People with a rare disease face significant challenges and most rare diseases still take a long time to be diagnosed. Many patients go through years of testing and misdiagnosis before finally getting to see a specialist who knows what they are seeing in front of them. Only 5% of rare diseases have therapies to date – few curative, some transformative, most improving and prolonging life. Rare diseases are an area where the added value of the EU is obvious, as it can coordinate the provision of appropriate diagnosis and care to patient populations that would otherwise be too small and disparate. The most effective strategies are collaborative across borders, and the EU has a track record of great achievements through cross-country collaboration. Rare diseases are also a good example of the benefits of a universal access health system – allowing the sharing of risk across the whole population and ensuring the supply of expensive diagnosis and medicines that would be unaffordable for the families concerned on an individual basis. To respond to the challenges, the EU has introduced legislation to create a favourable environment to invest in new medicines to treat rare diseases, which have increased the range of therapies available through appropriate incentives. But improving the pipeline of new medicines is only part of the picture for rare diseases: key hurdles include decisions by competent authorities on whether such therapies would be reimbursed and therefore accessible to patients. What more could the EU do to support member state efforts to improve the current system through analysis, recommendations and pilot projects? The EU has also launched new European Reference Networks (ERNs), which aim to provide highly specialised care for patients with complex conditions. They bring together clinicians, researchers and patients to improve the knowledge base as well as care through cross-border collaboration.
- What role can ERNs play to increase the chances for rare disease patients to receive an accurate diagnosis and treatment?
- Which mechanisms in healthcare systems need to be changed in order to get different actors in health to work together more effectively?
- As personalised medicine becomes more of a reality, how can patients with rare diseases benefit?
- How can the EU help member states improve access to medicines for rare diseases and provide appropriate care at reasonable cost?
Should you not be able to view the gallery, please click here. Related content
- Event summary
- Event report
- Friends of Europe: Greater innovation needed to combat neglected diseases
12.30 – 13.00
Welcome lunch and registration of participants
13.00 – 14.00
Café Crossfire debate
End of debate