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
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.
Authors
- Marie‐Jacqueline Thomas
- Doria Grimard
- Josianne Leblanc
- Annabelle Pratte
- Carol‐Ann Fortin (ORCID: https://orcid.org/0000-0002-7599-4228)
- Simon Girard (ORCID: https://orcid.org/0000-0002-4089-2280)
- Luigi Bouchard (ORCID: https://orcid.org/0000-0002-7852-0722)
- Tania Cruz Mariño (ORCID: https://orcid.org/0000-0001-9598-6463)
- Jean Mathieu (ORCID: https://orcid.org/0000-0002-2597-9708)
- Josée Villeneuve
- Claudia Moreau (ORCID: https://orcid.org/0000-0002-1480-3045)
- Karine Truchon
- Mathieu Desmeules
- Jessica Tardif (ORCID: https://orcid.org/0000-0002-3254-8762)
- Mélanie Côté-Richer
Institutions
- Université du Québec à Chicoutimi (CA)
- Université de Sherbrooke (CA)
- Jewish General Hospital (CA)
- Centre Hospitalier Universitaire de Sherbrooke (CA)
- Association de Recherche en Soins Infirmiers (FR)
- Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-Jean (CA)
- Université Laval (CA)
- Université de Montréal (CA)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103435
- Citations
- 4
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 6.07
Funders
- Fondation du Grand défi Pierre Lavoie