Europe already has many of the standards and policy frameworks needed to improve the use of rare disease data. The remaining challenge is implementation: making high-quality, interoperable and reusable data a routine output of research and clinical practice.
This brief identifies four priorities:
- Require good data practice. Funders should embed regulatory readiness, data quality and interoperability into funding conditions and project expectations, including use of common standards and demonstrable interoperability. (Recommendations 1.1, 2.3, 2.4, 3.1, 4.4)
- Fund the enablers of responsible data use. Regulatory support, automation, workforce, EHDS readiness, data curation and interoperability need to be treated as legitimate and eligible research costs rather than unfunded expectations. (Recommendations 1.2, 2.1, 2.2, 2.3, 3.1, 4.3, 4.5)
- Enable implementation. Regulators, and their relevant authorities, should provide clear legal and regulatory guidance for cross-border data use. Research organisations (including infrastructures) should develop, share and support practical frameworks for cross-border data use (Recommendations 1.2, 1.3, 1.4, 2.1, 2.2, 2.3, 2.4, 2.5, 4.2)
- Reward implementation, stewardship and partnership. Data quality, interoperability and stewardship should be properly considered in project assessment. Patient-led data registries and patient organizations should be recognized as substantive collaborative partners in the research and participating families should receive meaningful feedback. (Recommendations 3.1, 4.1, 4.2, 4.3, 4.4, 4.5)
In other words, funders must require, fund and reward good practice; regulators and competent authorities must provide clearer pathways; research infrastructures and organisations must enable implementation; and consortia and registries must put these expectations into practice.
Europe does not need another generation of recommendations. It needs coordinated implementation of what is already known to work.
