Edition of 30 March 2021

Rare 2030 recommendations: the future of rare diseases starts today

The two-year Rare 2030 Foresight Study marked the launch of its ambitious suite of future-facing recommendations with a major policy conference. The conference began and ended with a call for an action plan for rare diseases in Europe by 2022, to guide National Plans for Rare Diseases and ensure that no one living with a rare disease is left behind.

Over 800 stakeholders from across Europe and far beyond attended the virtual event, with the participation of the European Commissioner for Health and Food Safety Stella Kyriakades, Health Ministers from France and Czech Republic, and Members of the European Parliament. The conference – which is available to watch - was the perfect occasion to share the fruits of this work with a global audience representing patients, policymakers, researchers, clinicians, industry representatives, and more.

What are the key messages of the Rare 2030 Recommendations?

The recommendations are presented through eight interlinked chapters – from diagnosis to data, research to care - of a comprehensive final report. The centrepieces of each chapter are the recommendations themselves: an overarching recommendation setting the direction for the next decade in each area. This is followed by clusters of more specific, action-focused recommendations, that can be applied at a local level, or to address certain issues. In this way, the project has delivered often-ambitious recommendations regarding the ‘grand vision’, complimented by concrete proposals - targeted to specific actors - to reach this: a roadmap that can be used for all who work in the field of rare diseases.
Importantly, each chapter also sets measurable goals, for the first time in rare disease policy, setting the standards that all countries in Europe should be working towards. These include specific goals around time to diagnosis, or reducing vulnerabilities of people living with a rare disease, that are also in line with the UN’s Sustainable Development Goals.

Where did these Recommendations come from?

The Rare 2030 initiative was a foresight study for the rare diseases field, initiated by the European Parliament. The breadth and depth of the elaboration process imbues major value in the final product. The recommendations were generated in accordance with the foresight methodology, which -in a nutshell- entailed the following steps:

• Establishing and analysing the European status quo, highlighting the gaps and challenges remaining over a decade after the launch of key policy documents such as the Commission Communication: Europe’s Challenges, the 2009 Council Recommendation on an action in the field of rare diseases, and the ‘Cross-Border Healthcare Directive’ of 2011;
• Proposing over 100 individual future-facing trends deemed likely to affect the field in the coming years, before ranking and clustering these trends;
• Evolving the trends to four contrasting future scenarios and building consensus on the most preferential scenarios, as well as the desirable elements of the other scenarios.

A major strength of the Rare 2030 project has been its open, consultative approach. A dedicated Panel of Experts, over 200-strong, guided the activities, and shaped the final recommendations. The contributions of this multistakeholder and multinational body (largely European, but benefiting significantly from a strong cohort of experts from across the globe) were bolstered by the discussions of the ECRD 2020, the surveys of Rare Barometer Voices, a series of national workshops across 2020, and a dedicated body of Young Citizens.

The eight recommendations

The core recommendations for each of the 8 chapters are as follows:

• Recommendation 1: A European policy framework guiding the implementation of consistent national plans and strategies, monitored and assessed by a multistakeholder body on a regular basis.
• Recommendation 2: Earlier, faster and more accurate diagnosis of rare diseases through better and more consistent use of harmonised standards and programmes across Europe, new technologies and innovative approaches driven by patient-needs.
• Recommendation 3: A highly specialised healthcare ecosystem, with political, financial and technical support at European and national levels, that leaves no person living with a rare disease in uncertainty regarding their diagnosis, care or treatment.
• Recommendation 4: Guarantee the integration of people living with a rare disease in societies and economies by implementing European and national actions that recognise their social rights.
• Recommendation 5: A culture encouraging meaningful participation, engagement and leadership of people living with a rare disease in both the public and private sectors.
• Recommendation 6: Rare disease research maintained as a priority - across basic, clinical, translational and social research.
• Recommendation 7: Data used to its maximum to improve the health and well-being of people living with a rare disease.
• Recommendation 8: Improve the availability, accessibility and affordability of rare disease treatments, by attracting investments, fostering innovation and collaboration across countries, to address inequalities.

What’s next? Join the campaign!

Together, these recommendations call for bold and ambitious change in Europe and beyond. The common message underlying the recommendations is the necessity for a new European policy action plan for rare diseases, to deliver the changes needed.

While the research phase of Rare 2030 project is now ending, the next phase now begins : to engage all relevant stakeholder to implement these recommendations and turn this vision into reality for the 30 million people living with a rare disease in Europe. Those who participated to the Rare 2030 project, for instance via the panel of Experts or Young Citizens body, are encouraged to remain part of this activity by carrying forward this call and recommendations. If interested in joining these efforts please sign up for.