Non-invasive Prenatal Diagnosis for BRCA Mutations – a Qualitative Pilot Study of Health Professionals’ Views
STUDY QUESTION How do young women, who were identified as carrying a BRCA gene mutation before they had children, approach reproductive decision-making and what are their attitudes towards reproductive genetic testing? SUMMARY ANSWER Reproductive decision-making within the context of cancer risk is complex and influenced by personal experiences of cancer. Younger women were not concerned with reproductive decision-making at the time of their genetic test; however, the impact on subsequent reproductive decision-making was considerable and left them with unanticipated dilemmas, such as having children who would be at risk of inheriting cancer predisposition, timing risk-reducing surgery and changing perceptions of responsibility. WHAT IS KNOWN ALREADY Individuals carrying gene mutations predisposing to hereditary breast/ovarian cancer have concerns about passing on the gene mutation to children. STUDY DESIGN, SIZE, DURATION Qualitative methodology and thematic analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS Data were collected through semi-structured interviews with 25 women aged 18-45 who had received a positive result for a BRCA1 or BRCA2 gene mutation while childless. MAIN RESULTS AND THE ROLE OF CHANCE Analysis revealed four central themes: (i) the impact of cancer on reproductive decision-making; (ii) motivation for genetic testing; (iii) risk management and timing of planning children; and (iv) optimism for future medical advancements. LIMITATIONS, REASONS FOR CAUTION This study explores the views of female BRCA carriers. Further research should explore the views of couples, men, and include samples with greater ethnic and social diversity. WIDER IMPLICATIONS OF THE FINDINGS This evidence highlights the need for reproductive decision-making to be addressed at the time of pretest genetic counselling. More information should be provided on reproductive options as well as counselling/support to guide women's reproductive decision-making and prenatal testing options at the time they undertake genetic testing. STUDY FUNDING/COMPETING INTEREST(S) This research was supported by Cancer Research UK (Number C1226 A7920) and NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and RMH. The authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER Not applicable.