Living with genetic test results for hereditary breast and ovarian cancer

PURPOSE: To examine adaptation by nonsymptomatic individuals who knew the results of a genetic test for hereditary breast and ovarian cancer (HBOC) for at least 4 years. DESIGN: Longitudinal grounded theory study. METHODS: Follow-up interviews after a 3- to 4-year interval were conducted by telephone or e-mail with seven asymptomatic participants originally recruited for an earlier study of genetic testing experiences. A total of 14 interviews, 2 for each participant were conducted. Conceptual analysis on these 14 interviews focused on impact on daily life and health behavior decisions made in the intervening years. FINDINGS: Participants described the impact of the result and adaptations made in relationships, sexuality, outlook, and plans for the future. Participants accepted recommended surveillance and preventative measures to maximize a healthy lifestyle and reported both the benefits of knowing their mutation status as well as challenges they had encountered since testing. CONCLUSIONS: Adaptation to living with genetic test results indicating a disease-related mutation is an ongoing process of balancing the knowledge of risk with living a normal life. Over time, awareness of genetic risk does not appear to diminish. CLINICAL RELEVANCE: Positive and negative long-term consequences of genetic testing for hereditary breast or ovarian cancer may influence many aspects of the personal lives and health care decisions of those tested.