Can a revolution in health data transform rare diseases?

Frankly Speaking

Sustainable Livelihoods

Picture of Tamsin Rose
Tamsin Rose


Healthcare, like most systems, is designed for efficiency and scale. Patient pathways are created to deal with the diseases that affect the majority of the population. This allows health managers to predict how to allocate resources and build capacity in the system. Chronic conditions, which affect one in two adults, account for the overwhelming majority of health spending and hospital resources.

Patients with a rare disease and their families have a very different experience. 70% of rare diseases are genetically determined, with a big impact on quality of life and life expectancy. It can take years to get a diagnosis and for 94% of the thousands of rare diseases identified to date, there are no treatments. Because their experience falls outside the norm, rare diseases patients and their clinicians face an uphill battle to put treatment in place.

The future of healthcare, like any other economic sector, will be increasingly dependent on data facilitated ecosystems. Over the past decade, the amount of data created, captured, copied or consumed has globally exploded from 1.2tn gigabytes to 59tn gigabytes. Big data and artificial intelligence will revolutionise all aspects of health, accelerating the development of therapeutics and holding the promise of personalised medicine, tailored to the specific needs of the patient. To realise this potential, we have to radically increase the amount of data that is collected and foster new ways of accessing and sharing data to create new insights.

This ambitious data architecture will connect data stores across the European Union

Progress in the field of rare diseases is critically dependent on sharing data. Each rare disease affects a small number of people, who may be situated at a substantial geographical distance from one another in different countries. All too often, rare diseases data sits in scarce and fragmented data silos created by clinicians across health systems.

For rare diseases, data that is interconnected and shared will deepen understanding, trigger medical advances, speed up the diagnostic journey and ensure that all patients – wherever they live – can benefit from the best expertise and care in Europe.

The connectivity of everyday life continues to accelerate. By 2023, there will be almost 30bn web-connected devices, up from 18bn in 2018. Digital tools allow huge amounts of data to be generated and collected, which can then be shared, analysed and utilised in many ways, from improving routine procedures to generating innovative breakthroughs. The healthcare sector is part of this rapid digital transformation. The potential of data to deliver more effective and efficient care increases the imperative to build a shared health data environment at the European level.

The European Commission is launching the European Health Data Space (EHDS) as a priority for the 2019-2024 mandate. This ambitious data architecture will connect data stores across the European Union, federating electronic health records, genomics data and data from patient registries to become indexable and searchable. This will support healthcare delivery, as well as health research and policymaking purposes.

The field of rare diseases is ideally positioned both to contribute to and benefit from the EHDS

The challenge in developing the EHDS goes beyond the many questions of technical interoperability to considerations around defining a governance philosophy that fosters patient trust and protects privacy. This governance framework should promote data accessibility while ensuring security. The EHDS must works within the variation and complexity of existing healthcare systems to connect the public, private and non-profit sectors.

Investment in the EHDS positions Europe as the pioneer in creating an ethical and human rights-based legal framework for digital health and data management. There will also be benefits for competitiveness by encouraging home-grown innovation that could grow to scale across the continent and maintain Europe’s strength in life sciences and healthcare. A significant proportion of European super computing capacity is already dedicated to health research. Looking ahead a decade, quantum computing will be a huge leap forward in processing capability and therefore impact.

As more data enters the EHDS, the challenge for the future will be to find the signals among the dense noise. Friends of Europe has just published a report calling for the EHDS to prioritise rare diseases as a priority use case. Against this backdrop, the field of rare diseases is ideally positioned both to contribute to and benefit from the EHDS. Indeed, for the estimated 30mn people in Europe living with a rare disease, the European Health Data Space offers something even rarer: hope.

This is a prize worth fighting for.

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