Shire, Microsoft, and EURORDIS-Rare Diseases Europe announced an alliance to address the diagnostic challenge for patients living with a rare disease.
The Global Commission to End the Diagnostic Odyssey for Children (the Global Commission) is a multi-disciplinary group of experts that will work to make a difference in the lives of millions of children and their families. The Global Commission will develop an actionable roadmap to help the rare disease field to shorten the multi-year diagnostic journey, considered a key to a longer, healthier life.
Within its roadmap, the Global Commission will offer recommendations designed to address core barriers preventing timely diagnosis impacting all rare disease patients, of which approximately half are children, such as:
- Improving physicians' ability to identify and diagnose patients with a rare disease in order to begin care and treatment
- Empowering patients and their families to have a more active role in their health care
- Providing high-level policy guidance to help achieve better health outcomes for rare disease patients
Under the leadership of its co-chairs, Flemming Ornskov, M.D., M.P.H., Chief Executive Officer, Shire, Simon Kos, M.D., Chief Medical Officer and Senior Director, Worldwide Health, Microsoft, and Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe, the Global Commission will bring together a group of technology innovators, patient advocates, healthcare providers, researchers, family members and other experts from around the world to tackle one of the most serious and heartbreaking challenges within the rare disease space.
"As a physician with training in pediatrics, I've seen firsthand the devastating effect not having an accurate diagnosis can have on patients, their families, as well as on the health care providers working to help them. Accelerating the time to diagnosis is critical to improving outcomes for patients and health systems," said Ornskov. "This Global Commission is passionate about bringing forward new and personalized solutions in diagnostics and I'm confident our work will help to transform the lives of children living with a rare disease."
There are more than 6,000 identified rare diseases and it is estimated that rare diseases affect 300 to 350 million people worldwide. Many patients endure lifelong suffering and about half of all rare diseases begin in childhood.
The Global Commission is beginning its work in early 2018 and expects in early 2019 to publish a roadmap that encapsulates the findings of its work together. Over the course of 2018, the Global Commission will gather input from patients, their families, and other expert advisors to gain additional key insights and help drive solutions to speed the rare disease diagnosis timeline.