Rare Disease Data Management across Europe: Insights from the JARDIN Survey on Data Sharing and Interoperability

Introduction: Integration of Rare Disease (RD) data from local Healthcare Providers (HCPs) into national RD databases and European Reference Networks (ERNs) is essential for the improvement of care for RD patients, e.g. for unsolved case and development of novel therapies. However, connectivity between ERNs and national or regional RD databases remains limited, despite ongoing efforts to reduce barriers. The continued lack of standardized approaches hampers effective cross-border medical data use. Method: A European-wide survey, conducted as part of the Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN), aimed to assess current practices and to identify barriers, and solutions for sharing of RD data across European Union (EU) Member States and associated countries. The survey targeted clinicians and IT experts at the hospital levels, receiving 457 (52.3%) and 100 responses (58.5%), respectively. Data were analysed using frequency distributions and total counts. Results: The analysis reveals significant fragmentation in digital infrastructure, data standards, and consent practices. While a few countries collect patient information fully digitally, with implementation of national RD registries and ORPHAcode policies, the majority still relies on paper-based documentation. Data sharing with ERNs remains largely a manual effort, with limited automation and low implementation of FAIR (Findable, Accessible, Interoperable, Reusable) principles as enabler of this automation. Lastly, consent management is inconsistent, mostly paper-based, and poorly integrated into hospital data collection systems. Conclusions: The survey underscores the importance of fostering dialogues around common barriers, limitations, and ongoing projects that support the adoption of existing solutions and best practices. Within JARDIN, a broad range of tools, standards and infrastructures developed through previous and ongoing European initiatives were identified. These address various challenges from semantic standards and FAIR data principles to consent frameworks, data-sharing infrastructures, and governance models. The survey emphasizes the need for policymakers, hospital IT coordinators and RD researchers to start with the widespread, practical implementation of these solutions.