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Rare Diseases Q1 2024

Elevating specialised rare disease care across Europe

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Inés Hernando

ERN & Healthcare Director, EURORDIS-Rare Diseases Europe

Meeting rare disease challenges needs an EU-wide, collaborative healthcare approach, uniting expertise and resources for comprehensive patient care.

Healthcare services for the rare disease patient population require a level of specialisation and expertise that is often unavailable at a local level, demanding collective EU action and integrated approaches across national borders.

Connecting rare disease experts across Europe

The establishment of European Reference Networks (ERNs) was a significant step forward, connecting clinical specialists across borders and harnessing Europe’s collective expertise to diagnose and treat rare diseases. Although ERNs are clinical knowledge networks providing access to evidence-based information and professional education, they are not direct healthcare delivery networks. Thus, rare disease patients frequently need to cross borders for care.

A key concern is whether European health systems can sufficiently serve individuals with extremely rare diseases or requiring complex surgeries, with fewer than 500 cases annually across the EU or limited treatment centres. This prompts questions about enhancing EU efforts for equitable access to care and planning specialised healthcare services based on optimal population size.

Rare disease patients frequently
need to cross borders for care.

Access challenges addressed

A potential solution is EU cooperation to commission highly specialised services from ‘European Lighthouses’ — recognised Expert Centres connected to European, national and international networks. This would involve an EU healthcare benefit basket for a defined patient population. The success of this model requires EU countries to strengthen cooperation and manage specialised services more effectively, moving beyond bilateral agreements towards a structured approach.

Additionally, defining and standardising access pathways for each service, incorporating the role of ERNs, integrating workforce planning and ensuring training and shared agreements with local and national centres for efficient follow-up is crucial. This requires not only policy changes but also a cultural shift towards viewing the commissioning of certain highly specialised services as a collective responsibility.

The need for ambition

Our proposal is politically audacious. It poses challenging questions on funding, the centralisation of certain services at the EU level or adopting new referral mechanisms to speed up access to cross-border healthcare. Our proposed Lighthouses model for specialised services could spark debate on expanding the European Health Union beyond crisis preparedness to address other initiatives more efficiently through enhanced cooperation, less constrained by national health system limitations.

Our European Conference on Rare Diseases and Orphan Products (ECRD) 2024, scheduled for 15 and 16 May in Brussels and online, will feature a session on access to highly specialised healthcare. The conference is supported by the European Commission, AFM-Téléthon and several healthcare companies including UCB and Alexion AstraZeneca Rare Disease.

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