Anne-Marie Brady

Information needs of women with BRCA mutations regarding cancer risk management and decision-making

Providing women who have tested positive for a pathogenic variant in BRCA1 or BRCA 2 relevant information can help them to make informed decisions about managing their cancer risk. However, there is a lack of targeted informational support for BRCA positive women specific to the Irish context. The objective of this study is to identify the information needs of women diagnosed with a pathogenic variant in BRCA1 or BRCA 2 regarding cancer risk management and decision-making. This is a descriptive qualitative study. Participants were recruited using purposive sampling and included women with a pathogenic variant in BRCA1 or BRCA2 without a history of breast or ovarian cancer. Two focus groups were held with women (n = 16) to enable them to generate ideas and understanding of their shared information needs. In addition, ten individual interviews were conducted to capture the additional perspectives of health care and relevant policy stakeholders. Interviews were analysed using inductive coding (Braun and Clarke, 2006), with NVivo software (Qsr international, 1999). Three main themes were identified, Cancer Risk Management, Receiving Information, and Implications to Health and Wellbeing. BRCA-positive women expressed a need for information about managing their cancer risk. They were particularly concerned with managing the impact of cancer risk-reducing interventions on their psychological and physical health, wellbeing, and family life. Many women felt they had to advocate for themselves to get treatment and receive information. Participants expressed a need for a comprehensive informational resource where all relevant information related to BRCA risk management could be accessed at a single location. This study suggests that women diagnosed with a pathogenic variant in BRCA1 or BRCA2 in Ireland need more accessible information about managing their cancer risk, and the impact of a BRCA diagnosis on their family, health and wellbeing. These results will be used to identify relevant content for developing an informational decision aid for Irish women.

Decision aids for female BRCA mutation carriers: a scoping review

Objectives Women who inherit a pathogenic BRCA1 or BRCA2 mutation are at substantially higher risk of developing breast and ovarian cancer than average. Several cancer risk management strategies exist to address this increased risk. Decisions about which strategies to choose are complex, personal and multifactorial for these women. Decision aids (DAs) are tools that assist patients in making health-related decisions. The aim of this scoping review was to map evidence relating to the development and testing of patient DAs for cancer unaffected BRCA mutation carriers. Design Scoping review conducted according to the Joanna Briggs Institute’s (JBI’s) scoping review methodological framework. Data sources MEDLINE, EMBASE, CINAHL, Web of Science. No restrictions applied for language or publication date. A manual search was also performed. Eligibility criteria for selecting studies Studies on DAs for cancer risk management designed for or applicable to women with a pathogenic BRCA1 or BRCA2 mutation who are unaffected by breast or ovarian cancer. Data extraction and synthesis Data were extracted using a form based on the JBI instrument for extracting details of studies’ characteristics and results. Data extraction was performed independently by two reviewers. Extracted data were tabulated. Results 32 evidence sources relating to development or testing of 21 DAs were included. Four DAs were developed exclusively for cancer unaffected BRCA mutation carriers. Of these, two covered all guideline recommended risk management strategies for this population though only one of these was readily available publicly in its full version. All studies investigating DA effectiveness reported a positive effect of the DA under investigation on at least one of the outcomes evaluated, however only six DAs were tested in randomised controlled trials. Conclusion This scoping review has mapped the landscape of the literature relating to developing and testing, DAs applicable to cancer unaffected BRCA mutation carriers.