The Impact of BRCA1/2 Mutation Testing on Patients and Family Members

Abstract

Objectives: To examine the effect of genetic testing on anxiety, follow-up and family members.Methods: Survey among BRCA mutation carriers and non-carriers, regarding testing results, anxiety and healthcare behavior.Results: Thirty-three (8%) of 428 women screened were carriers. About half of non-carriers were relieved following negative results; 91% reported no change in follow-up. Only 4% of non-carrier family members were tested; half of carriers' first-degree relatives were questioned as well. Most carriers (81%) underwent prophylactic oophorectomy and 16% mastectomy.Conclusions: Knowledge of carrier status led to increased screening among relatives, with implications for earlier detection and treatment. Non-carrier status created relief in many patients. Primary care physicians should increase awareness of genetic testing impliments.