A new initiative has been jointly launched by Shire, Microsoft and the patients’ advocacy Eurordis-Rare Diseases Europe in order to accelerate diagnosis for children with rare diseases, a process that could now require up to five years to reach complete.
The “Global Commission to End the Diagnostic Odyssey for Children” (“the Global Commission”) is a strategic alliance aiming at improving the quality of the journey children and their parents living with a rare disease have to experience: it groups multi-disciplinary experts – among which are technology innovators, patient advocates, healthcare providers, researchers, family members and others – called to develop an actionable roadmap to help shorten the multi-year diagnostic journey. 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 goals of the Global Commission
The Commission will address new recommendations focusing on core barriers preventing timely diagnosis. A particular attention will be paid to 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 and providing high-level policy guidance to help achieve better health outcomes.
The Commission will be co-chaired by Flemming Ornskov (Chief Executive Officer, Shire), Simon Kos (Chief Medical Officer and Senior Director, Worldwide Health, Microsoft) and Yann Le Cam (Chief Executive Officer, Eurordis-Rare Diseases Europe). “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.
The first roadmap from the Global Commission is expected to be published in early 2019, based on the inputs gathered since early 2018. ”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.