Involvement and Influence of Healthcare Providers, Family Members, and Other Mutation Carriers in the Cancer Risk Management Decision-Making Process of BRCA1 and BRCA2 Mutation Carriers
Deciding between increased cancer screening or prophylactic surgery and the timing of such procedures can be a difficult and complex process for women with BRCA mutations. There are gaps in our understanding of involvement of others in the decision-making process for women with BRCA mutations. This study evaluated the management decision-making process of women with BRCA mutations, focusing on the involvement of others. Grounded theory was used to analyze and code risk management decision-making information from interviews with 20 BRCA mutation carriers. Unaffected at-risk participants with a BRCA mutation, those under age 40, and those with no children described having a difficult time making risk management decisions. Physicians were an integral part of the decision-making process by providing decisional support and management recommendations. Family members and other mutation carriers filled similar yet distinct roles by providing experiential information as well as decisional and emotional support for carriers. Participants described genetic counselors as short-term providers of risk information and management recommendations. The study findings suggest that unaffected at-risk women, women under 40, and those who do not have children may benefit from additional support and information during the decision-making process. Genetic counselors are well trained to help women through this process and connect them with resources, and may be under-utilized in long-term follow-up for women with a BRCA mutation.
KeywordsCancer risk management Decision-making HBOC BRCA1 BRCA2 Genetic counselor
This research was conducted as part of Athena Puski’s genetic counseling training. We thank Jessica Bachman and Phokeng Dailey for their assistance in coding and data collection.
The content is solely the responsibility of the authors and does not necessarily reflect the official views of the NCATS or the National Institutes of Health.
Compliance with Ethical Standards
Conflict of Interest
Athena Puski, Shelly Hovick, and Amanda Ewart Toland declare that they have no conflict of interest. Leigha Senter is a consultant for AstraZeneca and received a speaker honorarium from Ambry Genetics.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
- Accreditation Council for Genetic Counseling (2015). Practice-based competencies for genetic counselors. http://www.gceducation.org/Documents/ACGC%20Core%20Competencies%20Brochure_15_Web.pdf
- Bancroft, E. K., Lock, I., Arden-Jones, A., D'Mello, L., McReynolds, K., Lennard, F., et al. (2010). The carrier clinic: an evaluation of a novel clinic dedicated to follow-up of BRCA1 and BRCA2 carriers-implications for oncogenetics practice. Journal of Medical Genetics, 47(7), 486–491.CrossRefPubMedGoogle Scholar
- Chai, X., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., Garber, J. E., Neuhausen, S. L., Matloff, E., Eeles, R., Tung, N., Weitzel, J. N., Couch, F. J., Hulick, P. J., Ganz, P. A., Daly, M. B., Olopade, O. I., Tomlinson, G., Blum, J. L., Domchek, S. M., Chen, J., & Rebbeck, T. R. (2014). Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers. Breast Cancer Research and Treatment, 148(2), 397–406. https://doi.org/10.1007/s10549-014-3134-0.CrossRefPubMedCentralPubMedGoogle Scholar
- Flippo-Morton, T., Walsh, K., Chambers, K., Amacker-North, L., White, B., Sarantou, T., Boselli, D., & White, R. (2015). Surgical decision making in the BRCA-positive population: Institutional experience and comparison with recent literature. The Breast Journal, 22(1), 35–44. https://doi.org/10.1111/tbj.12521.CrossRefPubMedGoogle Scholar
- Gahm, J., Wickman, M., & Brandberg, Y. (2010). Bilateral prophylactic mastectomy in women with inherited risk of breast cancer—prevalence of pain and discomfort, impact on sexuality, quality of life and feelings of regret two years after surgery. The Breast, 19(6), 462–469. https://doi.org/10.1016/j.breast.2010.05.003.CrossRefPubMedGoogle Scholar
- Hamilton, R., Williams, J. K., Bowers, B. J., & Calzone, K. (2009). Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 18(2), 147–159. https://doi.org/10.1007/s10897-008-9200-1.CrossRefPubMedGoogle Scholar
- Hoffman, R. M., Elmore, J. G., Fairfield, K. M., Gerstein, B. S., Levin, C. A., & Pignone, M. P. (2014). Lack of shared decision making in cancer screening discussions: results from a national survey. American Journal of Preventive Medicine, 47(3), 251–259. https://doi.org/10.1016/j.amepre.2014.04.011.CrossRefPubMedGoogle Scholar
- Hovick, S. R., Yamasaki, J. S., Burton-Chase, A. M., & Peterson, S. K. (2015). Patterns of family health history communication among older African American adults. Journal of Health Communication, 20(1), 80–87. https://doi.org/10.1080/10810730.2014.908984.
- Howard, A. F., Balneaves, L. G., Bottorff, J. L., & Rodney, P. (2011). Preserving the self: the process of decision making about hereditary breast cancer and ovarian cancer risk reduction. Qualitative Health Research, 21(4), 502–519. https://doi.org/10.1177/1049732310387798.CrossRefPubMedGoogle Scholar
- Josephson, U., Wickman, M., & Sandelin, K. (2000). Initial experiences of women from hereditary breast cancer families after bilateral prophylactic mastectomy: a retrospective study. European Journal of Surgical Oncology (EJSO), 26(4), 351–356. https://doi.org/10.1053/ejso.1999.0897.CrossRefGoogle Scholar
- Klitzman, R., & Chung, W. (2010). The process of deciding about prophylactic surgery for breast and ovarian cancer: patient questions, uncertainties, and communication. American Journal of Medical Genetics. Part A, 152A(1), 52–66. https://doi.org/10.1002/ajmg.a.33068.CrossRefPubMedCentralPubMedGoogle Scholar
- Lautenbach, D. M., Christensen, K. D., Sparks, J. A., & Green, R. C. (2013). Communicating genetic risk information for common disorders in the era of genomic medicine. Annual Review of Genomics and Human Genetics, 14, 491–513. https://doi.org/10.1146/annurev-genom-092010-110722.CrossRefPubMedGoogle Scholar
- Metcalfe, K. A., Birenbaum-Carmeli, D., Lubinski, J., Gronwald, J., Lynch, H., Moller, P., & Hereditary Breast Cancer Clinical Study Group. (2008). International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers. International Journal of Cancer, 122(9), 2017–2022. https://doi.org/10.1002/ijc.23340.CrossRefPubMedCentralPubMedGoogle Scholar
- Metcalfe, K. A., Dennis, C. L., Poll, A., Armel, S., Demsky, R., Carlsson, L., et al. (2017). Effect of decision aid for breast cancer prevention on decisional conflict in women with BRCA1 or BRCA2 mutation: a multisite, randomized, controlled trial. Genetics in Medicine, 19, 330–336. https://doi.org/10.1038/gim.2016.108.CrossRefPubMedGoogle Scholar
- National Comprehensive Cancer Network (2016). Genetic/familial high-risk assessment: breast and ovarian. National Comprehensive Cancer Network.Google Scholar
- Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., Strecker, M. N., & Williams, J. L. (2006). A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. Journal of Genetic Counseling, 15(2), 77–83. https://doi.org/10.1007/s10897-005-9014-3.CrossRefPubMedGoogle Scholar
- Scheuer, L., Kauff, N., Robson, M., Kelly, B., Barakat, R., Satagopan, J., & Offit, K. (2002). Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology, 20(5), 1260–1268.CrossRefGoogle Scholar
- Strauss, A., & Corbett, J. (1994). Grounded theory methodology: an overview. In N. K. Denzin & Y. S. Lincoln (Eds.), Handbook of qualitative research (pp. 273–285). Thousand Oaks: Sage.Google Scholar
- Westin, S. N., Sun, C. C., Lu, K. H., Schmeler, K. M., Soliman, P. T., Lacour, R. A., & Bodurka, D. C. (2011). Satisfaction with ovarian carcinoma risk-reduction strategies among women at high risk for breast and ovarian carcinoma. Cancer, 117(12), 2659–2667. https://doi.org/10.1002/cncr.25820.CrossRefPubMedGoogle Scholar