EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay in diagnosing rare diseases.
Patients with rare diseases such as Friedreich’s ataxia (FA), half of them children, have to wait an average of five years before getting a diagnosis. This delay is one of the major contributors for patients’ impaired health, longevity, and well-being, as well as their families.
The newly established commission is made up of a multi-disciplinary group of experts with different backgrounds — technology innovators, patient advocates, healthcare providers and researchers — together with patients and family members who will recommend new strategies to shorten the multi-year diagnostic journey faced by rare disease patients.
The new strategies will hopefully improve the ability of physicians to promptly identify and diagnose a rare disease like FA so that patients can undergo immediate therapies when they are available and/or appropriate counseling.
These strategies may also lead to high-level policy guidance for rare diseases. The new measures aim to give a voice to patients and their families concerning their healthcare.
“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 healthcare providers working to help them. Accelerating the time to diagnosis is critical to improving outcomes for patients and health systems,” Flemming Ornskov, MD, one of the global commission’s co-chairs and CEO of Shire, said in a press release.
“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,” Ornskov added.
The commission began its work earlier this year; the goal is to have guidelines in place at the start of 2019. This year, the global commission members will gather input from all relevant parties to develop solutions that will speed rare disease diagnoses.
Other co-chairs include Simon Kos, MD, chief medical officer and senior director of worldwide health for Microsoft, and Yann Le Cam, CEO of EURORDIS-Rare Diseases Europe.
“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,” Kos said.
“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 said 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,” Le Cam said. “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.”
Shire is a leading glocal biotech focused on rare diseases and EURORDIS-Rare Diseases Europe is a nongovernmental organization dedicated to improving the quality of life of all people living with rare diseases in Europe.