Europe is Getting Its Act Together on Rare Disease Research

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Applied Clinical Trials

Europe is gradually attempting to maximize the potential of the scattered data that, if brought together, might help improve diagnosis and treatment of Europe's 30 million rare disease patients.

It marked international rare disease day on February 28 with the launch of yet one more attempt to maximize the potential of the scattered data that, if brought together, might help improve diagnosis and treatment of Europe's 30 million rare disease patients.

An online knowledge-sharing platform on rare diseases will bring together some of the fragmented patient data accumulated across Europe in some 600 registers.

 It will also-and crucially-help boost the development of standards for data collection and exchange, to overcome one of the conspicuous weaknesses to date.

The platform comprises a European Directory of Registries, a Central Metadata Repository that permits semantic interoperability between registries, and a data protection tool that will provide distinct pseudonyms for patients in different contexts, prevent duplicate registration of patients, keep a protected link between the different pseudonyms, and preserve the possibility for re-identification by a trusted third party.

Europe's deficiencies in data management have long been evident, and its attempts to fill those gaps are still painfully slow-moving. Part of the problem is the lack of uniform development of the digital infrastructure on which data exchange depends. The progress has been so limited until now that the EU flagged up with pride what it considered a breakthrough in early 2019 when e-prescriptions and some limited electronic health record information could, for the first time, be exchanged cross-border. But the advance related only to a handful of  countries, and wider adoption of even this minor step is still months-even years-ahead.    

As is so often the case, the underlying problem is the diversity that characterizes Europe, with 28 member states (perhaps for a limited season only-count again on March 29) with wide differences in everything from levels of prosperity to cultural traditions. In healthcare, the differences remain stark-which is why the rare diseases platform is worth more than its meager achievement might suggest.

Currently, rare disease data is not collected EU-wide and there are no common standards to analyze the information that is available, so data are often not shared among registries or across countries. Most rare disease registries in the EU are managed by individual hospitals, research institutions, pharmaceutical companies, or patient advocacy groups, and the type of data collected varies widely, from developing medicines for particular diseases to tracking instances of rare diseases over time.


This dysfunctional situation is why Europe's health commissioner, Vytenis Andriukaitis, could legitimately boast that the platform is a genuine advance. As he pointed out, it will "address the fragmentation of data on rare diseases, promote the interoperability of existing registries and help to create new ones."

He added-with equal justice-that the platform will also be useful for the work of the European Reference Networks, the EU's recent attempt to create a score of centers of excellence on certain rare and complex diseases, bringing together scattered expertise. The concept is excellent. The fact that it is an innovative approach for Europe just demonstrates how late the EU's member states have been to recognize the merits of cooperation in tackling common challenges.

Tibor Navracsics, the commissioner responsible for managing the new platform, also pointed out how the platform "will help scientists, policymakers, and patients to make the best use of data on rare diseases that, until now, have remained largely unexploited."

"By setting EU standards for data collection and exchange, the platform will also make it easier to compare information collected in the future across Europe," he went on. Obvious enough. The surprise again is that it needed saying-or that the platform is only just now being launched, since the problem is longstanding.

As a first step, it is good step-except that it's a step that should have been taken long ago. Will Europe be able to catch up with international competition in this field as long as it still suffers from an Achilles heel?