Global Commission Releases Plan for Shortening Rare Disease Diagnostic Odyssey

The report laid out a set of pilot programs that include multifactorial machine learning to recognize symptom patterns, collaboration tools for “intelligent triage” and clinical geneticist virtual panel consultation, and developing a secure patient registry and rare disease passport that may use emerging technologies like blockchain.

“We believe that technology provides an unheralded opportunity to help overcome the barrier of rare, and unfortunately, ‘rare’ often means ‘off the radar,'” said Simon Kos, chief medical officer and senior director of Microsoft Worldwide Health and Global Commission co-chair. “Many of our recommendations address distinct challenges within rare disease that technology is uniquely equipped to solve.”