The Global Commission aims to inspire concerted action and mobilize stakeholders to work collaboratively toward a shared ambition of accelerating the time it takes to diagnose a rare disease.

Diagnostic Case Study Compendium

Framework to Guide Action in Accelerating Diagnosis

In May 2024 the Global Commission announced the first iteration of a framework to support global, regional, and national efforts to end the diagnostic odyssey. 

To bring the framework to life, the Global Commission is assembling a compendium of case studies with the intent to showcase innovative efforts to accelerate diagnosis.

We aim to continue to add to this resource compendium over time. Please check back regularly for new updates or submit a case study for consideration at any time.

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Case Study: UTOPIA (Unlocking Treatment Options Personalized In-Time Access)

Pillar(s): Equipping Providers

Country(ies): Australia and Singapore

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Program Overview

In 2022, The Rare Care Centre at Perth Children’s Hospital in Western Australia and KK Hospital in Singapore co-designed a digital platform to generate a semi-automated summary of a patient’s condition called UTOPIA (Unlocking Treatment Options Personalized In-Time Access). UTOPIA’s power is the ability to help determine the care a child needs even if a diagnosis has not been confirmed – streamlining the care pathway during the lengthy diagnostic journey. UTOPIA also advances equity by enabling children without access to more advanced diagnostics to begin receiving the care they need. Based on an individual’s clinical features (phenotype), the platform deploys a wide range of artificial intelligence approaches for analysis, including large language models and new concept recognition, which is more accurate, faster, and less costly than other AI approaches. The information generated is then filtered against large data sets of diseases. Medical experts review the output and produce a patient profile, including the likely trajectory of the disease’s evolution and how it may affect the child physically and behaviorally.
Photo credit to Perth Children's Hospital Foundation and Kylie Plunkett Photography
  • Halved the time to develop personalized care plans.
  • Implemented in Australia and Singapore, guiding care for approximately 180 patients.
  • Families report UTOPIA-generated reports as the first tailored plans connecting them to care across multiple systems.
  • Formal evaluation of UTOPIA’s value is in progress.
  • Capacity to integrate digital tools into clinical workflow.
  • Partnerships across institutions for agility.
  • Collaboration with patients, families, and health providers.
  • Inclusion of underrepresented groups in datasets.
  • Understanding of regional health systems.
  • Crowdsourcing and partnering with experts to optimize AI for healthcare transformation.
  • Understand the healthcare system before introducing new tools.
  • Regional partnerships encourage efficient implementation.
  • Tools for physicians should also benefit patients and families.
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The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease is an association composed of a diverse group of organizations and individuals committed to shortening the time for an accurate diagnosis for all children with rare diseases. The views expressed herein are solely those of the Commission and do not represent any individual, co-chair, or member organization’s views or opinions.