RARE Daily

World Economic Forum Proposes Framework for Sharing Genomic Data to Diagnose and Treat Rare Disease

March 2, 2020

Rare Daily Staff

The World Economic Forum has called for a global approach to diagnosing and treating rare diseases in a new paper that lays out a framework for sharing genomic data, and makes an economic case for doing so.

The paper, from the international organization that promotes public-private cooperation and written by health economists from the United Kingdom, Australia, Canada, and the United States, proposes the first global framework illuminating the potential economic benefits of securely sharing genomic data for the purposes of diagnosing and treating rare disease.

Though numbers vary, the paper estimates that there are currently 475 million people globally affected by rare disease, with only about 5 percent of that population having a treatment. Some 80 percent of these conditions are driven by a genetic cause.

By aggregating genomic and clinical data at a global scale, countries with national genomic institutes and hospitals with in-house genomics institutes could come up with more answers both to diagnose currently undiagnosed or misdiagnosed people with rare disease and to develop treatments.

To do this, the authors call for a federated data system, which will enable instantaneous, trustworthy access to datasets across countries or institutional locations via a decentralized architecture powered by applicational programming interfaces.

They argue that a return on investment in such a data system could be realized through improvements in the diagnosis and treatment of rare diseases, as well as improvements to clinical trials and the improvements to patient lives.

“There has never been a better time for international collaboration on solving rare disease,” said Arnaud Bernaert, head of health and healthcare, Shaping the Future of Health and Healthcare, World Economic Forum. “The moral incentive to create a global genomic data consortium for rare disease has always been present, but now with this paper it is clear that there are multiple benefits in terms of economic incentives as well.”

The paper calls on countries to test out this proof of concept of a federated data system model in order to fully understand the benefits. The World Economic Forum is partnering with Genomics England, Australia Genomics Health Alliance, Genomics4RD, and Intermountain Precision Genomics in the United States to lead a proof of concept of such a federated data system by the summer of 2020.

“Globally coordinated approaches are critical for counting the impact of rare diseases and creating new knowledge to inform solutions to improve the lives of people living with rare diseases,” said Gareth Baynam, board member of the Undiagnosed Diseases Network International and founder of Project Y. “Addressing the needs of people living with rare diseases is a global health priority, and a human rights concern. It is also an opportunity to translate insights into health and broader social services innovation for all of us.”


Photo: Arnaud Bernaert, head of health and healthcare, Shaping the Future of Health and Healthcare, World Economic Forum

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