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Rare Disease Foresight: What Should Future Rare Disease Policy Look Like?

Rare Disease Day marks a moment at the end of February during which awareness is raised of rare diseases. In many countries events are organized during which patients, caregivers, medical professionals, academics and industry come together to discuss prominent issues regarding rare diseases. This year Rare Disease Day was slightly different, and not just due to COVID-19 necessitating virtual meetings. This year, the European Parliament was presented with the results of an important European foresight exercise on the future of rare disease policy called Rare2030. Rare2030 sparked our interests because it put, amongst other topics, novel ways to foster innovation for rare diseases on the agenda. These are exactly the topics we are interested in in our Social Pharmaceutical Innovation project (SPIN;

The European Parliament had commissioned the Rare2030 foresight exercise to be led by the European-wide patient representative organization, Eurordis. The exercise involved 250+ experts and comprised four steps: gathering data through document analysis and workshops; identifying and ranking trends; creating future scenarios; and proposing policy recommendations.

The four resulting scenarios are visible on a graph with two axes representing ‘individual responsibility’ versus ‘collective accountability’ and ‘patient-needs-led’ versus ‘market-led innovation’.

Source: Rare2030 Website

The participants in the interactive Rare2030 exercise prefer scenario 1. In this scenario, patient organizations articulate directions for research and development (R&D) and healthcare policies. They also collaborate with other organizations in public-private partnerships. Rare 2030 sees scenario number 2 as the most likely. It is more or less an extension of what is happening today, with private investments and interests determining R&D agendas. The other two scenarios share a high degree of patients’ responsibility. In scenario 3, patients who can afford it would steer R&D and healthcare in their preferred direction. Scenario 4, regarded by Rare2030 as the least preferable, indicates a complete privatization of healthcare, including patient data appropriation. In this scenario, it would be difficult for rare disease patients to attract enough attention to their illnesses.

It is easy to understand the preference for a scenario in which patients may steer innovation and healthcare agendas, and a wide variety of parties champion solidarity. In light of this preference, Rare2030 proposed eight recommendations.

Since we in our SPIN project are interested in alternative arrangements and structures to stimulate rare disease innovation, we were interested in one recommendation in particular: “Improve the availability, accessibility and affordability of rare disease treatments, by attracting investments, fostering innovation and collaboration across countries, to address inequalities.”

This recommendation is laudable of course, but it also raises questions of how to do this precisely. A careful reading of the complete Rare2030 report leads to the conclusion that most attention goes out to regulation for expedited pathways (e.g. conditional market authorization), and smoother accessibility of orphan drugs. The report remains vague on how to organize pharmaceutical R&D in the field of rare diseases. The public-private partnerships mentioned in preferred scenario 1 might indicate a possible answer. With our SPIN project, we work on organizing rare disease innovation. We are eager to contribute to the questions following from and inspired by the Rare2030 foresight report.

For more information

On Rare Disease Day:

The complete Rare2030 report:


Written by: Dr. Wouter Boon

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