Genetic testing to guide therapeutic decision in diabetic patients of various ethnic backgrounds

Challenge: Type 2 diabetes (T2D) is the leading cause of cardiovascular and renal diseases. Although many treatments are available, they only partially reduce the risk of serious complications in diabetic patients. As a first step towards reducing diabetes-related morbidity and mortality, the team has developed a Polygenic Risk Score (PRS) in T2D Caucasian patients that combines with sex, age of onset and diabetes duration to better predict risks of complications. Because ethnicity and genetic variation play an important role in the development of T2D and its complications, the test would benefit from being personalized according to ethnic backgrounds.

Solution: The team proposes to extend their genomic predictive tests to major ethnic groups. The test will facilitate the prevention of complications and guide treatment similarly to what was developed for Caucasians (Celtic & Slavic) patients. Genetic variants associated with main risk factors of diabetes complications will be selected from available GWAS data. Optimization of PRS will be obtained using whole-genome genotyped T2D patients by weighting risk alleles by the effect size of their association, enhanced by genomic variants associated to geo-ethnic background, sex, age of onset and diabetes duration. The test will be adapted for Caucasians of Gallic and Hispanic origins and then to Asian, Afro-American and Hispanic populations. This new knowledge of clinical and genomic information will be introduced into electronic medical records (EMRs) to ease the implementation of personalized medicine into clinical practice.

Expected Achievements/Impact: The proposed studies will develop tools and strategies to predict susceptibility to T2D and its complications as well as individual therapeutic responsiveness. The project will also foster the development of a genomic-based platform and EMRs that integrate clinical and genetic information in order to improve the physicians’ practice. Besides providing tools for personalized health care to diabetic patients, the project will have major economic impacts, allowing to reduce additional costs related to T2D complications.
























Principal Investigator:

Pavel Hamet
Centre hospitalier de l’Université de Montréal (CHUM)


Johanne Tremblay
Centre hospitalier de l’Université de Montréal (CHUM)

Pierre Dumas 

Patrick Bergeron

Ongoing Project
$ 583,333 / 1.5 years
Supported by CQDM through:
• MEIAnd by co-funding partners:• OPTI-THERA
• Servier