Shire has teamed up with Microsoft and EURORDIS-Rare Diseases Europe in a strategic alliance aiming to tackle the diagnostic challenge for patients living with a rare disease.
According to the parties, the “long road to diagnosis” is key issue that affects the health, longevity and well-being for rare disease patients and their families.
The Global Commission to End the Diagnostic Odyssey for Children is a multi-disciplinary group of experts who will develop an “actionable roadmap” designed to shorten the multi-year diagnostic pathway.
Improving physicians’ ability to identify and diagnose patients with a rare disease, empowering patients and their families to have a more active role in their care, and providing high-level policy guidance to secure better health outcomes for rare disease patients will be key facets of the plan.
“As a physician with training in paediatrics, 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 Flemming Ornskov, Shire’s chief executive.
“This Global Commission is passionate about bringing forward new and personalised solutions in diagnostics and I’m confident our work will help to transform the lives of children living with a rare disease.”
The Global Commission will begin its work in early 2018, gathering input from patients, their families, and other expert advisors. Publication of the roadmap is expected early next year.
“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 Yann Le Cam, chief executive of EURORDIS-Rare Diseases Europe.
“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.”