This article presents and discusses four clinical cases that exemplify the complexity of ethical dilemmas concerning the provider’s obligation to disclose or withhold genetic information from patients.
Case 1: What is the responsibility of the cancer genetics provider to ensure that a positive test results is shared with distant relatives?
Case 2: To ensure that results go to at-risk relatives, do we have the right to ignore the wishes of the designated next-of-kin?
Case 3: Do we have the right to reveal a familial BRCA1 mutation to a patient’s relative, who is at 50% risk?
Case 4: Do we have an obligation to reveal that a patient is not a blood relative and therefore, not at risk to have inherited a familial mutation?
These cases form the basis for discussing the provider’s dual obligations to keeping patient confidentiality and informing patients and families about risk (i.e. duty to warn). We also provide a summary of consensus points and additional discussion questions for each case.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
REFERENCES
American Society of Clinical Oncology (2003). American Society of Clinical Oncology Policy Statement Update: Genetic testing for cancer susceptibility. J Clin Oncol, 21, 2397–2406.
American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure (1998). ASHG statement: Professional disclosure of familial genetic information. Am J Hum Genet, 61, 474–483.
Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, A., Eyfjord, E., Hopper, J. L., et al. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet, 72, 1117–1130.
Bower, M. A., McCarthy Veach, P., Bartels, D. M., & LeRoy, B. S. (2002). A survey of genetic counselors’ strategies for addressing ethical and professional challenges in practice. J Genet Counsel, 11, 163–186.
Bryant, J., Baggott la Velle, L., & Searle, J. (2005). Ethics and Bioethics. In Introduction to Bioethics (pp. 17–28). West Sussex, England: John Wiley & Sons.
Di Pietro, M. L., Giuli, A., & Spagnolo, A. G. (2004). Ethical implications of predictive DNA testing for hereditary breast cancer. Annals of Oncol, 15(suppl 1), i65–i70.
Doukas, D. J. (2003). Genetics providers and the family covenant: connecting individuals with their families. Genet Test, 7, 315–321.
Forrest, K., Simpson, S. A., Wilson, B. J., van Teijllingen, E. R., McKee, L., Haites, N., et al. (2003). To tell or not to tell: Barriers and facilitators in family communication about genetic risk. Clin Genet, 64, 317–326.
Gaff, C. L., Collins, V., Symes, T., & Halliday, J. (2005). Facilitating family communication about predictive genetic testing: Probands’ perceptions. J Genet Counsel, 14, 133–140.
Garber, J. E., Goldstein, A. M., Kantor, K. F., Dreyfus, M. G., Fraumeni, J. F. Jr., & Li, F. P. (1991). Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res, 51, 6094–6097.
Harris, M., & Winship, I. (2005). Controversies and ethical issues in cancer-genetics clinics. Lancet Oncol, 6, 301–310.
Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L., et al. (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. Natl Cancer Inst, 93, 1633–1637.
Jarvinen, H. J., Aarnio, M., Mustonen, H., Aktan-Collan, K., Aaltonen, L. A., Peltomake, P., et al. (2000). Controlled 15-year trial on screening for colorectal cancer in families with hereditary non-polyposis colorectal cancer. Gastroenterology, 118, 829–834.
Kauff, N. D., Satagopan, J. M., Robson, M. E., Scheuer, L., Hensley, M., Hudis, C. A., et al. (2002). Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med, 346, 1609–1615.
Maley, J. A. (1994). An Ethics Casebook for Genetic Counselors. Wallingford, PA: A publication of the National Society of Genetic Counselors, Inc.
McGivern, B., Everett, J., Yager, G. G., Baumiller, R. C., Hafertepen, A, & Saal, H. M. (2004). Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med, 6, 503–509.
National Society of Genetic Counselors (1992). National Society of Genetic Counselors Code of Ethics. J Genetic Counsel, 1, 41–43.
Patenaude, A. (2005) Cancer Genes and Cancer Risk. In Genetic Testing for Cancer: Psychological Approaches for helping Patients and Families (pp. 41–73). Washington DC: American Psychological Association.
Pentz, R. D., Peterson, S. K., Watts, B., Vernon, S. W., Lynch, P. M., Koehly, L. M., et al. (2005). Hereditary nonpolyposis colorectal cancer family members’ perceptions about the duty to inform and health professionals’ role in disseminating genetic information. Genetic Testing, 9, 261–268.
Safer v Estate of Pack (1996). 677 A.2d 1188, NJ Super A.D.
Schneider, K. A., & Li, F. (Updated 10/12/2004). Li-Fraumeni syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997–2006. Available at http://www.genetests.org. Accessed January 17, 2005.
Smith, D. H., Quaid, K. A., Dworkin, R. B., Gramelspacher, G. P., Granbois, J. A., & Vance, G. H. (1998). Guideline V: Confidentiality. In Early Warning: Cases and ethical guidance for presymptomatic testing in genetic diseases. (pp. 144–148) Bloomington, Indiana: Indiana University Press.
Suthers, G. K., Armstrong, J., McCormack, J., and Trott, D. (2005). Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet, (epub, in press).
Trepanier, A., Ahrens, M., McKinnon, W., Peters, J., Stopfer, J., Campbell Grumet, S., et al. (2004). Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors. J Genet Counsel, 13, 83–114.
United States Department of Health and Human Services. Healthcare Insurance Portability and Accountability Act of 1996 and Amendments. 164.512(j). Available at: http://www.hhs.gov/ocr/hipaa Accessed on-line on January 17, 2005.
Vasen, H. F., Wijnen, J. T., Menko, F. H., Kleibeuker, J. H., Taal, B. G., Griffioen, G., et al. (1996). Cancer risk in families with hereditary nonpoyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology, 110, 1020–1027.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Schneider, K.A., Chittenden, A.B., Branda, K.J. et al. Ethical Issues in Cancer Genetics: 1) Whose Information Is It?. J Genet Counsel 15, 491–503 (2006). https://doi.org/10.1007/s10897-006-9053-4
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-006-9053-4