Global Commission To End The Diagnostic Odyssey For Children With A Rare Disease

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease was created in collaboration by EURORDIS, Takeda, and Microsoft. The purpose of the Global Commission is to establish a roadmap for the rare disease field that focuses on solutions to core barriers preventing timely diagnosis for all rare diseases – with an emphasis on those affecting children. The Global Commission brings together representatives from multiple sectors to provide diverse perspectives on rare disease diagnostics.

Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe is a Global Commission Co-Chair, along with Wolfram Nothaft, M.D., Chief Medical Officer of Takeda and Simon Kos, M.D., Chief Medical Officer and Senior Director, Microsoft Worldwide Health.

The Global Commission officially shared its actionable roadmap and pilot projects in a series of three global launch events in New York, Brussels and Beijing during February of 2019. The roadmap’s recommendations can be mapped back to three solution pathways:

1. Empowering patients and families: Create opportunities to develop tools for caregivers to connect seemingly unrelated symptoms, inquire about additional testing and work together with physicians to achieve a correct diagnosis.
2. Equipping first-line providers: Examine ways to equip physicians with the knowledge and tools to quickly and effectively identify patients who may have a rare disease and take appropriate action through solutions such as machine learning technology, expert-level guidance and genetic testing opportunities.
3. Reimagining the genetic consultation: Identify innovative ways to enable medical geneticists to see priority patients more quickly, such as standardizing reporting methods and utilizing telemedicine for increased access to more patients.

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