Act on Rare Disease Day 2022!

The 28th of February marks the 14th edition of the international awareness campaign for rare diseases. It is estimated that 300 million people worldwide are currently living with one of the 6000 rare diseases that have been identified.

Reusing health data offers opportunities to advance scientific research and improve health outcomes. This potential can only be fully realised through combining and sharing biomedical data. This is particularly true in the case of research on diverse and rare diseases. Patients suffering from them are geographically dispersed and in low numbers. Sharing data and combining health records could create knowledge and avoid duplicated studies, benefitting patients care.

Did you know that… as the prevalence of a rare disease in a population is quite low, developing treatments is an ongoing challenge. Our understanding of how diseases develop and evolve is usually incomplete, and recruiting patients to participate in research can be difficult. European regulations around rare diseases and digital health can be an opportunity to ensure access to safer and better health data to improve patient care. Discover more by listening to this podcast

Rare diseases represent a paradoxical example of the opportunities and challenges of reusing health data. On the one hand rare disease research has a greater need to harness the potential of data reuse, but on the other hand the protection of patients' interests can be more complicated to ensure. Patients can be concerned about questions of data security and misuse, and fear that data sharing could lead to discrimination.

This is why we need to understand patient needs to ensure their participation and engagement in research. Engaging patients living with a rare disease can also help to improve safeguards, reduce risks and increase the benefits resulting from the reuse of their health data.

Did you know that… The European LeukoTreat project aims to compiling a European wide database about leukodystrophies, a form of rare disease. The research team surveyed patients and their families to gather their views on the sharing of their health data. This process allowed them to imagine an ethical framework for the use of this database, where patients could be asked to provide a broad consent* followed by ongoing information, with an independent ethics steering committee in place. The article presenting this study is available here.

*Broad consent: consenting to the development of research in a pre-defined and broad field without the necessity to re-consent


How would you like to be involved in health data reuse? 

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