A systematic review of psycho-social interventions for individuals with a BRCA1/2 pathogenic variant

Women with a pathogenic variant in BRCA1/2 genes have up to an 87% lifetime risk of breast cancer and up to a 68% lifetime risk for ovarian cancer. Common risk-reducing measures include prophylactic surgeries or pharmacological approaches, such as chemoprevention. Psycho-social issues can arise due to this increased risk, often resulting in heightened distress or anxiety. This review examines the efficacy of interventions aimed at improving psychological adjustment in individuals with a pathogenic variant in BRCA1/2. A Public and Patient Involvement (PPI) Panel of six individuals with a BRCA1/2 pathogenic variant provided input on the terminology used and dissemination of the review. Interventions assessing psychological measures in BRCA1/2 pathogenic variant carriers, published in English, were considered eligible for inclusion. A systematic search strategy was carried out on OVID, EBSCO, Cochrane Library, PubMed, Web of Science Core Collections, and Scopus. Two independent reviewers conducted screening, data extraction, risk of bias assessments, and theory coding. Findings were reported through narrative synthesis. Of the 1,024 results from searches, fifteen interventions were eligible. Nine of these were randomized controlled trials, six were quasi-experimental. There was heterogeneity in intervention design, with limited evidence of improvement upon psychological outcome measures. No study was rated as being low risk for bias. Five studies obtained the highest level of risk for bias, the majority of issues arising from problematic outcome measurement. No single study met all criteria on the Theory Coding Scheme, with five studies mentioning a theoretical aspect to intervention design, of which three employed a middle-range theory only. Some studies demonstrated a longitudinal impact on outcomes, however, there is insufficient evidence to draw broad conclusions from this. Further research is needed to better develop interventions to support those with a pathogenic variant in BRCA1/2 throughout their coping experience.