The JARDIN Hackathon to Seek Solutions to Overcome Technical Barriers in Health Data Exchange: From the Point of Care to European Registry Networks

Effective exchange of health data between healthcare providers, national registries, and European Reference Networks (ERNs) is crucial for advancing research and clinical care of rare diseases. Technical, organisational, and legal barriers persist in many situations that disrupt this process. The Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN) tackles these barriers by identifying such existing solutions. At the technical level, there are existing standards, software, and infrastructures that could be adapted and reused if there were evidence of a method and value in doing so. These need to be identified, matched against known problems, and tested before subsequent work can begin to evaluate and deploy solutions. This paper describes the methodologies and outcomes of a hackathon conducted as a software-oriented workshop to collaboratively identify and implement solutions to technical barriers identified as relevant to rare diseases. The event brought together 47 experts from 10 European countries to combine their knowledge and experience to tackle challenges of data harmonisation, secure data access, and the Findable, Accessible, Interoperable and Reusable (FAIR) description of data services. Motivated by a simple use case, the participants proposed adapting existing infrastructures to create a realistic, secure data-sharing architecture based on existing standards. Solutions included federated querying of rare disease data integrated with a standard for data access conditions, the use of semantic models for rare disease data harmonisation across organisations, and extending a standard metadata model to better describe rare disease data being held by organisations. The process of expert-driven selection of the components yielded approaches relevant for the rare disease community and has provided important momentum. As an output of the JARDIN initiative, this will lead to further real-world evaluation and pilot testing together with rare disease data stakeholders and ultimately EU-wide recommendations that will benefit coordination and focus on improving data exchange.