The European Health Data Space (EHDS) - Building a path for rare diseases and learning from its experience

Participants welcomed the report “Building a path for rare diseases in the European Health Data Space” produced by Friends of Europe during an event on 8 November and shared their views on how a European Health Data Space (EHDS) can benefit rare diseases.

“The last few months have shown a clear acceleration in telehealth,” said Tamsin Rose, Senior Fellow at Friends of Europe and the event moderator. “But is it permanent? Today we can see where the gaps are, as well as the opportunities for change.” (00:01:10)

Before opening the floor to participants Rose briefly summarised the report, in particular listing the four principles, namely:

1. Ensure federated access to harmonised rare diseases health data in an interoperable continuum encompassing epidemiological, healthcare, research, quality of life and treatment-related data
2. Build partnerships for rare diseases and leverage existing initiatives such as the European Reference Networks (ERNs)
3. Develop digital skills for the rare diseases community
4. Build on experiences from the rare diseases community to empower health data users through systems of trust

If EHDS can work for the rare diseases community, it will work for everyone.

Data can build knowledge

When it comes to rare diseases, sharing data is part of the DNA. Yet there is a risk that data related to rare diseases could be lost in the bigger picture of health-related data – so how do we ensure that the specific nature of rare data can be accommodated in the data space?

“The silo approach per disease or per country goes nowhere,” said Yann Le Cam, Chief Executive Officer of the European Organisation for Rare Diseases (EURORDIS). “It’s a deadlock. Only a standardised system can work.” (15:00)

“It’s true that for rare diseases we are less mature, but that may turn into an advantage as it gives us more flexibility to shape the system.” (16:16)

Access

Ease of access to data is a prerequisite for a successful EHDS. “It is essential that it is easy to use for all stakeholders across Europe,” said Le Cam. “Data is knowledge, and knowledge is life.”

“Data can also build our knowledge base,” he continued, “which will enable us to learn about the causality of new diseases, which in turn will enable us to build better health strategies in the future.” (00:18:01)

“The question of access is not just for researchers and industry, but also for public bodies,” added Andrzej Ryś, Director at the European Commission Directorate-General for Health and Food Safety. (00:31:18)

Quality of data

“[The] EHDS will provide us with a huge opportunity to look at the bottom of the iceberg,” said Ana Rath, Director of ORPHANET.

“At the moment not all rare disease patients are reaching their expertise networks, and the burden of rare diseases is completely hidden and off the radar of policymakers,” she said.

“[The] EHDS would give us the evidence to enable us to make informed decisions that can change the lives of patients suffering from rare diseases,” she continued. “But for this to happen, we need access to data. We need common data models and a set of standards that are interoperable, and we need mapping systems that will mitigate the lack of quality in data sources.” (00:20:17)

Data sharing

“[The] EHDS is the future for management of data coming from hospital for the service of the patient,” said Maurizio Scarpa, Coordinator of the European Reference Network for Hereditary Metabolic Diseases (MetabERN), explaining that the European Reference Networks (ERNs) are formed from hospitals, but this in turn raises an issue. (00:36:54)

“Each hospital is a silo,” he explained. “Hospitals are generating billions of data, but it is unstructured, not of good enough quality and not interoperable. This limits the sharing of data.” (00:37:37)

“We need to develop projects to change the mentality of generating data,” he explained. “We need infrastructure to collect data and need to be led by our motto: share can cure.” (00:39:24)

Stelios Kympouropoulos MEP added that the European Parliament can “work towards creating a common governance to collect as much data as possible to promote the transfer of knowledge and best practices, with the ultimate objective of having a global community of knowledge.” (00:47:31)
Role of EU?

Juozas Olekas MEP proposed a stronger European health union. “We need to discuss the need to strengthen EU influence in healthcare,” he said. “We need to change the treaties to give more responsibility to the EU on rare diseases.” (00:53:22)

Speaking on behalf of the European Commission, Ryś said that a lot of the recommendations in the Friends of Europe report are on his organisation’s radar.

“We need to build on our success stories,” he said. “When we set out the future framework, we need to build on our experience and progress on the work we have done. For example, the digital skills agenda is very important, and hopefully we can invest more in this field.” (00:29:31)

He also spoke about the need for a “European trust agenda”, adding that this must be built into future legislation around the EHDS, for example around consent forms. (00:30:43)

Kympouropoulos agreed, stating that patients “must feel their data is secure and is treated in compliance with applicable data protection framework.” (00:48:55)

Responding to a comment from the moderator that there was often a gap between what was agreed at the EU level versus implementation on the ground, Ryś said that the individual needs of member states need to be understood.

“Member states are developing at different speeds,” he said. “Some are setting up future elements of [the] EHDS, and we want them to pilot the exchange of data. At the same time, we are continuing setting up national contact points, and countries are already sharing their experiences.” (00:33:24)

“ERNs are close to my heart,” said Tapani Piha, Senior Advisor at FI-Sitra. “We will need to build the EHDS from the elements that we have at hand, and ERNs are one of these.” (00:42:34)

Piha argued that Europe can create “an umbrella of different initiatives” and expand this cross-border exchange of data. (00:44:21)

“We need smoother access across borders, and this is where [the] EDHS can bring added value,” he added. (00:44:43)

“The ability of the EU to demonstrate its value has become very clear,” concluded Tamsin Rose. “If we can get the EDHS to work properly and effectively, this will have a huge impact for citizens, and they will start to see that Europe that works for them.” (00:59:52)