Rare diseases: still on the fringes of universal health coverage in Europe

Abstract

Despite general advancements in population health indicators and universal health coverage, people living with rare diseases and their families still experience considerable unmet needs, including prolonged diagnostic journeys, limited treatment options, and a huge psychosocial burden due to the lack of coordinated, integrated care. Attainment of universal health coverage for rare diseases is dependent on fundamentally different health determinants and demands for different solutions. This involves consolidating expertise through Centers of Excellence, establishing efficient care pathways, fostering extensive collaboration at European and global levels in research and healthcare, and putting patients at the center of care. Furthermore, development of specific indicators and coding systems is crucial for monitoring progress. Only in this way Europe can strive towards a future where people living with rare diseases receive the same level of equitable, safe, high-quality healthcare as other members of the society, in alignment with the overarching goal of leaving no one behind.

Keywords: Care pathways; European reference networks; Health determinants; Healthcare policy; National frameworks; Rare disease; Universal health coverage.