How Data Sharing Can Improve Diagnosis and Treatment for Rare Diseases

by Danny Levine

Investment in global federated data systems could unlock data about rare diseases and advance the diagnosis, treatment, and management of these, according to a white paper published at the end of February by the World Economic Forum.

The paper, Global Access for Solving Rare Disease: A Health Economics Value Framework, points to economic benefits that would result from a global approach to collecting and sharing genomic data to diagnose and treat rare disease as a result of potential improvements to diagnosis, clinical management, clinical trials, and the personal wellbeing of rare disease patients and their families. It proposes a global framework for securely sharing genomic data through a federated system for the purposes of diagnosing and treating rare disease.

A federated data system is made up of connected databases that remain independent and self-contained. But they are transparently connected and queried at once without moving or copying the data they contain. Such a framework would allow for the sharing of large datasets from around the world while allowing the owners of individual datasets to protect personal sensitive health data and local institutions to follow cultural and ethical expectations about data protection and privacy, the report said.

The report estimates 10 percent of the population—as many as 450 million people in the world—have a rare disease. On average, it takes seven years for people to get an accurate diagnosis. Even when they do get diagnosed, treatments may not be available. While there are an estimated 7,000 rare diseases, approved therapies are available for only about 5 percent of these conditions. One of the major obstacles researchers face is the inability to access adequate data needed to allow for better diagnosis and development of new therapies.

“The need to share and compile genomic and other health data is crucial and time-sensitive, with millions of people with rare diseases continuing to die each year—often before reaching a diagnosis. Yet we are currently missing a value framework with which to evaluate such an investment,” the authors wrote. “Federated data systems not only help us to do the right thing morally and ethically, they could also enable economic returns in the form of correcting misdiagnoses, shortening the time to a diagnosis, enabling more precise clinical trials, and providing curative treatments with long-term economic benefit.”

The paper argues that a federated data sharing system could produce an economic return on investment through savings achieved by shortening the time to a diagnosis, changes in the clinical management of patients as a result of the diagnosis being made, improvements to the cost of conducting clinical trials, as well as the personal benefits patients and their families will accrue from improved outcomes and the ability to better plan for the future.

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 Kingdom, Australia, Canada, and the United States to lead a proof of concept of such a federated data system by the summer of 2020.

Lynsey Chediak

Lynsey Chediak, lead of precision medicine and rare disease for the World Economic Forum, said, data sharing is essential to making progress in rare disease diagnosis and treatments because individual countries on their own don’t have enough people with a given condition to allow researchers to make needed advances and most collaborate across borders.

“It’s meant to be a proof of concept: that it demonstrates that it’s useful, that it provides economic value, and that it most importantly provides value to people with rare disease,” said Chediak, precision medicine and rare disease lead at World Economic Forum. “We hope that other countries, as they start to accumulate these large volumes of genomic data, will encourage an international approach like this.”