Researchers at the Children’s Hospital of Eastern Ontario (CHEO) have unveiled a groundbreaking AI algorithm designed to identify children with undiagnosed rare genetic disorders, marking a significant advancement in pediatric healthcare.
The pioneering algorithm, named ThinkRare, was developed over three years and utilizes artificial intelligence to analyze vast amounts of patient data. During a pilot project, ThinkRare analyzed nearly 260,000 patient records spanning a decade, pinpointing 15 cases of likely undiagnosed rare genetic disorders that had previously gone unnoticed.
Dr. Kym Boycott, senior scientist at the CHEO Research Institute, emphasized the importance of early identification of rare genetic diseases to prevent misdiagnosis and ensure timely access to specialized care. Without ThinkRare, children with these conditions may have faced years of uncertainty and ineffective treatments.
One success story highlighted the algorithm’s impact on the Wistaff family, whose son Antony was diagnosed with Chung-Jansen Syndrome after ThinkRare flagged him as a potential case. Antony’s diagnosis, made possible by genome sequencing facilitated by the algorithm, provided answers to his health and developmental challenges after years of medical uncertainty.
The ThinkRare algorithm not only aids in clinical diagnosis but also connects families with valuable resources and support services. Ivan Terekhov, CHEO’s director of research informatics and technology, underscored the positive impact of AI in healthcare, emphasizing that it complements rather than replaces medical professionals.
Moving forward, ThinkRare will be integrated into CHEO’s diagnostic process for current and new patients, streamlining the identification of rare genetic disorders. While CHEO may be the first to utilize this advanced diagnostic tool, Dr. Boycott expressed the team’s intention to share the algorithm freely with pediatric hospitals worldwide, demonstrating a commitment to advancing pediatric healthcare on a global scale.