Abstract
Health professionals have a role to play in assisting patients to communicate genetic information to their relatives. In France, a specific unique legal framework has been implemented concerning this issue. We questioned professionals about their practice and how it has evolved in this new frame. The French law has opted to lay responsibility for disclosure on the person concerned by a positive test result, without totally excluding some responsibility on the part of the professionals involved, in the information to be disclosed and in the transmission of the information if a patient refuses to do it themselves (indirect disclosure). We designed and validated an online survey to be sent out to healthcare professionals to explore their practice and how they went about implementing the legal provisions. We also sought to determine how healthcare professionals dealt with a patient's refusal to disclose information to their relatives, and whether the legal framework was helpful. We carried out a statistical analysis of the responses to questionnaires to interpret the results by professional category, field of medicine and genetic disorder. The results show that professionals agreed on the relevance of disclosure to relatives. However, they show a range of practices and varying representations of the genetic issue in the framework of disclosure to relatives according to their medical field, their role in the health system and their own interpretations. They indicated a lack of resources, raised some ethical issues and put forward some arguments against contacting relatives themselves.