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 had developed a Polygenic Risk Score (PRS) in T2D Caucasian patients that combines data on 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 extended their genomic predictive tests to major ethnic groupsAt the end of the project, beside Caucasian (Celtic & Slavic) patients, the team had thus successfully analyzed large data of South European, South Asian and Afro-American patients, while data of Middle East and Chinese patients are now being analyzed through new partnerships. Data include geo-ethnic background, but also sex, age of onset and diabetes duration. The resulting predictive test is a meta-PRS, which combines data from 10 PRSs, and was validated on large patient cohorts. The team also developed a clinically actionable report intended to health care providers.

Achievements/Impact: The project developed tools to predict susceptibility to T2D and its vascular and renal complications, as well as individual therapeutic responsiveness.  A major accomplishment of the project is that OPTITHERA now offers direct-to-consumer (DTC) genetic health risk tests for patients diagnosed with T2D, for most ethnic groups, with an actionable report for their physicians. This precision medicine enables clinical practice to personalize health care for T2D patients and ultimately to prevent complications. A major economic impact is the reduction of the important costs associated to these diabetes 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

Completed Project
$ 583,333 / 1.5 years
Supported by CQDM through:

And by co-funding partners:

• Servier