Rare Daily Staff

The Global Commission to End the Diagnostic Odyssey for Children, an alliance of more than 800 rare disease patient organizations, issued a set of recommendation to address the barriers to diagnosis for people living with a rare disease.

“The too-often long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and indeed the very identity of people affected by a rare disease and their families,” said Yann Le Cam, CEO of EURORDIS-Rare Diseases Europe and global commission co-chair. “This report identifies concrete policy and technical actions, mobilizing diverse actors to build on genetic and digital cutting-edge advances.”

The Global Commission’s Year One Report’s recommendations are intended to accelerate the average five years it says it takes to diagnose a rare disease today and focuses on distinct challenges that it says “technology is uniquely equipped to solve.” In 2018, the Global Commission co-chairs, Shire (now Takeda), Microsoft, and EURORDIS, formed the commission to bring together a multidisciplinary group of patient advocates, physicians, and other experts to help solve the complex challenges impacting the rare disease community.

The report’s recommendations fall into three broad categories that include empowering patients and their families, equipping frontline providers with tools for diagnosis, and the development of ways to improve the access to medical geneticists for patients who likely have a rare disease.

In its roadmap, the Global Commission also emphasizes the importance of policies for rare diseases to be recognized as an international public health priority. The policy recommendations, designed to support the broader solution, focus on centers of excellence, genetic screening, data sharing, and privacy.

“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.”

Over the past year, the Global Commission gathered input from patients, families and other expert advisors to gain key insights to guide solutions to shorten the rare disease diagnosis timeline. The roadmap’s recommendations are intended to help empower patients and their families, equip frontline providers, and increase the speed and access to medical geneticists for patients.

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.”

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