The European Health Data Area (EHDS) will house patient data across Europe. A draft regulation, leaked last week, said the system would promote the transfer of data across borders, supporting both care delivery and research and innovation. A communication accompanying the draft proposal stated that the digital transformation of healthcare was essential, “to support long-term competitiveness and innovation within the EU medical industry, and to help the EU to recover from the pandemic”.

Patient groups have watched these developments carefully. “In the long term, patients can expect the European Health Data Area to improve their quality of life by improving the quality of care they receive in EU member states,” said Petra. Wilson, Senior Advisor, European Health Policy and EU. Business, HIMSS. “In the shorter term…patients can expect to be able to have much better access to and control over the health data that concerns them.”

For the rare disease community in particular, sharing data at the population level holds promise. “Europe’s logic of doing anything in health is blindingly obvious for rare diseases,” said Tamsin Rose, senior health researcher at Friends of Europe.

A potential generator of scientific innovation

This pooling of data is likely to benefit patients with rare diseases, some of which occur so rarely that they are called syndromes without a name, or SWANs. “For rare diseases, obviously you want the absolute maximum amount of data flowing, and you also want the maximum amount of access by researchers,” Rose explained.

Friends of Europe recently published a report on the potential of EHDS to revolutionize care for rare diseases, arguing that not only patients with rare diseases could benefit from EHDS; they could also offer lessons from their experience. European Reference Networks (ERNS) were created in 2017 to facilitate the sharing of information on these rare diseases; but insufficient funding meant they sometimes struggled to reach their potential, Rose said.

The cost of creating clean, robust and comparable data is often underestimated, Rose said. With ERNs, “there wasn’t enough allocation to data and data services, data management, data collection, data architecture – I think that’s the key .”

Complexity of cross-border care

Indeed, harmonizing data collection across Europe’s many healthcare systems will require investment from member states, Wilson observed. The biggest challenge for the EHDS “is to achieve its ambitious goal of implementing a fully integrated and interoperable electronic health record system in the EU within one year of the entry into force of the regulation”.

In addition, the system will need to balance ethical issues around patient privacy and consent with the need to give researchers access to data and encourage scientific research. One of the differences between patients with rare diseases and other citizens is their willingness to share data that can accelerate research and innovation – “to go further and faster than the general population”, said Rose said. The rare disease community fears that its interests will be lost or diluted within a larger system.

But Rose said the community was optimistic. “They desperately want it to work and to work well, for the most ambitious forms of sharing to develop.”

“For rare diseases, it’s like finding a needle in a haystack. You need to create the haystack to be able to find where the needle is.