Genetic diseases and information to relatives: practical and ethical issues for professionals after introduction of a legal framework in France.

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.

Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals' Perceptions of Ethical and Professional Issues in France.

The benefit of disclosing test results to next of kin is to improve prognosis and-in some cases-even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.