文摘
Modern high throughput sequencing technologies are leading to the identification of new risk genes and an increasing demand for genetic counselling and testing; therefore more and more physicians from all subspecialties are faced with questions concerning genetic risks, interpretation of genetic test results and potential clinical consequences. Genetic counselling should support individuals with increased genetic risks considering medical, psychological and social implications. Recent results of our second opinion concept for BRCA1 and BRCA2 gene mutation carriers before prophylactic mastectomy show a significant lack of risk and genetic literacy on the part of the patients and the medical counsellors. Structured education programs and decision aids should be developed to close these gaps and to enable affected individuals to come to a lifelong acceptable decision-making on drastic radical preventive measures.