The ethics researchers intend to continue their research on the observation of the diversity of procedures for informing relatives in Europe, in the field of rare diseases. The starting point of their work lies in the specificity of genetic information which contains a familial character insofar as the members of the same family share a part of their genome in common, and that certain genetic diseases are hereditary. Thus, when a rare genetic disease is diagnosed in a person (called the "source person"), this information can be particularly useful to related persons, who can, if they wish, be screened early, avoid diagnostic wandering and benefit from preventive or even curative measures.
Given the psychological and medical consequences that a delay in diagnosis can have, increasing importance is being attached to informing family members "at risk" of having the same genetic mutation, in the event of a diagnosis of a rare disease. However, this procedure of Genetic Familial Information (GFI) confronts the "source" person, his relatives, medical staff and lawyers, with new medical, ethical and legal dilemmas. A currently funded research project will provide a better understanding of family interactions around a rare genetic disease. It will be part of the human sciences research project "IGPrare" - on genetic information to relatives (AAP financed by the Agence de la biomédecine (30 000 €). Investigations already started during the previous contract will be continued in different European countries.