Precision population screening for rare genetic diseases in Quebec: a proof of concept benefiting individuals from Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte-Nord

Status Ongoing
Start date 2026
Location Quebec
Researcher Bouchard, Luigi
Associated institution CIUSSS Saguenay-Lac-Saint-Jean and Université de Sherbrooke
Summary

Some rare genetic diseases are more common in the Saguenay–Lac-Saint-Jean, Charlevoix, and Haute-Côte-Nord regions because of their unique population history. For several years, a carrier screening program has allowed people with ancestry from these regions to learn whether they carry genetic variants that could be passed on to their children. This project aims to expand that program by including additional rare genetic diseases that occur more frequently in these populations. Researchers will develop and validate a new genetic test capable of detecting multiple disease-associated variants at the same time in a rapid, reliable, and cost-effective manner. Data and biological samples from CARTaGENE participants will be used to help verify the accuracy of the test. The project will also assess public acceptance of the expanded screening approach. Ultimately, this work could provide more individuals and families with access to valuable genetic information for family planning and help prevent the transmission of serious inherited diseases in Quebec.

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