Transmission des informations médicales et projet d'enfant : le conseil génétique dans le contexte du rétinoblastome et du cancer du sein et des ovaires dit héréditaire

Genetic counseling aims to provide information about the goals and the nature of genetic tests and about the implications of test results, notably for reproductive choices. Consequently, it is addressed to persons who wish to have children but are at risk of transmitting to them a genetic anomaly associated with severe disease. Depending on the pathology, prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) are options that can be discussed. The principle of non-directive genetic counseling underlies recommendations for good practice: the aim of genetic counseling is to help the couple to make its own free and informed decision. In this sense, it promotes the reproductive autonomy of the couples and protects their freedom of choice. However, these consultations are not the only place where questions regarding the prospect of having children are raised: at what moments in their medical itinerary do persons at risk of transmitting a genetic mutation to their offspring receive information that is relevant to reproductive decision-making? Moreover, the content of the information as well as the way in which they are conveyed have an impact on reproductive reflections and decisions. The results of a study based on interviews with persons who know they are at risk of transmitting to their offspring a genetic mutation associated with an increased risk of cancer reveal several impediments to reproductive autonomy.