Shire has formed a strategic collaboration with Microsoft and EURORDIS-Rare Diseases Europe, a non-profit organisation, to minimise the time-to-diagnosis for children suffering from rare diseases.

The Global Commission to End the Diagnostic Odyssey for Children aims to address the diagnostic challenges associated with rare diseases. Statistics indicate that diagnosis of such patients takes an average of five years and only 50% of children are diagnosed accurately.

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Including multi-disciplinary experts, the commission will come up with an actionable plan to shorten the multi-year diagnostic journey, which they believe would be ‘a key to a longer, healthier life.’

The roadmap will comprise suggestions to ensure timely diagnosis, including improving a physician’s ability for identification, the more active care-based role of patients and their families, as well as high-level policy guidance for better outcomes.

Shire CEO Flemming Ornskov said: “Accelerating the time to diagnosis is critical to improving outcomes for patients and health systems.

“Our work will help to transform the lives of children living with a rare disease.”

“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.”

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The commission will start its work over the coming months and expects to publish a roadmap in early-2019 based on inputs from patients, their families and expert advisors.

Microsoft Worldwide Health chief medical officer and senior director Simon Kos said: “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.”