CHEO’s ThinkRare algorithm goes national

OTTAWA – The CHEO Research Institute’s world-first pediatric AI algorithm, ThinkRare, will soon be used in other pediatric centres across Canada – marking one of the first national deployments of a real-time, clinically embedded AI tool in pediatric care.

The CHEO Research Institute is now collaborating with McMaster Children’s Hospital, which is finalizing external validation and local integration of ThinkRare, and with Alberta Children’s Hospital and Stollery Children’s Hospital, which are both at the implementation planning phase.

With plans for further expansion, this national rollout represents a significant advancement in Canada’s leadership in responsible, practical AI adoption in clinical environments. Unlike many AI tools that remain in research settings, ThinkRare is already embedded in real-time clinical workflows at CHEO – and is now poised to do so nationwide.

“ThinkRare shows what happens when clinicians, data scientists, and families come together to build meaningful, responsible AI,” said Dr. Jason Berman, CEO and scientific director of the CHEO Research Institute, and vice-president of research at CHEO. “It’s remarkable success at CHEO – and now its national expansion – means more children and families across Canada will get the answers they need sooner.”

Developed at the CHEO Research Institute, ThinkRare continuously scans clinical information within CHEO’s electronic medical record (EMR) system to identify children who may have an undiagnosed rare genetic condition. When a potential case is detected, the algorithm immediately alerts the care team, recommending a review and possible referral for genetic testing.

Since its implementation, 41 children identified by ThinkRare have been referred to CHEO Genetics for genetic testing. Of those with results, 70% have been diagnosed with a rare disease, an incredibly successful diagnostic rate, saving families years searching for clarity.

Many rare diseases present with subtle or overlapping symptoms, with visits to multiple specialists in many different clinics, making them difficult to detect early. ThinkRare acts as a continuous, automated second set of eyes looking out for pre-determined patterns and flags —supporting clinicians to connect the dots and reducing the chance that important diagnostic clues go unnoticed.

“Rare diseases can often hide in plain sight. ThinkRare helps identify children with a potential undiagnosed rare disease who might otherwise spend years without being referred for genetic testing,” said Dr. Kym Boycott (pictured), senior scientist at the CHEO Research Institute, chief of genetics at CHEO, and Canada Research Chair in Rare Disease Precision Health. “Scaling this AI tool across Canada will help shorten the diagnostic odyssey for countless families, which was my ultimate goal when I first envisioned the impact of ThinkRare.”

Implementing AI across diverse hospital systems requires careful technical adaptation, governance, and safety assurance. It also takes support from partners like the HHSC CREATE team, who provided developer support to get the ThinkRare application ready for deployment at sites outside of CHEO.

“Moving ThinkRare from a single site to a national platform is both technically complex and deeply rewarding,” said Ivan Terekhov, director of research informatics, AI, and technology at the CHEO Research Institute. “Every hospital works differently. Our team at CHEO is working with these partners to ensure that ThinkRare remains safe, transparent, and flexible as it integrates into each new environment.”

ThinkRare’s success demonstrates what can be achieved when AI is developed collaboratively and embedded directly into clinical practice. By supporting earlier identification, referral, and diagnosis, ThinkRare offers families clarity faster, and supports health systems by reducing repeat visits, tests, and prolonged uncertainty. But to continue expansion to more institutes across Canada, further funding and support is needed.

ThinkRare is all about helping families find answers sooner. With further national expansion, children across Canada stand to benefit from earlier diagnoses, more informed care pathways and supports, and a shorter diagnostic journey.