Helping Patients Understand and Cope with BRCA Mutations

Individuals carrying germline mutations in BRCA1/2 have unique psychosocial and educational needs that must be met to ensure informed clinical decision-making. In this review, we highlight the strategies used in clinical practice to support patients' needs as well as currently available pre- and post-disclosure support interventions.

Clinical risk communication is complicated by the uncertainty associated with gene penetrance, inconclusive results, variable effectiveness of surgical and screening interventions, and inadequate awareness of clinical genetics. Interventions to support patients' psychosocial needs, and strategies for effective and scalable clinical risk communication are in routine use and largely effective at meeting patients' needs. Research is underway to develop newer supportive resources; however, the inadequate representation of all mutation carriers persists. Effective clinical risk communication strategies, decision support aids, written educational materials, and supportive psychosocial tools can together have a large impact on meeting BRCA carriers' supportive needs.