Finding a path for rare diseases in the European data space

The Covid-19 crisis has played a key role in underlining the crucial role played by health data in the organisation of healthcare by providing insight into the evolution of the pandemic, shared learnings, treatments and vaccines. The power of collaboration around data through initiatives such as track and chase apps, genome sequencing and the use in how epidemiological data have underpinned health policies. However, the health sector has yet to catch up with the data revolution as digitalisation efforts are a decade late compared to other sectors. Only a fraction of the health data produced by a large number of sources, ranging from clinical trials to surveys and wearables, is currently reused.

Recognizing the crucial importance of health data, European Commission president Ursula von der Leyen has put forward a bold proposal for a European Health Data Space. Conceived as an interlinked system that offers access to portable, comparable and interoperable health data from across the EU, the European Health Data Space aims to promote the reuse of health data, boost research and ensure that citizens have control over their own data. The Data Governance Act, published by the Commission in November 2020 supports the implementation of the European Health Data Space, with a legislative proposal expected at the end of 2021.

Rare disease patients may be the best rationale for the EU Health Data Space. The limited number of patients that suffer from one of the 5000 to 8000 known rare diseases and the scarcity of knowledge and expertise make rare diseases a field that greatly benefits from European action. Rare disease patients are especially willing to participate in such efforts as the EURORDIS Rare Barometer survey found that 95% of rare disease patients are ready to share their health data compared to 37% to 80% of the general population.

Without data sharing, these patients will continue to face long diagnostic journeys and limited treatment options. The European Reference Networks (ERN) – virtual networks of experts across Europe that advise on the diagnosis and treatment of rare disease patients – have done a good job at establishing specific data registries. The next challenge is to make sure the data is interoperable and ensure the reuse of data.

There are almost 750 rare disease registries in Europe, only 51 of which operate at European level – the majority are national or even regional. Most registries are held in academic institutions linked to specific research. A small number are managed by pharmaceutical or biotech companies, with others being run by patient organisations. This fragmented landscape leads to data silos which need to be overcome.

Set to be supported by investments from the EU4Health, the Digital Europe and the Horizon Europe programmes, the European Health Data Space benefits from a promising political context following the publication of Europe’s Pharmaceutical strategy which includes a strong push for the digitalisation of health.

Building on the findings from the first working group organised in April https://www.friendsofeurope.org/events/a-european-health-data-landscape-for-rare-diseases/#speakers (do LINK), participants in the meeting will identify concrete recommendation for EU-action on health data to meet the specific needs of the rare disease community and more broadly all health stakeholders across Europe.

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