According to the newly established Global Commission to End the Diagnostic Odyssey for Children, it takes an average of five years before a rare disease patient receives the correct diagnosis — and half of those patients are children.
The multi-disciplinary commission brings together patient advocates, family members, innovators, healthcare providers, researchers and other experts worldwide. Can a melting pot of creativity, technological expertise and commitment make a difference in the lives of the millions of rare disease patients? These researchers think so.
The purpose of the Global Commission is to develop a roadmap to help the rare disease community shorten the multi-year journey to diagnosis.
The roadmap will offer recommendations tailored to address key limitations that are preventing timely diagnoses for all rare disease patients.
These include improving physicians’ resources and abilities to identify and diagnose rare disease, empowering the patient community to have a more active role in their own healthcare, and providing policy guidance to help navigate the current limitations and help achieve better outcomes for the rare disease community in general.
The Global Commission will be led by Flemming Ornskov, MD, MPH, Shire’s CEO; Simon Kos, MD; chief medical officer and senior director of worldwide health at Microsoft; and Yann Le Cam, CEO of EURORDIS.
“We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many,” Kos said in a press release. “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.
“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,” he added.
Le Cam agreed, saying there are many children around the globe “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.
“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,” Le Cam added.
The Global Commission experts will begin working this year, and expects to publish a summary of the main findings of their joint effort in 2019.
To develop the roadmap, the commission will gather input from patients, families and other advisers to gain additional insights and help drive solutions that accelerate time to diagnosis.