Addressing psychosocial vulnerability in rare diseases: a call to action from a European expert consensus study
Year: 2025
Type: article
Abstract: BACKGROUND: Persons living with a rare disease (PLWRD) often encounter burdensome and stressful events that may severely affect their psychosocial vulnerability. There is an urgent need for psychosocial support in PLWRD. We aimed to reach consensus about the most prominent psychosocial needs in rare diseases and future research directions to develop adequate psychosocial support for rare diseases. METHODS: An adapted nominal group technique (NGT) session was conducted in Nijmegen (The Netherlands) with a European expert group of professionals working in the rare disease field. Seventeen participants from seven different European countries took part in the NGT session (seven researchers, two therapists, one patient representative, four clinicians/researchers, and three clinicians), and 23 participants took part in the overall workshop and contributed to this consensus statement. RESULTS: An initial list of 57 psychosocial needs was aligned with Pickers' theoretical framework of eight principles of care: patient-centredness, emotional support, access to care, information and education, partner and family involvement, respect and autonomy, care organisation, continuity of care, and physical comfort. For future research directions, six items remained with main focal points addressing international collaborations, inclusivity in rare diseases (patient representatives, ethnic minorities, and elderly), identifying common needs across rare diseases, and translating psychosocial models from common chronic conditions. CONCLUSIONS: A consensus meeting was organised that primarily addressed the psychosocial vulnerability in rare diseases. With the outcomes of this study, we aim for better representation of psychosocial vulnerability within health care and to create future research directions to reduce psychosocial vulnerability in rare diseases.
Authors: Rosanne M. Smits, Aukje Aerts, Teodor Angelov, Marissa Bentele, Ivo de Blaauw, Michaela Dellenmark-Blom, Saskia F. A. Duijts, Krister Fjermestad, Monica Franscini, Caterina Grano, Sigrid Hendriks, Laura Inhestern, Thomas Kenny, Charlotte von der Lippe, Loes Oomen, Jan Peter Rake, Andre B. Rietman, Iris A. L. M. van Rooij, Chris M. Verhaak, Nicoline B. M. Voet, Holly Walton, Wendy van Zelst-Stams, Linda Kwakkenbos
Institutions: Radboud University Nijmegen, Erasmus MC, Radboud University Medical Center, Amalia Kinderziekenhuis, Erasmus MC - Sophia Children’s Hospital, Alexandrovska Hospital, Medical University of Sofia, Universitätsklinikum Tübingen, University of Tübingen, Sahlgrenska University Hospital, Karolinska Institutet, University of Gothenburg, Netherlands Comprehensive Cancer Organisation, University of Oslo, Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo, Sapienza University of Rome, Vereniging Samenwerkende Ouder- en Patiëntenorganisaties, University Medical Center Hamburg-Eppendorf, Telemark Hospital, Donders Institute for Brain, Cognition and Behaviour, University College London, Radboud Institute for Health Sciences
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,990
OpenAlex ID: W4415587872