The words: Ending the Diagnostic Odyssey for Children with a Rare Disease with a dotted line image as a background
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It takes an average of 5 years to diagnose a child with a rare disease.

This needs to change.

We brought the rare disease and technology communities together to help solve this problem.

Here are our recommendations.

In 2018, Takeda, Microsoft, and EURORDIS-Rare Diseases Europe joined forces to launch the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. The Global Commission is a multidisciplinary group of experts from around the world who have brought their creativity, technological expertise, and passion to accelerate the time to diagnosis.

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The Challenge

When it comes to a child with a rare disease, the search for a diagnosis can turn into an odyssey. Too many families around the world are bounced around from physician to specialist and back again only to receive multiple misdiagnoses.

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Recommended Solutions

We have developed actionable recommendations to help accelerate the time it takes to diagnose a rare disease. Many of our recommendations address distinct challenges that technology is uniquely equipped to solve.

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Technology Pilot Programs

The rare disease community needs proof-of-concept projects to drive progress in shortening time to diagnosis. The Global Commission Members are supporting three pilot projects that both bring to life the solution ideas outlined in the report and lend themselves to near term scale.

Yellow background with black text that reads Pilot 1: Multifactorial Machine Learning to Recognize Symptom Patterns Yellow background with black text that reads: Enable Collaboration Tools for Intelligent Triage and Clinical Geneticist Virtual Panel Consultation Yellow background with black text that reads: Explore a Blockchain-based Patient Registry and Rare Disease Passport
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Global Policy

Rare diseases must be recognized as an international public health priority. The Commission advocates establishing policies to improve efficiency, reduce costs, and increase patient access in four key areas to support the successful implementation of the report’s recommendations.

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The Path Forward

The Global Commission’s work will continue beyond the publication of this report. As rare disease champions, Commission members are committed to making sure our recommendations to end the diagnostic odyssey spark global change across the rare disease field to improve the lives of children.

Over the coming year, the Global Commission will focus on three areas:

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Implementing technology-based pilot projects:

Developing a proof-of-concept for the technology solutions we have proposed is a top priority. By starting in a few defined geographies, the Global Commission will learn important lessons that will guide how to scale these innovations and bring them to other countries.

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Leveraging technology to overcome barriers in lower-income countries:

Families searching for a diagnosis in developing countries often confront the challenges of weak health systems, lack of specialists and limited access to care, especially if they live in remote communities – factors which make it extremely difficult to identify rare diseases. By helping countries harness technology, the Global Commission hopes to be able to bypass these common barriers so that frontline providers can offer much needed diagnostic tools and resources.

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Measuring progress:

The Global Commission’s goal is that this report will become a roadmap for the rare disease community and that their recommendations to end the diagnostic odyssey will be implemented by patients and their families, frontline providers, specialists, hospital systems, and policy makers. The Commission is developing a framework to track actions taken following their report and look forward to sharing progress in 2020.