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 excerpt

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...

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