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What can we learn from European rare disease policies to future-proof our health systems?

By Norbert Couespel, chair of the Future-Proofing Health Systems Committee of the European Health Parliament (7th edition), together with Morgane Cuisenier and Athanasios Filippou, members of the Future-Proofing Health Systems Committee

Rare Disease Day was 28 February, and communities across the world unified their voice to raise awareness of the need for better healthcare and equity for the more than 300 million people living with a rare disease and their families globally.1 On this occasion, I had the opportunity to represent the European Health Parliament (EHP) as chair of its Future-Proofing Health Systems Committee at the 2nd International Conference on Rare Diseases: Greek Chapter. Patient advocates, healthcare professionals and European policy-makers debated the collective actions we can take to improve standards of care for people living with a rare disease, and discussions addressed the need for an adapted and ambitious European action for rare disease, but the conversation was also a wealth of inspiration for the ongoing construction of a European Health Union.

Rare disease policy requires us to think collectively, with patients and their families at the core

The strong European collaboration in rare disease is, in many aspects, a success story. The challenges inherent to rare conditions, with a low prevalence and a heterogenous and geographically spread population, have rendered cross-border collaboration and a harmonised approach to the provision of care a necessity. Indeed, most people living with a rare disease experience our health systems as an odyssey, navigating through lengthy diagnosis and delayed medical intervention, disparities in accessing treatment—when there is one available—and limited coordinated specialised care and social support. The scarce scientific knowledge and lack of data to substantiate the clinical, economic and social burden of rare disease are some of the challenges that we still face to make the right adaptations to healthcare systems. 

One of the most successful areas of European health policy

Over the past 20 years, ambitious European rare disease policies such as the Orphan Medicinal Product (OMP) Regulation, have incentivised research and development in areas of high unmet need and supported access to best-in-class care for rare disease patients. In addition, the set-up of the European Reference Networks in 2017 is one of the strongest achievements for the rare disease community, focusing on reducing diagnosis delays, supporting access to specialists and integrating care for people living with rare disease, ultimately providing better standards of care for Europeans. However, further progress needs to be sought. In days of special challenges for the European project and for international peace, rare disease policy demonstrates how working together creates progress for all. 

Improving rare disease policies to build a healthier and more sustainable Europe

Several important European policies are currently being revised, providing an opportunity to rethink our healthcare systems to better tailor them to the realities of living with a rare disease. The European Health Data Space could provide the right framework to strengthen our capacity to collect and analyse health data, while ensuring their interoperability across the EU, thereby informing decision-making, but also facilitating the management of complex conditions and the dialogue between patients and healthcare providers. 

This year’s revision of the EU OMP and Paediatric Regulation and of the Cross-border Healthcare Directive also represents an opportunity which cannot be missed, and utmost consideration must be given to rare disease patient needs and rights in the build back of European health systems. As recommended by the European Health Parliament (EHP6 Recommendations), these legislative milestones provide the opportunity to update regulatory requirements for therapies targeting rare diseases, rare and paediatric cancers and support adapted trial design for paediatric cancers. 

The digital transformation of healthcare delivery is already underway, while breakthrough scientific innovations such as gene therapies will have a long-lasting impact on the treatment of rare diseases. While the momentum to advance the rare disease policy framework is growing at European and regional level, these transformations also carry challenges for the sustainability of our healthcare systems as well as for their capacity to achieve equality among patients, and will therefore need to be prepared through adequate policy frameworks. For example, EHP6 has previously called for EU funding programmes, such as the now-established EU4Health Programme, to support the simplification of budget access procedures, allow the deployment of research programmes and improve citizens’ access to treatment.

Today, 30 million Europeans live with a rare disease,2 experiencing a significant medical burden, as well as limitations in their day-to-day lives. A collaborative and continued effort across sectors, countries and between national and European level, is essential to better equip our healthcare systems to face some of the most complex healthcare trends of the decade impacting people living with a rare disease and their families.

95% of rare diseases have no cure, 50% of them affect children.3 New therapies and gene therapies are coming, and as a community, we must ensure that our healthcare systems are prepared. As discussed during the conference, the European Union can consider regrouping rare disease initiatives under a European plan for rare diseases, supporting screening, early intervention and the availability of treatments, towards an equitable access for all. 

Towards future-proofed health systems in Europe

Our EHP Committee works towards a vision: health is neither a cost, nor a normal business, but a collective social good and a right for all. The COVID-19 pandemic has shone a light on critical gaps in our health systems, challenging our capacity to face increasing pressure today and for the decades ahead. Future-proofed health systems should be: 

  • strengthened yet flexible to accommodate ongoing health threats, respond to the evolving needs of citizens, patients and healthcare professionals, and absorb unanticipated health crises
  • geared towards upholding health as a collective social good and a right for all people and communities, while making the best of research and innovation for advancement of healthcare science and practice
  • best served by collaborative and accountable governance, allowing all to be informed and active builders of the future of health

As we are carving out recommendations for health policy-makers to take into consideration in the upcoming health policy milestones, we are closely considering rare diseases, striving to ensure rare disease patients’ rights and needs first, while seizing current opportunities for progress and fostering a pragmatic approach to healthcare, with a focus on local impact. We are still at the beginning of our process, so should you be interested in learning more or contributing, please get in touch.

 What is the European Health Parliament?

What is the European Health Parliament and how does it help the European action for rare disease movement towards future proofed health system

The European Health Parliament is a pan-European movement, connecting and empowering 60 selected young health leaders each year to rethink health policies. Founded seven years ago, the EHP is grounded on the trust in those living and influencing the world of tomorrow to provide ideas for the health of tomorrow, working together with all stakeholders and building consensus within the health community. We develop policy recommendations, published each year in the summer, addressing today’s most pressing health issues, in collaboration with the European Institutions. Find out more here:

[1] Nguengang Wakap, S, Lambert, DM, Olry, A et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet 28, 165–173 (2020).

[2] Rare 2030, Rare Foresight Study, EURORDIS

[3] The Lancet Diabetes & Endocrinology, Spotlight on rare diseases, The Lancet Diabetes & Endocrinology, Volume 7, Issue 2, 2019, page 75,

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