Successes of an innovative population-based carrier screening program for 4 prevalent recessive hereditary diseases...

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.

In 2018, the CSP transitioned from a regional to a provincially available program, supported by an innovative home self-sampling kit that can be requested online and returned by mail for analysis. For the purpose of this study, CSP data from 2010 to 2022 were extracted and analyzed.

The CSP has shown high acceptability. In total, 20,604 participants have been tested, identifying 3578 carriers of at least 1 condition who received genetic counseling. Carrier couples for the same condition (n = 116) were offered a subsequent appointment in a genetics clinic to further discuss the result, its potential implications, and available reproductive options. The heterozygote frequencies for the tested conditions ranged from 1 in 18 to 1 in 28.

The relatively inexpensive method could be applied to other populations with a high prevalence of certain autosomal recessive diseases. Given the program's results, we must consider adding the screening of other prevalent recessive conditions to the CSP.