Women who were seen through our institution's Clinical Cancer Genetics Program and underwent genetic testing of deleterious BRCA 1 or 2 mutations were surveyed regarding their perceptions of different screening and risk-reduction strategies. We evaluated the responses by comparing the women who had tested positive or negative and their opinions regarding these different strategies. Women who tested positive for a deleterious BRCA mutation tended to not have as much difficulty with screening or minding the discomfort of mammography. There was no significant difference in SBEs. However, opinions regarding PMs and the ultimate choice to undergo PM were dependent upon their genetic testing results.
Of the women that were BRCA+, PMs were viewed as the most effective means of decreasing ultimate risk and worry of breast cancer. The majority of women who agreed with these viewpoints went on to ultimately choose a PM. Previous studies have looked at smaller numbers of patients and described worry as a major factor in ultimate decision making in high risk women.20
Additionally, Scheuer, et al. have shown the importance of genetic counseling in promoting increased surveillance, earlier detection and even surgical intervention in mutation carriers.21
Genetic counseling often involves a detailed discussion of genetic test results (including positive, negative and uncertain results), cancer family history, and cancer risks and risk reduction options associated with each test result. Patients cite each of these points of discussion as influential factors in their risk reduction surgery decisions, including PM.22
Furthermore, although breast cancer risk reduction decision aids have proven to be useful in reducing patients' decisional conflict regarding their risk reduction options, they have not been shown to be effective in the absence of counseling, further reinforcing the importance of genetic counseling in the decision making process.23
Other studies have shown that when high-risk women undergo intensive screening they may not tend to want to undergo PM.24
Our study further evaluates these opinions regarding PMs in this patient population and expands the underlying perceptions of this surgery.
By acknowledging that although women are willing to undergo SBEs and mammography as well as with the recent American Cancer Society MRI screening guidelines,25
prophylactic surgeries are still significantly viewed in this patient population as the most effective means of decreasing risk and worry. Interestingly, the majority of both BRCA+ and BRCA- women did not feel that PMs were either too drastic, too scary or too disfiguring which is often a major concern of caregivers when counseling and providing this intervention as some analyses have shown mixed satisfaction to PM and reconstruction in high-risk poulations.20
However, more recent studies have shown similar quality of life between women who choose to undergo PM compared to women who do not, and overall satisfaction with the decision to undergo PM.26-29
This data in addition to the data presented in the current study suggest that caregivers may be overestimating patients' negative feelings regarding PM.
Limitations of our analysis include that this is a retrospective questionnaire and women who tended to return the questionnaire may have had stronger opinions either positively or negatively. The women were also answering the questionnaire at different time points after their screening or PM decision had been made or completed. Each of the women also underwent genetic counseling as per our institutional guidelines and may be influenced by the information provided in the counseling session. A prospective questionnaire both pre and post genetic testing may show more clearly the impact of genetic testing and results disclosure on these risk-reducing strategies.
Our analysis provides insight into the decision making regarding risk-reduction strategies in BRCA+ and BRCA- patients. Patients with a deleterious BRCA mutation may find PM as the only way to effectively reduce their worry. Health care providers and genetic counselors must take this in to account when assessing a woman's needs at the time of genetic testing and results disclosure.