CCMG & Garrod 2026 Joint Conference

June 7-10, 2026

Hotel Château-Bromont

Bromont, Quebec

Rapid Genomic Testing: Results from the PRAGMatIQ Study

Speakers: Dr. Anne-Marie Laberge and Dr. Jacques Michaud

This presentation will describe the Pediatric RApid GenoMIcs in Quebec (PRAGMatIQ) study, its main findings and implications for practice. PRAGMatIQ aimed to offer rapid clinical genome sequencing (rGS) to acutely-ill children in the province of Quebec and to assess the feasibility and relevance of its implementation in the Quebec health care system. Patients aged 18 or younger, admitted to one of Quebec’s four pediatric university hospitals (CHUQ, CHUS, CHUSJ, MUHC) and suspected of having a monogenic condition by a medical geneticist, were eligible. In total, 830 patients, with a mean age of 2.5 years, along with their parents, were recruited, generating 2379 genomes. The overall diagnostic yield was 35%, with an additional 18% of cases yielding inconclusive results. The median turnaround time was 24 days from enrollment to report, and 13 days from receipt of DNA samples by the Centre Québécois de Génomique Clinique to the finalization of clinical reports, indicating a median pre-analytical phase of 9 days. Clinical utility based on chart review three months after result disclosure showed clinical impact in 68% of those with a diagnosis and a familial impact in 22% of those with a diagnosis. Clinicians underestimated parental expectations about the impacts of rGS, but estimated their understanding accurately. Three months after result disclosure, parents were in general satisfied and reported positive impacts. A subgroup of parents did not recall receiving results: recall was associated with lower education levels and lower initial understanding of rGS, but not with any other characteristics of the patient or result. Long-read genome sequencing was also done for undiagnosed patients following short-read genome sequencing, and interpretation of these long-read data is ongoing. Overall, study outcomes led to recommendations to the Ministry of Health and Social Services and Santé Québec regarding the implementation of this diagnostic test in the Quebec healthcare system.

At the end of the session, participants will be able to:

  • Describe the diagnostic yield and clinical utility of rapid genomic testing for children hospitalized for acute care
  • Appreciate the experience and attitudes of parents and health professionals around rapid genomic testing
  • Recognize barriers and facilitators to the implementation of rapid genomic testing in clinical practice

Target Audience: Clinical Geneticists, Laboratory Geneticists , Genetic Counsellors , Trainees, Molecular Pathologists
CanMEDS Roles: Medical Expert (the integrating role), Scholar

Dr Laberge is a Medical Geneticist and Head of the Division of Medical Genetics at CHU Ste-Justine, and Professor in the Department of Pediatrics and in the Department of Social and Preventive Medicine at the School of Public Health at the Université de Montréal. She completed her MD and residency in Medical Genetics at Université de Montréal. She has an MPH in Public Health Genetics and a PhD in Public Health Genetics, both at the University of Washington. Dr Laberge is currently Chair of the Quebec Advisory Committee on Newborn Screening, of the Quebec Molecular Diagnosis Network Incidental Findings Working Group and of the Quebec Central Ethics Committee on Medically Assisted Reproduction. Her current research includes assessments of carrier screening programs in Quebec and studies on the clinical utility, patient/parent perspectives and clinician perspectives of genomic sequencing in pediatric care.

Dr. Michaud is a Professor of Pediatrics and Neurosciences at the Université de Montréal and Director of the CHU Sainte-Justine Azrieli Research Center. His clinical and research interests focus on the genetics of neurodevelopmental disorders. In particular, his laboratory uses genomic approaches to identify new genes involved in these conditions. His team has discovered more than 25 genes associated with these disorders and was among the first to demonstrate that spontaneous point mutations—those not inherited from the parents—are a major cause of intellectual disability. His group also investigates the function of some of these genes in model systems, with the goal of developing therapeutic strategies.

Dr. Michaud is also the Medical Director of the Quebec Clinical Genomics Center (CQGC), which is mandated to provide genomic sequencing for the entire Quebec healthcare system. As part of the CQGC, he leads research projects aimed at defining optimal approaches for integrating genomics into clinical care pathways.

Event Timeslots (1)

Day 2
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Bromont ABC - Speakers: Dr. Anne-Marie Laberge and Dr. Jacques Michaud