Extending the Patient Summary for Rare Disease and Rare Cancers in the EHDS

There are more than 6000 known Rare Diseases (RDs), which are often multi-systemic, and about 200 rare cancers (RC) which are the RD of oncology. The knowledge and understanding of rare diseases and rare cancers is limited because of their rarity. The European Health Data Space (EHDS) is a set of regulations, standards and guidelines that aim to empower individuals to access and control their personal health data. Electronic Health Records (EHRs) form the basis for primary data sharing and information exchange in the EHDS, instrumental for improving the quality and safety of patient care, while supporting research, innovation, and policy-making. Patient Summary is one of the primary health data categories mandated by the EHDS. This paper reviews essential data elements for RD and RC patient summaries. Starting from typical use cases for planned and unplanned care, this paper proposes data element extensions for patient summaries that address the needs of RD and RC patients, bridging primary and secondary use of data.