Microsoft, Shire Take on Rare Diseases

In the last 20 years, awareness of rare diseases has grown massively in the US due to efforts by well-organized and well-funded US rare disease patient organizations. According to the European Medicines Agency (EMA), there are more than 6,000 identified rare diseases, and it is estimated that approximately 300-350 million people across the world are affected by rare diseases, half of whom are children.
 
Shire, a global biotechnology company focused on rare diseases, has formed a strategic alliance with Microsoft, a well-known technology company, the European Organisation for Rare Diseases (EURORDIS), and Rare Diseases Europe, a rare disease patient organization in order to address the diagnostic challenges for patients living with rare diseases. This alliance has been named the “Global Commission to End the Diagnostic Odyssey for Children” and signals the arrival of tech companies into the healthcare space as they attempt to revolutionize the healthcare market, said GlobalData, a data and analytics company.
 
The aim of the organization is to address the diagnostic challenges associated with rare diseases, provide support, and shorten the time it takes for patients and their families to reach a conclusive diagnosis, as it usually takes around five years for rare disease patients to receive the correct diagnosis, and in some cases takes up to 10 years.  
 
Alessio Brunello, MSc, GlobalData Neurology & Ophthalmology Analyst commented, “This is a powerful alliance capable of developing game changing diagnostic tools and initiatives for rare disease patients, allowing  the use of optimal therapies which will present opportunities for drug developers. The accurate and early detection of diseases, as well as their differentiation from other disorders, are essential for both proper disease management and the improvement of the treatment rate.”
 
The Global Commission is a multi-disciplinary group of experts with the creativity, technological expertise, and commitment required to develop a roadmap to help the rare disease field shorten the current multi-year diagnostic journey, and to make a major difference in the lives of millions of children and their families. The roadmap, called “Odyssey,” will include recommendations to solve key problems presently standing in the way of timely diagnoses. Odyssey will be able to do that in three points: first, providing high-level policy guidance to help achieve better health outcomes for rare disease patients; second, improving physicians’ ability to identify and diagnose patients with a rare disease in order to begin care and treatment; third, to empower patients and their families to have a more active role in their health care, and provide policy guidance to governments and healthcare systems to help achieve better outcomes for rare disease patients. The Global Commission is expected to publish this roadmap in early 2019. The roadmap will include the findings of its collective work with patients, their families, and other expert advisors to help drive solutions to improve the diagnosis of rare diseases.
 
“This initiative could be the first of many alliances and partnerships in 2018, as several other tech companies also attempt to revolutionize the healthcare market,” Brunello concluded.