 1978;42:793-799.
93. Bernhardt BA, Chase GA, Faden RR, et al. Educating patients about cystic fibrosis carrier screening in a primary care setting. Arch Fam Med. 1996;5:336-340.
94. Miller R, Willner HS. The two-part consent form: a suggestion for promoting free and informed consent. N Engl J Med. 1974;290:964-965.
95. Taub HA, Baker MT. A reevaluation of informed consent in the elderly: a method for improving comprehension through direct testing. Clin Res. 1984; 32:17-21.
96. Early CL, Strong LC. Certificate of confidentiality: a valuable tool for protecting genetic data. Am J Hum Genet 1995;57:727-731.
97. Biesecker BB, Boehnke M, Calzone K, et al. Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. JAMA. 1993;269:1970-1974.
98. Smith JR, Freije D, Carpten JD, et al. Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science. 1996;274:1371-1374.
99. Croyle R, Smith K, Botkin J, Baty B, Nash J. Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychol. 1997;16: 63-72.
100. Wiggins S, Whyte P, Huggins M, et al. The psychological consequences of predictive testing for Huntington's disease. N Engl J Med. 1992;327: 1401-1405.
101. Huggins M, Bloch M, Wiggins S, et al. Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet. 1992; 42:508-515.
102. Lynch HT, Watson P, Conway TA, et al. DNA screening for breast/ovarian cancer susceptibility on linked markers: a family study. Arch Intern Med. 1993;153:1979-1987.
103. Lerman C, Daly M, Masny A, Balshem A. Attitudes about genetic testing for breast-ovarian cancer susceptibility. J Clin Oncol 1994;12:843-850.
104. US Congress, Office of Technology Assessment. Genetic Tests and Health Insurance: Results of a Survey: Background Paper. Washington, DC: US Government Printing Office; October 1992. Publication OTA-BP-BA-98.
105. NIH-DOE Working Group on Ethical, Legal, and Social Implications of Human Genome Research. Genetic Information and Health Insurance: Report of the Task Force on Genetic Information and Health Insurance. Washington, DC: US Dept of Health and Human Services; May 1993. NIH publication 93-3686.
106. Brown RS, Marshall K, eds. Advances in Genetic Information: A Guide for State Policy Makers. 2nd ed. Lexington, Ky: Council of State Governments; 1993.
107. American Council of Life Insurance and The Health Insurance Association of America. Report of the ACLI-HIAA Task Force on Genetic Testing. Washington, DC: American Council of Life Insurance; 1991.
108. Hudson KL, Rothernberg KH, Andrews LB, Kahn MJ, Collins F. Genetic discrimination and health insurance: an urgent need for reform. Science. 1995;270:391-393.
109. Ostrer H, Allen W, Crandall LA, et al. Insurance and genetic testing: where are we now? Am J Hum Genet. 1993;52:565-577.
110. Rothstein MA. Genetics insurance, and the ethics of genetic counseling. In: Molecular Genetic Medicine. Vol 3. Orlando, Fla: Academic Press Inc; 1993:159-177.
111. Health Insurance Portability and Accountability Act of 1996, Pub L No. 104-191, 110 Stat 1936.
112. Hereditary Susceptibility Working Group of the National Action Plan on Breast Cancer. Commentary on ASCO (American Society of Clinical Oncology) statement on genetic testing for cancer susceptibility. J Clin Oncol 1996;14:1738-1740.
113. American Society of Clinical Oncology. Genetic testing for cancer susceptibility. J Clin Oncol. 1996;14:1730-1736.
114. Lapham EV, Kozma C, Weiss JO. Genetic discrimination: perspectives of consumers. Science. 1996;274:621-624.
115. McEwen JE, Reilly PR. State legislative efforts to regulate use and potential misuse of genetic information. Am J Hum Genet. 1992;51:637-647.
116. Natowitz MR, Alper JK, Alper JS. Genetic discrimination and the Americans With Disabilities Act. Am J Hum Genet. 1992;51:895-897.
117. Equal Employment Opportunity Commission. Compliance Manual, vol 1. Washington, DC: Equal Employment Opportunity Commission; March 14, 1995. EEOC order 915.002, section 902.
118. Nixon DW. Status of cancer prevention clinical trials. De Vita VT Jr, Hellman S, Rosenberg SA, eds. Cancer Prevention Update. Philadelphia, Pa: JB Lippincott; 1991:1-9.
119. Winter PR, Wiesner GL, Finnegan J, et al. Notification of a family history of breast cancer: issues of privacy and confidentiality. Am J Med Genet. 1996;66:1-6.
120. ASHG Board of Directors Report. Statement on informed consent for genetic research. Am J Hum Genet. 1996;59:471-474.
121. Clayton EW, Steinberg KK, Khoury MJ, et al. Informed consent for genetic research on stored tissue samples. JAMA. 1995;274:1786-1792.
122. ACMG (American College of Medical Genetics) Storage of Genetic Materials Committee. Statement on storage and use of genetic materials. Am J Hum Genet. 1995;57:1499-1500.