The White Paper looks at how aggregating genomic and clinical data at a global scale could enable countries with national genomic institutes and hospitals with in-house genomics institutes to come up with more ways to diagnose currently undiagnosed or misdiagnosed people with a rare disease and develop treatments. The White Paper suggests that a technical solution called a federated data system, which enables instantaneous, trustworthy access to datasets across countries or institutional locations, is one way to aggregate and share data.

Federated data systems are relatively expensive to set up, however, the benefits from sharing data are likely to off-set the cost. Broadly, the benefits can be divided into diagnostic benefits, clinical benefits, clinical trial benefits and personal benefits to the person with a rare disease.

The White Paper calls on countries to test out this proof of concept of a federated data system model in order to  understand the benefits further. The World Economic Forum is partnering with Genomics England, Australia Genomics Health Alliance, Genomics4RD and Intermountain Precision Genomics in  the UK, Australia, Canada and the US, respectively, to lead a proof of concept of such a federated data system by the summer of 2020.

The White Paper is part of the The Breaking Barriers to Health Data project, which aims to craft and test a scalable governance framework to support the effective and responsible use of federated data systems to advance ​diagnosis and management of rare diseases.

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