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.

Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study

“…Men and individuals who did not have prior experience with genetic testing were also more likely to be ambivalent about their decision to participate. Consistent with findings by Puski and colleagues, participants who discussed their interest in genomic screening with a family member or friend were less likely to report decisional ambivalence 50. These data suggest that pretest genetic counselling resources and other decisional support tools might be prioritised for a subgroup of patients with specific risk factors related to the quality of their decision-making.…”

Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review

“…The distribution of MMAT-v2018 scores was generally high across study designs, with 22 out of 30 (73.3%) studies meeting 100% of quality criteria and eight records having 80% of quality criteria met (see Supplementary Table S1). All qualitative studies (n = 5) [14,56,[59][60][61] obtained the highest possible score, which was also achieved in 3 out of 7 (42.9%) quantitative non-randomized studies [62][63][64] and 13 out of 17 (76.5%) records adopting a quantitative descriptive method [55,[65][66][67][68][69][70][71][72][73][74][75][76]. One mixed-method study of the two included in this review (50%) also met 100% of the quality criteria [77].…”

“…However, one study measured long-term adjustment of up to 24 months after receiving genetic testing results [72]. Five papers employed a qualitative research method conducted on pathogenic variant carriers and their family members [14,56,[59][60][61]. A summary of the characteristics of selected studies can be found in Table 1, while a more complete description of selected records can be consulted in Supplementary Table S2.…”

“…However, although preventing cancer onset is crucial for pathogenic variant carriers, knowing about future cancer risk, deciding on the personal prevention plan, and adapting to risk-reduction measures pose significant psychological challenges [7][8][9][10][11]. In fact, deciding if, how, and when to undergo the invasive medical procedures usually reserved for these situations [4,12] may not only elicit distress in the pathogenic variant carriers [13] but also in their family members [14].…”

“…Not only as it has the potential to impact the health of family members who may also be carrying the pathogenic variant, but it may also affect family members' relationships and a couple's reproductive decisions [16,17]. In addition, genetic testing uptake is usually carried out in a cascading way [18], which often means that the new pathogenic variant carriers vicariously experience the outcome of their carrier relatives' decisions [14]. In this sense, dealing with the uncertainty of possible future losses without abdicating from important life cycle goals (e.g., having children) requires pathogenic variant carriers and their family members to develop great flexibility in an inter-related adjustment process [19,20].…”