Rare Daily Staff

Rare disease drugmaker Shire, Microsoft, and the rare disease patient organization Eurodis-Rare Diseases Europe have formed The Global Commission to End the Diagnostic Odyssey for Children, a strategic alliance to address the diagnostic challenge for patients living with a rare disease.

The Global Commission is a multi-disciplinary group of experts who will develop an actionable roadmap to help the rare disease field to shorten the multi-year diagnostic journey.

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.

The roadmap is expected to include way to improving physicians’ ability to identify and diagnose patients with a rare disease, ways to empowering patients and their families to have a more active role in their healthcare, and provide high-level policy guidance to help achieve better health outcomes for rare disease patients

Shire CEO Flemming Ornskov, Microsoft Chief Medical Officer Simon Kos, and Eurodis CEO Yann Le Cam will serve as co-chairs of the Global Commission and will bring together a group of technology innovators, patient advocates, healthcare providers, researchers, family members and other experts from around the world to tackle the challenge.

“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,” said Ornskov. “Accelerating the time to diagnosis is critical to improving outcomes for patients and health systems.” 

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.

“We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many,” said Kos. “We’re seeking innovative ways to integrate emerging technologies into our efforts, which will play a critical role as we strive to impact the diagnosis journey.”

February 20, 2018
Photo: Shire CEO Flemming Ornskov