Rare Disease Day: 475 million across the world affected by rare diseases, says study

A World Economic Forum study released ahead of Rare Disease Day said only five per cent of the 475 million affected by rare diseases had access to treatment. Rare Disease Day is observed on February 29. The study — by health economists from the United Kingdom, the United States, Canada and Australia — said around 80 per cent of rare diseases emerged from genetic or genomic variants.

Individuals who suffered from rare diseases were born with them. This resulted in deaths of 30 per cent of children before the age of five, according to the study published on February 26, 2020.

A global framework for the secure sharing and aggregation of genomic and clinical data was needed to diagnose and treat rare diseases at a global scale, according to the study. Such a framework would result in economic benefits for all, the study argued.

With such a framework in place, countries and hospitals with genomic institutes could provide correct solutions to diagnose those who were undiagnosed or misdiagnosed with rare diseases.

The study suggested a federated data system — a technical solution — which could enable instant, secure access to data across different countries or institutions through a decentralised architecture. Such a system could be powered by applicational programming interfaces. However, such a system would cost around $500,000, according to the study.

The returns for investing in such a system were many, according to the study. The identification of pathogenic variants in disease genes, changes in medical management of patients, changes over improvement of clinical trial operations and personal benefits including gaining knowledge about conditions, were some of the advantages of having this system, the study claimed.

“The moral incentive to create a global genomic data consortium for rare disease has always been present,” said Arnaud Bernaert, head of Health and Healthcare, Shaping the Future of Health and Healthcare at the World Economic Forum.

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