Psychosocial Issues in Genetic Testing for Breast/Ovarian Cancer

Approximately 10% of all breast cancers are due to hereditary factors, with the majority caused by mutations in two autosomal dominant breast cancer genes, BRCA1 and BRCA2. Mutations in these genes are associated with cumulative risks of breast cancer of 72% in BRCA1 mutation carriers and 69% in BRCA2 mutation carriers by age 80. Mutation carriers who develop breast cancer have elevated risk for contralateral breast cancer. BRCA1/2 mutations also place women at elevated risk for ovarian cancer. Genetic counseling and testing are available to individuals, with or without cancer, to inform health-related decision-making. While genetic knowledge offers opportunities for prevention, including prophylactic risk-reducing surgery, a number of psychological and social challenges have been identified in the BRCA1/2 population. This chapter provides a broad overview of seminal research on the psychosocial impacts of genetic testing in BRCA1/2 with the goal of helping readers better identify, evaluate, and treat psychosocial challenges stemming from the process of genetic testing. Identifiable risk factors for psychosocial distress during the genetic counseling process are summarized. The chapter points toward key psychometric instruments designed to support psychosocial screening in cancer genetic populations. Further, a summary of intervention strategies to support psychosocial adaptation to genetic testing is provided.