DéPHIx project: development and implementation of a pharmacogenetic test in a specialized hospital clinic (proof of concept)

Status Ongoing
Start date 2024
Location Quebec
Researcher Tremblay, Karine
Associated institution CIUSSS Saguenay-Lac-Saint-Jean and Université de Sherbrooke
Summary

The DéPHIx Project aims to develop and introduce a pharmacogenetic test in hospital settings to guide the safe use of thiopurine medications. Some genetic variants in the TPMT and NUDT15 genes can prevent the body from properly breaking down these drugs, which may lead to serious side effects. Using population‑level genetic data from CARTaGENE and international clinical guidelines, the research team identified the most relevant variants for the Québec population. A specialized test will be developed according to provincial standards and validated in clinical practice. Once implemented, this test will help hospitals offer safer, more personalized treatment for patients who are prescribed thiopurine‑based immunosuppressants.

Themes
  • Genetics and genomics
  • Public health and epidemiology
Data types
  • Biological samples
  • Genetic data