Slow diagnosis is all too common in the rare disease world, and Shire has forged a new partnership with Microsoft aimed at changing that. Along with patient organization alliance Eurordis, they've created a global "commission" to accelerate diagnosis and treatment.
The trio's new effort—bearing an official-sounding name, the Global Commission to End the Diagnostic Odyssey for Children—will develop “an actionable roadmap” for removing barriers to rare disease diagnosis.
The idea was born in 2017 when Shire was investigating how to break down barriers in rare disease diagnosis, CEO Flemming Ornskov said in an email interview.
“We considered how the convergence of healthcare and technology was already helping Shire drive solutions for patients. We realized we could combine our momentum with Microsoft’s previous success to develop innovative approaches to accelerate time to diagnosis,” said Ornskov, who's also co-chair of the commission.
The goals? Improve doctors’ ability to identify and diagnose patients, give patients and families a more active role, and offer high-level policy guidance. The commission is focused on children because more than half of rare diseases are pediatric disorders. The group plans to publish its work in early 2019.
One of the biggest problems for patients and their caregivers is the "diagnostic odyssey," Ornskov said, and that journey to an accurate diagnosis lasts an average of five years or more. “Patients are born and living with rare diseases every day, so the sooner the Global Commission can deliver this actionable roadmap, the sooner patients and those caring for them will be able to better handle this devastating problem," he said.
Adding the patient voice with Eurordis was important he said, to create a cross-functional, global group that can speed results through diverse perspectives and experiences.
Shire’s focus on rare disease, which now accounts for 70% of its revenues, includes many other technology initiatives such as investments in gene therapy and tailoring treatments, and working with small digital incubators as well as tech giants to develop patient-support solutions.
“Whether large or small, all of our partnerships fuel our mission to create a digitized Shire that supports patients through every step of their journey,” Ornskov said.
Other efforts in rare disease patient support include Shire’s three-year, $5 million Future Generation program begun in 2016. It has several components, including a partnership with the Paul Newman-founded SeriousFun Children's Network of camps for children with rare diseases, and on the research side, addresses the shortage of medical geneticists by giving grants through the American College for Medical Genetics and Genomics Foundation.