In 2018, Takeda, Microsoft, and EURORDIS-Rare Diseases Europe joined forces to launch the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. The Global Commission is a multidisciplinary group of experts from around the world who have brought their creativity, technological expertise, and passion to accelerate the time to diagnosis.
Read a letter from the co-chairs
When it comes to a child with a rare disease, the search for a diagnosis can turn into an odyssey. Too many families around the world are bounced around from physician to specialist and back again only to receive multiple misdiagnoses.
Rare diseases must be recognized as an international public health priority. The Commission advocates establishing policies to improve efficiency, reduce costs, and increase patient access in four key areas to support the successful implementation of the report’s recommendations.
The Path Forward
The Global Commission’s work will continue beyond the publication of this report. As rare disease champions, Commission members are committed to making sure our recommendations to end the diagnostic odyssey spark global change across the rare disease field to improve the lives of children.
Over the coming year, we will focus on three areas:
Implementing technology-based pilot projects
Developing a proof-of-concept for the technology solutions we have proposed is a top priority. By starting in a few defined geographies, we will learn important lessons that will guide how to scale these innovations and bring them to other countries.
Leveraging technology to overcome barriers in lower-income countries
Families searching for a diagnosis in developing countries often confront the challenges of weak health systems, lack of specialists and limited access to care, especially if they live in remote communities – factors which make it extremely difficult to identify rare diseases. By helping countries harness technology, we hope they will be able to bypass these common barriers so that frontline providers can offer much needed diagnostic tools and resources.
Measuring our progress
Our goal is that this report will become a roadmap for the rare disease community and that our recommendations to end the diagnostic odyssey will be implemented by patients and their families, frontline providers, specialists, hospital systems, and policy makers. We are developing a framework to track actions taken following this report and look forward to sharing progress in 2020.