A collaboration between rare disease specialist Shire, patient group EURORDIS-Rare Diseases Europe and tech giant Microsoft has been established to address diagnostic challenges that accompany rare diseases.
The alliance, called the Global Commission to End the Diagnostic Odyssey for Children, will aim to provide support and guidance for patients and their families who face a difficult diagnostic process. It will also attempt to help reduce the time it takes for a conclusive diagnosis to be reached.
Globally there are around 6,000 identified rare diseases and between 300 and 350 million people affected by them, with half of this number being children. On average it takes five years before a rare disease patient receives the correct diagnosis, a lengthy process that the alliance hopes to improve.
A multi-disciplinary group of experts will work to create an actionable roadmap offering guidance and solutions to core barriers preventing timely diagnosis, enabling patients and families to take a more active role in their health care, and improving physicians’ ability to identify and diagnose patients with a rare disease.
“As a physician with training in paediatrics, 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 Shire CEO Dr Flemming Ornskov.
“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.”
Alongside Ornskov, the alliance is co-chaired by Microsoft’s chief medical officer Dr Simon Kos and EURORDIS CEO Yann Le Cam. The group will gather input from patients, families, and other experts to create an advisory roadmap, which it expects to publish at the beginning of 2019.
"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."