{
  "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.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 37,
  "authors": [
    {
      "name": "Marion Mathieu"
    },
    {
      "name": "Bérengère Saliba-Serre"
    },
    {
      "name": "Sandrine de Montgolfier"
    },
    {
      "name": "Martine Libany"
    },
    {
      "name": "Annagrazia Altavilla"
    },
    {
      "name": "François Faurisson"
    },
    {
      "name": "Perrine Malzac"
    },
    {
      "name": "Claudie Baleydier"
    },
    {
      "name": "Michel Bonnaire"
    },
    {
      "name": "Amandine Boureau-Wirth"
    },
    {
      "name": "Paola de Carli"
    },
    {
      "name": "Catherine Dekeuwer"
    },
    {
      "name": "Valérie Depadt"
    },
    {
      "name": "Benjamin Derbez"
    },
    {
      "name": "Maryse Dien"
    },
    {
      "name": "Véronique Dujardin"
    },
    {
      "name": "Alain Geille"
    },
    {
      "name": "Brigitte Jarret"
    },
    {
      "name": "Sophie Julia"
    },
    {
      "name": "Julien Klein"
    },
    {
      "name": "Pierre Le Coz"
    },
    {
      "name": "Khadija Lahlou-Laforêt"
    },
    {
      "name": "Sylvain Leveille"
    },
    {
      "name": "Audrey Mallet"
    },
    {
      "name": "Isabelle Marchetti"
    },
    {
      "name": "Laetitia Marcucci"
    },
    {
      "name": "Karine Nguyen"
    },
    {
      "name": "Laurent Pasquier"
    },
    {
      "name": "Valérie Pelletier"
    },
    {
      "name": "Roger Picard"
    },
    {
      "name": "Brigitte Pineau"
    },
    {
      "name": "Cécile Rouzier"
    },
    {
      "name": "Raymond Souqui"
    },
    {
      "name": "Jean-Marc Tassain"
    },
    {
      "name": "Eva Toussaint"
    },
    {
      "name": "Vincent Tronel"
    },
    {
      "name": "Cécile Zordan"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6wt72adbm0tg0.bib",
  "cited_by": 0,
  "doi": "10.1038/s41431-026-02205-8",
  "fulltext_url": null,
  "id": "6wt72adbm0tg0",
  "issns": [
    "1018-4813",
    "1476-5438"
  ],
  "landing_url": "https://hal.science/hal-05761761v1",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "0.shs"
    ],
    [
      "openalex",
      "3600|Patient-Provider Communication in Healthcare"
    ]
  ],
  "openalex": "W7203947511",
  "pdf_url": "https://hal.science/hal-05761761/document",
  "pmcid": null,
  "pmid": "42629422",
  "published": "2026-08-21",
  "publisher": "Nature Publishing Group",
  "ris": "https://research.draconitic.com/paper/6wt72adbm0tg0.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:01Z",
      "native_id": "hal-05761761",
      "source": "hal",
      "url": "https://hal.science/hal-05761761v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "journal-openalex:1311|Genomics and Rare Diseases",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences",
  "title_text": "Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:01Z",
  "url": "https://research.draconitic.com/paper/6wt72adbm0tg0",
  "venue": "European Journal of Human Genetics",
  "versions": []
}