Harnessing the power of artificial intelligence (AI), CHEO researchers have developed a groundbreaking search algorithm that identifies children and youth who may have an undiagnosed rare genetic disease and refers them for genetic testing putting an end to their diagnostic odyssey.

The ThinkRare algorithm is incredibly exciting and promising because it means we can help families find answers and get the care and support they need sooner, said Dr. Kym Boycott, Senior Scientist at the CHEO Research Institute and Chief of Genetics at CHEO. This algorithm is a game changer. Using AI to scour CHEOs 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.

Ten-year-old Antony Wistaff and hisfamily have spentcountlesshours at CHEO, callingit a second home. Antony wasbornprematurely in October 2013 and a few dayslaterunderwent emergency surgery at CHEO to place a shunt for hydrocephalus. But thatwasonly the beginning of whatwouldbecome a decade-long diagnostic journeyconsisting of more than 100 outpatientappointmentsacross six differentspecialtyclinics at CHEO, and 30 trips to the emergency department for variousreasons.

That was until recently, when 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 a test that simultaneously analyzes the more than 5,000 genes that have been associated with rare disease and is now available clinically in Ontario.

The results of the genetictestingdiscoveredthat Antony has Chung-Jansen Syndrome a rare disorderresultingfrom a pathogenic variant in the PHIP gene. At present, the syndrome has been diagnosed in only about 400 people worldwide and itexplainedmany of Antonyshealth and behavioural challenges, includinghisdevelopmentaldelays, learningdifficulties, 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, Antonys dad. This research brought a kind of peace to our house. Hadweknownthissooner, itwould have meantlessquestioning as parents, less stress, and more support becausewewould have had a cleardiagnosis for Antony. A little bit of blood and a simple test, answeredsomany questions.

To date, Think Rare, whichiscurrently operating as a researchprojectapproved by the CHEO ResearchEthicsBoard, isthree for three meaning the first three patients identified by ThinkRare and referred to genetics have received test results and been diagnosedwith a rare disease. Genetictestingisunderway for manyotherfamiliesidentified by ThinkRare.

Our goal is to flip the diagnostic care journey on itshead and start withgenetictestingearlier on the care pathway. By incorporating the ThinkRarealgorithmintoclinical care, wewillbe able to support CHEO clinicians and frontlineworkerswith the power of machine learning to find the needle in the haystack, added Dr. Boycott, whois a Tier 1 Canada Research Chair in Rare DiseasePrecisionHealth and Professor of Pediatrics at the University of Ottawa.

Work iscurrentlyunderway at CHEO to transition the ThinkRareprojectfrom researchintoclinical practice, with all the necessary patient privacymechanisms in place.

CHEO isuniquelypositioned to develop an impactfulalgorithmsuch as ThinkRarebecause of CHEOsinvestment in a robustelectronichealth record system, ourcommitment to innovation, our close collaboration betweenclinical and researchteams, and becausewe are the only pediatric healthcare centre in Eastern Ontario serving a widegeographic area. At CHEO, we have broughttogether all the necessaryelementswhenitcomes to making AI advancements in healthcare, said Dr. Jason Berman, CEO and Scientific Director, CHEO Research Institute, and Vice-PresidentResearch, CHEO.

The ThinkRareprojectwas made possible withfundingfrom the CHEO Foundation, the CHAMO Innovation Fund, and Ontario Genomics.

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Media contact:

Jennifer Ruff Director of Communications CHEO Research Institute (613) 261-3979 jruff@cheo.on.ca

About the CHEO Research Institute

The CHEO Research Institute is a global centre of excellence in pediatric research that connects talent and technology in pursuit of life-changing research for every child, youth and family in the CHEO community and beyond. The CHEO Research Institute coordinates the researchactivities of CHEO and isaffiliatedwith the University of Ottawa. At the CHEO Research Institute, discoveries inspire the best life for everychild and youth. For more information, visitcheoresearch.ca.

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World-first AI algorithm developed at CHEO leads to rare disease diagnosis for families - CHEO

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