The journey to diagnosis for a rare disease patient can be a long, arduous process – sometimes taking as long as 5 years before the condition can be treated properly.
As of this morning, a pharmaceutical company, technology goliath and rare disease advocacy organization are working to change that narrative.
Shire plc, Microsoft and EURORDIS, a European patient organization, announced a strategic alliance with the intentions of accelerating the time it takes for pediatric rare disease patients to receive the correct diagnosis.
The trio is referring to itself as The Global Commission to End the Diagnostic Odyssey for Children, and consists of experts with “the creativity, technological expertise and commitment” necessary for making a significant difference in the lives of millions of children and their families. The Global Commission will design and develop an actionable roadmap to assist the rare disease community in reducing the multi-year diagnostic journey.
The goal, of course, being providing rare disease patients with longer, healthier lives.
Global Commission co-chairs Flemming Ornskov, M.D., M.P.H., Chief Executive Officer, Shire, Simon Kos, M.D., Chief Medical Officer and Senior Director, Worldwide Health, Microsoft, and Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe will work collaboratively to create a panel of dedicated technological innovators, patient advocates, healthcare providers, researchers, family members and other experts to improve one of the rare disease community’s greatest challenges: time to diagnosis.
"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 Dr Ornskov 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."
The Global Commission has its sights set on officially beginning its work before the second half of 2018, and expects to publish a “roadmap” that summarizes the findings of its efforts in early 2019. Within the roadmap, the group will offer recommendations meant to address the “core barriers” that prevent the timely diagnosis of rare disease patients, of which an estimated half are children.
The group hopes to: improve physicians’ ability to identify and diagnose patients with a rare disease in order to initiate care and treatment; empower patients and their families to have a more active role in their health care; and provide high-level policy guidance to help achieve better health outcomes for patients.
"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.
Le Cam added, "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."
For more on efforts that are being made throughout the rare disease community to improve the road to diagnosis and treatment options, follow Rare Disease Report