This series is for genetics health professionals led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators. The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.
The Can-GARD/CCMG Leading Strand Series is a self-approved group learning activity (Section 1) as defined by the Maintenance of Certification Program of the Royal College of Physicians and Surgeons of Canada.
We are pleased to share that as of the 2026/2027 season, the Garrod Association will be providing two presentations per season.
To register, click the button below or go to: https://us06web.zoom.us/webinar/register/WN_e2yO6xnsSK2v70BLslqwjA
2025-2026 Leading Strand Series:
Friday December 12, 2025 at 12:30pm – 1:30pm ET*
*Please note the later time of 12:30pm ET.
ThinkRare: Harnessing AI for the Early Identification of Patients with Undiagnosed Rare Genetic Diseases
Improving the identification and diagnosis of rare genetic diseases (RGD) is recognized as a global challenge, as patients often face a long “diagnostic odyssey” due to limited physician awareness and delayed referrals for genetic testing. In response to the Global Commission’s call to leverage technology, we developed an AI-driven, rule-based algorithm to search electronic medical records and flag potential undiagnosed RGD patients for referral to genetics. By validating results through medical record review and tracking subsequent diagnoses, this approach aims to shorten diagnostic delays, enhance patient care, and improve outcomes for individuals and families affected by RGDs.
Learning Objectives:
- Describe AI approaches to identify undiagnosed rare genetic disease patients in electronic health records.
- Discuss lessons learned through development of the ThinkRare algorithm at CHEO.
- Examine the potential impact of ThinkRare on Genetics and Non-Genetics clinicians.
Speaker: Dr. Kym Boycott
Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, a Senior Scientist at the CHEO Research Institute, and holds a Tier 1 Canada Research Chair in Rare Disease Precision Health. She leads the national Care4Rare Canada Consortium, Rare Disease Models and Mechanisms Network, and the All for One Precision Health Initiative, integrating genomic, other –omics, data sharing, and model systems to improve our understanding of rare disease.
