Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences
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.
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BibTeX
@article{mathieu2026family,
title = {{Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences}},
author = {Marion Mathieu and Bérengère Saliba-Serre and Sandrine de Montgolfier and Martine Libany and Annagrazia Altavilla and François Faurisson and Perrine Malzac and Claudie Baleydier and Michel Bonnaire and Amandine Boureau-Wirth and Paola de Carli and Catherine Dekeuwer and Valérie Depadt and Benjamin Derbez and Maryse Dien and Véronique Dujardin and Alain Geille and Brigitte Jarret and Sophie Julia and Julien Klein and Pierre Le Coz and Khadija Lahlou-Laforêt and Sylvain Leveille and Audrey Mallet and Isabelle Marchetti and Laetitia Marcucci and Karine Nguyen and Laurent Pasquier and Valérie Pelletier and Roger Picard and Brigitte Pineau and Cécile Rouzier and Raymond Souqui and Jean-Marc Tassain and Eva Toussaint and Vincent Tronel and Cécile Zordan},
journal = {European Journal of Human Genetics},
year = {2026},
month = aug,
doi = {10.1038/s41431-026-02205-8},
url = {https://hal.science/hal-05761761v1},
note = {CC BY-NC-ND 4.0},
}
RIS
TY - JOUR
TI - Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences
AU - Marion Mathieu
AU - Bérengère Saliba-Serre
AU - Sandrine de Montgolfier
AU - Martine Libany
AU - Annagrazia Altavilla
AU - François Faurisson
AU - Perrine Malzac
AU - Claudie Baleydier
AU - Michel Bonnaire
AU - Amandine Boureau-Wirth
AU - Paola de Carli
AU - Catherine Dekeuwer
AU - Valérie Depadt
AU - Benjamin Derbez
AU - Maryse Dien
AU - Véronique Dujardin
AU - Alain Geille
AU - Brigitte Jarret
AU - Sophie Julia
AU - Julien Klein
AU - Pierre Le Coz
AU - Khadija Lahlou-Laforêt
AU - Sylvain Leveille
AU - Audrey Mallet
AU - Isabelle Marchetti
AU - Laetitia Marcucci
AU - Karine Nguyen
AU - Laurent Pasquier
AU - Valérie Pelletier
AU - Roger Picard
AU - Brigitte Pineau
AU - Cécile Rouzier
AU - Raymond Souqui
AU - Jean-Marc Tassain
AU - Eva Toussaint
AU - Vincent Tronel
AU - Cécile Zordan
PY - 2026
DA - 2026/08/21
JO - European Journal of Human Genetics
DO - 10.1038/s41431-026-02205-8
UR - https://hal.science/hal-05761761v1
AB - 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.
SN - 1018-4813
SN - 1476-5438
ER -