Experiences of Women Who Underwent Predictive BRCA 1/2 Mutation Testing Before the Age of 30

摘要: This qualitative interview study focuses on the experiences of a sample British female BRCA 1/2 carriers who had predictive testing before age 30, which is minimum for breast screening in UK. Following appropriate informed consent procedures participants were recruited through Cancer Genetics Service Wales. Semi-structured interviews conducted face-to-face with seven participants, transcribed full and analyzed using thematic analysis. The motives perceived advantages described by similar to those identified previous studies older such as increased awareness knowledge feeling more control. However some disadvantages specific younger women, including pressured make important life decisions earlier than they would have liked, about family planning risk reducing surgery. Participants also reported abandoned or forgotten because lack ongoing clinical contact, “stuck waiting” begin. However, none felt that these reason regret having testing. Findings this small suggest can positive outcomes young women even though may be unable access interventions screening. it helpful encourage during pre-test counseling explore choices face. These could benefit from support follow up interaction healthcare professionals.