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

Abstract

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.

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Acknowledgements

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.

Disclaimer

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.

Funding

This project was funded in part by Nationwide Children’s Hospital, grant P30 CA016058 from the National Cancer Institute, Bethesda, MD and by Award Number UL1TR001070 from the National Center for Advancing Translational Sciences (NCATS).

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Correspondence to Athena Puski.

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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.

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No animal studies were carried out by the authors for this article.

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Puski, A., Hovick, S., Senter, L. et al. 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. J Genet Counsel 27, 1291–1301 (2018). https://doi.org/10.1007/s10897-018-0254-4

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Keywords

  • Cancer risk management
  • Decision-making
  • HBOC
  • BRCA1
  • BRCA2
  • Genetic counselor