In the quest to provide timely and accurate care for children with rare diseases, the digital platform Unlocking Treatment Options Personalized In-Time Access (UTOPIA) stands out as a beacon of hope. Developed by The Rare Care Centre at Perth Children’s Hospital in Western Australia and KK Hospital in Singapore in 2022, UTOPIA is a game-changer in equipping primary and specialty care providers with the tools to offer personalized care plans for children, even in the absence of a confirmed diagnosis.
A Challenge Overcome by Innovation
For families navigating the complex world of rare diseases, the journey to a diagnosis can be long and uncertain. Often, those living with a suspected rare disease can spend an average of 5 years searching for a diagnosis, and for many children, the diagnostic odyssey will ultimately be futile, with more than 50% not receiving a molecular diagnosis.
UTOPIA addresses this challenge head-on by utilizing AI, including large language models and new concept recognition, to analyze an individual’s clinical features (phenotype) and, in some cases, bridge the gap in lack of access to full genome sequencing. The analysis generated by UTOPIA is then filtered against large disease data sets and reviewed by medical experts to produce a patient profile, which includes the potential trajectory of a disease and how it could manifest externally.
For instance, the presence of cerebral palsy, heart abnormalities, and hearing loss in a child strongly suggests a rare genetic disease. UTOPIA utilizes knowledge of these conditions and their interactions over time to develop tailored plans for health, education, and social services—even when the specific genetic cause is unidentified. This innovative approach not only reduces the disease burden on children and their families before a precise diagnosis can be made, but also ensures that patients receive the individualized care they need quickly.
Real-World Impact
Since its inception in Australia (Rare Care Centre, Perth Children’s Hospital) and Singapore (SingHealth, the KK Hospital for Women and Children), UTOPIA has significantly reduced the resources and cut in half the time required to develop personalized care plans, demonstrating its potential to transform the healthcare landscape.
Of recent, the Rare Care Centre in Australia implemented UTOPIA for daily use in patient clinical care, and as of July 2024, around 180 patients have been provided with personalized treatment plans. In Singapore, the digital platform has been embraced nationwide to study the progression of a group of rare diseases known as RASopathies and to enhance the care for those affected by these conditions. UTOPIA is also currently in the process of being incorporated into Genomics 4 Kids in ASEAN (G4K), previously known as BRIDGE-ASEAN, which is a collaborative program across multiple Southeast Asian countries that aims to improve genomic diagnosis and treatment for children with rare diseases.
With ongoing adoption across public health systems in multiple countries, UTOPIA continues to evolve, integrating more datasets and refining its algorithms.
What Can We Learn from UTOPIA’s Success?
UTOPIA’s success lies in the design team’s grasp of regional health systems, as well as their collaborative efforts with varying experts and institutions to optimize digital tools, increase patient representation in data sets and swiftly ensure patient needs are met. While a formal evaluation of UTOPIA’s value to both patients and clinicians is in progress, the team behind the digital platform has pinpointed the following learnings that will improve the integration of new tools within the medical field:
- Develop a solid understanding of the health care system before introducing a new tool. UTOPIA was designed with a deep knowledge of the nuances of the Western Australian and Singaporean health systems where it would be tested.
- Regional partnerships encourage more efficient implementation. The UTOPIA team partnered with different health jurisdictions, each with different strengths, which led to implementing UTOPIA more quickly across different sites.
- A tool intended for physicians should also have value for patients and families – and vice versa. The UTOPIA team was intentional in designing ways for patients and families to provide their information and generating reports that patients and families could easily understand.
UTOPIA’s journey is far from over. As the team behind the digital platform looks to the future, their hope is to apply learnings from their model as they aim to reach even more regions and a broader spectrum of diseases.
Learn More and Add to Our Resource Compendium
As part of our renewed to end the diagnostic odyssey for children with a rare disease, the Global Commission encourages you to take the learnings from UTOPIA and adapt them for your own use. Check out the full UTOPIA case study here to gain even more insight into how the digital platform works.
If you are interested in submitting your own case study to share your experiences in navigating the diagnostic odyssey, please e-mail it to info@globalrarediseasecommission.com.
