Understanding the Needs of Young Women Regarding Breast Cancer Risk Assessment and Genetic Testing: Convergence and Divergence among Patient-Counselor Perceptions and the Promise of Peer Support.

Chalanda Evans,Suzanne O’Neill,Beth Peshkin,Kantoniony Rabemananjara,Rebekah Hamilton,Kenneth Tercyak,Claudine Isaacs

doi:10.3390/healthcare4030035

Abstract

Young women from hereditary breast and ovarian cancer (HBOC) families face a series of medical decisions regarding their cancer risk management and integrating this information into their life planning. This presents unique medical and psychosocial challenges that exist without comprehensive intervention. To help lay the groundwork for intervention, we conducted a qualitative study among young women from HBOC families (N = 12; Mean age = 22) and cancer genetic counselors (N = 12) to explicate domains most critical to caring for this population. Women and counselors were interviewed by telephone. The predominant interview themes included preventative care planning and risk management, decision making around the pros and cons of cancer risk assessment, medical management, and psychosocial stresses experienced. Young women endorsed psychosocial stress significantly more frequently than did counselors. Both groups noted the short- and long-term decision making challenges and the support and conflict engendered among familial relationships. Our results suggest young women value the support they receive from their families and their genetic counselors, but additional, external supports are needed to facilitate adaptation to HBOC risk. In feedback interviews focused on intervention planning with a subset of these young women (N = 9), they endorsed the predominant interview themes discovered as important intervention content, a structure that would balance discussion of medical information and psychosocial skill-building that could be tailored to the young women’s needs, and delivery by trained peers familiar with HBOC risk.

Highlights

Most hereditary breast and ovarian cancer (HBOC) is attributable to a combination of family history and BRCA1 and BRCA2 (BRCA1/2) mutations, with the latter conferring a 40%–75% lifetime disease risk [1,2]
breast cancer risk assessment/genetic testing (BCRA/GT) for familial mutations provides definitive positive or true negative risk information [8]. Depending on their age and preferences, carriers can manage their HBOC risk through surveillance and/or surgical interventions that greatly reduce the risk of breast and ovarian cancer mortality [9]
BCRA/GT presents young women with the opportunity for cancer risk reduction and adopt a proactive stance to life planning that was largely unavailable to previous generations

Summary

Introduction

Most hereditary breast and ovarian cancer (HBOC) is attributable to a combination of family history and BRCA1 and BRCA2 (BRCA1/2) mutations, with the latter conferring a 40%–75% lifetime disease risk [1,2]. Many women and men from HBOC families will undergo breast cancer risk assessment/genetic testing (BCRA/GT) with a health care provider to learn their carrier status [3,4,5]. Oftentimes, these carriers have young, first-degree female relatives (i.e., sisters, daughters) at 50% risk of inheriting the familial mutation and who are informed of HBOC risk in the family. BCRA/GT for familial mutations provides definitive positive or true negative risk information [8]. Depending on their age and preferences, carriers can manage their HBOC risk through surveillance and/or surgical interventions that greatly reduce the risk of breast and ovarian cancer mortality [9]. BCRA/GT presents young women with the opportunity for cancer risk reduction and adopt a proactive stance to life planning that was largely unavailable to previous generations

Methods

Results

Conclusion