Genetic risk. Under French law, when a genetic abnormality can cause serious symptoms for which preventive measures exist, potentially affected family members must be informed of the risk, a process known as ‘family disclosure of genetic risk’ (FDGR). This collaborative study, involving patients, healthcare professionals and researchers in the humanities and social sciences, analysed the experience of a large cohort of patients or relatives affected by various rare diseases, with the aim of identifying the factors that facilitate or hinder FDGR. Four main barriers were identified and warrant consideration: an incomplete understanding of the information to be disclosed and/or a lack of motivation to disclose it, communication difficulties within the family, and patients’ lack of awareness that healthcare professionals can manage the disclosure process when direct communication may cause distress.

Scientific abstract: Difficulties of sharing information about genetic risks, for medical purposes, with family members are well known to patients with rare genetic diseases and healthcare professionals. To understand the mechanisms underlying the difficulties associated with the family disclosure of genetic risk (FDGR) process, an online questionnaire survey was designed in collaboration with French patient associations, healthcare professionals and academics. 595 patients with various rare diseases, or their relatives, who had an experience of FDGR, reported 685 FDGR events. Using hierarchical clustering on the principal components (HCPC) of a multiple correspondence analysis (MCA), these 685 experiences were divided into three clusters, representing 347 (Cluster 1 50.7%), 175 (Cluster 2 25.5%) and 163 (Cluster 3 23.8%) FDGR events, respectively. In cluster 1, the FDGR events described were considered generally satisfactory. In cluster 2 and cluster 3 (approximately 50% of FDGR), the FDGR events described were considered unsatisfactory, both in terms of information transmission and psychosocial damage, mainly due to a poor understanding of the information to be conveyed and/or low motivation, particularly in families experiencing relationship difficulties. However, other factors, such as certain characteristics of the disease or the type of healthcare professional involved in the process, do not appear to differ significantly between the three clusters. Our results, obtained through a collaborative approach, provide a basis for the collective development of tools (i) aimed at improving patients’ understanding of genetic information and their motivation to disclose it to family members, but if this proves impossible or too difficult, (ii) to delegate disclosure to healthcare professionals.

The authors: M Mathieu, B Saliba-Serre, S de Montgolfier, M Libany, A Altavilla, F Faurisson, P Malzac & IGPrare group

Published in European Journal of Human Genetics, 2026