Rare diseases & EHDS: finding a delicate balance between research needs and patient rights

Guest article by the European Organisation for Rare Diseases (EURORDIS)

The European Health Data Space (EHDS) could be a new opportunity to ultimately improve the lives of over 30 million Europeans living with rare diseases. There are 6000 various rare diseases but only 6% of them have curative treatment. The rare disease community has many unmet needs.

The rarity of diseases means information and data about them are scarce, as there are often too few people in a geographic location to gather the necessary knowledge. Consequently, we still have a poor understanding of the pathophysiology of rare diseases. This is not only a challenge when formulating treatments to combat the disease, but it also results in under- or misdiagnosis, endangers patient health and causes downstream issues for clinical trial patient selection. Thus, the limited number of patients alongside the scarcity of available knowledge and expertise on these diseases, make rare diseases a field that could greatly benefit from European action. The creation of the EHDS holds a promise to enhance safe access to data to improve diagnosis, treatment, care and research for rare disease patients.

The fact that data is vital to progress on rare diseases is also recognised by patients themselves. According to EURORDIS survey, 97% of people living with a rare disease are willing to share their health data to foster research on their own disease, and 95% are also willing to share their data to improve research on diseases other than theirs. However, it is worth noting that 80% of people living with a rare disease wish to keep control over their data to avoid their information being used without their consent or in a different context from the one they disclosed.

To ensure that increased data sharing for research does not come at the price of a patient’s rights, there is a need to find a delicate balance between the research needs and individual data protection, as well as the prevention of informational harm and discrimination. This could be achieved through:

  • establishment of a secure data sharing environment;
  • putting in place data governance mechanisms allowing individuals to exercise control over their re-purposed data;
  • putting in place strong data anonymisation and pseudonymisation standards;
  • ensuring consistent and timely oversight of the data sharing systems;
  • increasing the level of digital health literacy of data sharing system’s users.

All in all, for the EHDS to live up to its promise has to achieve a balance between research needs and individual rights by applying a multi-faceted approach. That way researchers can continue making advancements in their field while protecting the privacy and sensitive information of individuals.

Disclaimer: the opinions – including possible policy recommendations – expressed in the article are those of the author and do not necessarily represent the views or opinions of EPHA. The mere appearance of the articles on the EPHA website does not mean an endorsement by EPHA. 

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