Development of a Decision Aid for Unaffected BRCA Mutation Carriers

Purpose: Deleterious BRCA mutations confer high risks for developing breast and ovarian cancer (Chen & Parmigiani, 2007; Mavaddat, et al., 2013). For healthy women, diagnosis of a mutation is associated with emotional trauma, fear, and a sense of urgency to make health protective decisions. Cancer risk management decision making support needs are exigent and ongoing throughout the decision making process. Women depict the process as a life journey (Jabaley Leonarczyk & Mawn, 2015). Priorities are survival, reducing the risk for cancer development, and maximizing quality of life (Stan et al., 2013). Making decisions necessitates a complex analysis of clinical variables, individual characteristics, and personal preferences. As emerging research elucidates the issues affecting cancer risk management decision making for BRCA+ women, guidelines evolve. Despite the rapid evolution of knowledge, evidence clearly supports risk management intervention. Primary health care providers, particularly those practicing in rural areas, lack resources for this population. Care may be fragmented, and specialists often view BRCA+ women through the lens of their specialty, neglecting the comprehensive approach needed (Jabaley Leonarczyk & Mawn, 2015).

Current decision support resources have various limitations. Clinical guidelines available online are not amenable to general population use, requiring a post graduate reading comprehension level and specialized knowledge in genomics and medicine (NCCN, 2016; Petrucelli, Daly, & Feldman, 2013; Schackmann, Munoz, Mills, Plevritis, & Kurian, 2013). In many studies, samples include both affected and unaffected mutation carriers, making it difficult to differentiate issues unique to each of these populations (Culver, et al., 2012; Llort, et al., 2015). Some resources do not address all options available to unaffected carriers (Metcalfe et al., 2007), and others exclude psychosocial issues impacting the decisional process (Petrucelli, Daly, & Feldman, 2013; Schackmann, Munoz, Mills, Plevritis, & Kurian, 2013).

The purpose of this study was to develop an evidence-based, comprehensive decision aid for women who are unaffected BRCA mutation carriers. Specific aims were to develop an aid based on decisional theory; consistent with internationally accepted clinical guidelines; at a reading level suitable for general population use; and to conduct an analysis of the aid.

Methods: The Ottawa Decision Support Framework (O’Connor, 2006) guided the development of the decision aid. According to the method recommended by Coulter, et al. (2013), the decision aid was developed by a steering committee and evaluated by twenty-two participants; seven experts and fifteen end users. Experts were genetic counselors and advanced practice nurses specializing in cancer genomics. End users were unaffected BRCA mutation carriers, recruited from the Facing our Risk of Cancer Empowered (FORCE), a support group for those with hereditary breast and ovarian cancer syndrome (HBOC). Quantitative and qualitative data were collected by survey.

Results: Expert reviewers were genetic counselors specializing in genetic cancer risk and advanced practice nurses specializing in cancer genomics. All were women. End user participants were all Caucasian women; all reported some level of college education; fifty percent reported a BRCA1 and fifty percent reported a BRCA2 mutation. The mean age of participants was 48.5 years; with an age range of 33-62. The mean time since receiving a positive BRCA mutation testing result was 5.2 years, with a range of 1-13 years. Results of the BRCA Decision Aid evaluation by expert reviewers revealed mean scores of 3.8 or higher on a four point likert scale from poor to excellent for organization, clarity, usefulness, comprehensiveness, and ease of understanding; and a mean score of 4.0 on a four point likert scale from not relevant to highly relevant for all sections of the decision aid. Results of the BRCA Decision Aid evaluation by end user reviewers revealed mean scores of 3.44 or higher on a four point likert scale from poor to excellent for organization, clarity, usefulness, comprehensiveness, and ease of understanding; and mean scores of 3.43 or higher on a four point likert scale from not relevant to highly relevant for all sections of the decision aid. Qualitative data indicated an increase in knowledge among end users reviewing the aid and the acute need for the tool in clinical practice among both experts and end users.

Conclusions: Quantitative findings from this study suggest that the decision aid is well-organized, clear, comprehensive, and highly relevant to the cancer risk management decision making experience of unaffected BRCA+ women. Qualitative findings suggest that the decision aid is needed in practice and that it increases knowledge among end users. Through use of the decision aid with patients, nurses have a means of improving the quality and integration of care for unaffected BRCA+ women by guiding and coaching, clarifying values, and monitoring and facilitating progress in the cancer risk management decision making process. The aid prompts consideration of the unique values, characteristics and preferences of each BRCA+ woman and supports active collaboration of all members of the interdisciplinary team caring for unaffected mutation carriers.