CHEO Developed AI Algorithm Leads to Rare Disease Diagnosis

Rare Daily Staff

Canada’s CHEO Research Institute has developed the ThinkRare algorithm to use artificial intelligence to identify children who may have an undiagnosed rare genetic disease and refers them for genetic testing in the hopes of ending their diagnostic odyssey.

“This algorithm is a game changer,” said Kym Boycott, senior scientist at the CHEO Research Institute and chief of genetics at CHEO. “Using AI to scour CHEO’s electronic health record based on set criteria, ThinkRare can accurately identify kids who may have an undiagnosed rare genetic disease and refer them to our clinic—something that may have never happened without it.”

One example of how the ThinkRare algorithm led to a diagnosis is the case of Antony Wistaff. His family had come to call CHEO a second home because of the long hours they spent there. Antony was born prematurely in October 2013 and days later underwent emergency surgery at CHEO to place a shunt for hydrocephalus. Since then, he and his family have been on a decade-long diagnostic journey that involved 100 outpatient appointments across six different specialty clinics at CHEO, and 30 trips to the emergency department for various reasons.

The ThinkRare algorithm identified Antony as potentially having an undiagnosed rare genetic disease and flagged him for a referral to receive genome-wide sequencing testing. The results of the genetic testing discovered that Antony has Chung-Jansen Syndrome – a rare disorder resulting from a pathogenic variant in the PHIP gene.

The syndrome has been diagnosed in only about 400 people worldwide and it explained many of Antony’s health and behavioral challenges, including his developmental delays, learning difficulties, and large head size.

“When we found out that Antony was diagnosed with Chung-Jansen Syndrome, it answered so many questions for our family,” said Georges Wistaff, Antony’s dad. “This research brought a kind of peace to our house. Had we known this sooner, it would have meant less questioning as parents, less stress, and more support because we would have had a clear diagnosis for Antony. A little bit of blood and a simple test, answered so many questions.”

ThinkRare, which is currently operating as a research project, has been used to refer three patients for genetic testing, all of whom have subsequently been diagnosed with a rare disease. Work is currently underway at CHEO to transition the ThinkRare project from research into clinical practice.

Photo: Wistaff family