European journal of medical genetics · 2026
Developing consensus on rare disease care pathways and ERN integration across Europe: insights from stakeholder workshops and a Delphi study.
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Juozapavičiūtė-Dvinelė Augutė, Tsang-A-Sjoe Michel W P, Auzenbaha Madara, Ažukaitis Karolis, Tumienė Birutė, JA JARDIN WP6 collaborators
Аннотация
BACKGROUND: Rare disease care pathways are complex and require coordination among specialised and non-specialised services, including genetic diagnostics, multidisciplinary expertise, and cross-border collaboration. Despite increasing policy attention and the establishment of European Reference Networks, the development and implementation of cohesive rare disease care pathways remain inconsistent across Europe. A shared, consensus-based framework reflecting stakeholder priorities is needed.
METHODS: This exploratory study combined structured stakeholder workshops and a Delphi consensus process. Nine workshops were conducted within the JARDIN project, engaging stakeholders from 16 European countries. Data were collected using standardised Miro boards and analysed thematically using MAXQDA, guided by the SEIPS 2.0 framework. Insights from this analysis informed the development of statements, which were evaluated through a Delphi survey. Consensus was predefined as a median score of at least 4, an interquartile range (IQR) ≤1, and ≥80% agreement (ratings 4-5).
RESULTS: A total of 216 individuals participated in the workshops, of whom 164 contributed during live sessions. Workshop data generated 1767 entries mapped across SEIPS domains. Seven thematic areas were identified: national strategy and governance; financing and sustainability; organisational structures and care coordination; access and equity; digital infrastructure and data systems; capacity building and education; and patient empowerment. Eighty-eight participants completed the Delphi survey, and consensus was achieved on all statements in the first round.
CONCLUSION: The findings demonstrate strong cross-country agreement on system-level requirements for effective rare disease care pathways. These consensus statements provide a structured framework for developing national care pathways and integrating European Reference Networks activities into routine healthcare systems.
METHODS: This exploratory study combined structured stakeholder workshops and a Delphi consensus process. Nine workshops were conducted within the JARDIN project, engaging stakeholders from 16 European countries. Data were collected using standardised Miro boards and analysed thematically using MAXQDA, guided by the SEIPS 2.0 framework. Insights from this analysis informed the development of statements, which were evaluated through a Delphi survey. Consensus was predefined as a median score of at least 4, an interquartile range (IQR) ≤1, and ≥80% agreement (ratings 4-5).
RESULTS: A total of 216 individuals participated in the workshops, of whom 164 contributed during live sessions. Workshop data generated 1767 entries mapped across SEIPS domains. Seven thematic areas were identified: national strategy and governance; financing and sustainability; organisational structures and care coordination; access and equity; digital infrastructure and data systems; capacity building and education; and patient empowerment. Eighty-eight participants completed the Delphi survey, and consensus was achieved on all statements in the first round.
CONCLUSION: The findings demonstrate strong cross-country agreement on system-level requirements for effective rare disease care pathways. These consensus statements provide a structured framework for developing national care pathways and integrating European Reference Networks activities into routine healthcare systems.