Psychosocial impact of testing (by linkage) for the BRCA1 breast cancer gene: An investigation of two families in the research setting

Data are reported on an investigation of the impact of genetic testing in two families with a >95% probability of linkage to the BRCA1 Breast/Ovarian cancer predispostion gene. Levels of psychological morbidity and cancer specific concerns in this highly selected group were not unusually high. At least half of the sample had no specific prior expectation regarding their gene carrier status. However, there was an indication that an unanticipated unfavourable genetic test result can cause subsequent psychological distress. Uptake of testing in this research sample was 41% overall and was higher (59%) in females. This is likely to have important resource implications if this level of uptake is found when genetic testing is extended outside such research cohorts.