Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases in a population with a founder effect in Quebec, Canada.

ABSTRACT:

Purpose

The Saguenay-Lac-Saint-Jean, Haute-Côte-Nord, and Charlevoix regions in Canada have a high prevalence of 4 autosomal recessive diseases with high morbidity and/or reduced life expectancy. As a result, a carrier screening program (CSP) was developed in 2010 and has been ongoing since. The program's purpose is to provide information and carrier screening for individuals having a higher probability to have an affected child to allow for informed decision making regarding reproductive choices. This publication provides an overview of the CSP, shares its results, and discusses the growing needs for expanding genetic testing and counseling.

Methods

In 2018, the CSP transitioned from a regional to a provincially available program, supported by an innovative home self-sampli

SUBMITTER: Fortin CA 

PROVIDER: S-EPMC12206014 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature