Alliance aims to shorten the often multi-year journey that patients and families endure before being diagnosed with a rare disease. On average, it takes 5 years before a rare disease patient, of which approximately half are children, receives the correct diagnosis
Shire, Microsoft and EURORDIS-Rare Diseases Europe announced a strategic alliance to address the diagnostic challenge for patients living with a rare disease. The long road to diagnosis is one of the most important issues affecting the health, longevity and well-being for rare disease patients and their families.
The Global Commission to End the Diagnostic Odyssey for Children ("the Global Commission") is a multi-disciplinary group of experts with the creativity, technological expertise and commitment required to make a major 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 dedicated 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 first hand 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.
"We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many. 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," said Kos. "Microsoft is committed to this mission and I believe the Global Commission's wide range of expertise, along with the infusion of technology, will change the state of rare disease diagnosis."
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.
"Today, many children around the world are living with a rare disease that remains either undiagnosed or misdiagnosed. This can delay proper care and treatment and cause isolation, discrimination, social exclusion, and also contributes to a waste in human resources" said Le Cam. "We are excited to begin collaborating with such a distinguished and diverse group of experts and believe together we can facilitate and accelerate time to diagnosis helping families around the world."