The Dilemma between Data Protection and Data Altruism within the Context of Rare Diseases in the European Health Data Space

This article analyses how the notion of health data under the GDPR has evolved through the legal instruments and provisions on health data sharing in the Data Governance Act (DGA) and the European Health Data Space (EHDS), aiming both legal sources to facilitate data access and governance, including electronic health data for its primary and secondary use, by establishing harmonised rules. These regulations open opportunities to enhance cross-border data access, the promotion of data altruism, and the development of data governance models facilitating biomedical research. In the specific context of rare diseases, however, significant challenges remain emerging from variations between EU Member States implementation of the EHDS. In particular, the EHDS's secondary use framework, the genomic and biobank data exception, and the coexistence with the DGA's consent‑based data altruism model create a complex legal landscape for rare disease research. This contribution intends to clarify the legal bases for secondary use to improve the capacity to protect data subjects' right to data protection, while preserving data value and utility in biomedical research within the context of rare diseases.