Paré (centre) & CRLB-GMEL management

PHRI is proud to be the home of not only Canada’s largest research biobank, but a genetic epidemiology laboratory led by one of the most innovative scientists in the field of genetics and genomics: PHRI Senior Scientist, Guillaume Paré.

His work in polygenic risk scores (PRS) was honoured this week as among the “2023 research and innovation projects” recognized at the Hamilton Health Sciences Foundation gala this week. (PHRI Scientist Jason Roberts was also honoured for his work in cardiogenetics.)

Paré and team have been working in PRS for years now. One of their polygenic risk score studies was selected as one of American Heart Association’s top heart disease and stroke research advances of 2018.

Published in the AHA journal Circulation: Genomic and Precision Medicine, they found that developing a PRS that measures 182 variants associated with coronary artery disease may more reliably identify people at risk for early-onset coronary artery disease (EOCAD) who need aggressive preventive treatment, and that “determination of the polygenic risk component could be included in the diagnostic workup of patients.”

Current work in PRS

Some of their current work includes aiming to broaden and improve PRS offered for various diseases, and to adapt them to recent advances in genome sequencing to increase accuracy.

In March 2023, Paré and Michael Chong, Assistant Director, CRLB-GMEL, published “Identifying individuals at extreme risk of venous thromboembolism using polygenic risk scores” in Nature Genetics. 

This month, Paré and scientists at a cardiology innovation centre at University of BC published a scoping review, “Current state and future of polygenic risk scores in cardiometabolic disease” in Circulation: Genomic and Precision Medicine.

Also this month, Pare was an author of “Leveraging related health phenotypes for polygenic prediction of impulsive choice, impulsive action, and impulsive personality traits in 1534 European ancestry community adults,” in Genes, Brain and Behavior.

For a robust list of the genetic and genomics investigation done by Paré and his team, visit biomarkers and genetic research.

“PRSs have the ability to predict diseases rivaling results from routine diagnostic and prognostic tests,” says Paré, who hopes to expand this work internationally.


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