Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean†. (12th May 2017)

• Record Type: Journal Article
• Authors: Tardif, Jessica; Pratte, Annabelle; Laberge, Anne‐Marie
• Is Part Of: Prenatal diagnosis. Volume 38:Number 1(2018)
• Page Start: 67
• Page End: 74
• Publication Date: 2017-05-12
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5055
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: A pilot population‐based carrier screening program started in 2010 in the Saguenay–Lac‐Saint‐Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoix‐Saguenay, congenital lactic acidosis, and Andermann syndrome). Objectives: The objective of this study was to describe the experience of carrier couples identified through this program. Methods: Semi‐structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was performed to identify emerging themes. Results: Interviews were performed with 15 carrier couples (56% response rate). Carrier couples had little knowledge about the target diseases before being identified as carriers, despite pre‐test education sessions. The main motivation for screening was a recommendation by a peer who had been screened, even for those with a positive family history of one of the target conditions. Couples perceived themselves at low risk of being a carrier couple, whatever their family history. Being found to be a carrier couple was initially a shock, illustrating how ill prepared they were for such a result, but carrier couples appreciated knowing their status. Conclusion: Our results emphasize the informational needs of couples to make informed decisions and the importance of post‐test counseling for those with positive results. Our findings can inform counseling procedures in expanded carrier screening. © 2017 John Wiley & Sons, Ltd. Abstract : What's already known about this topic? Reaction of carrier couples to their result includes a phase of shock and is followed by adaptation. What does this study add? This study describes the experience of carrier couples identified through a pilot carrier screening program in the Saguenay–Lac‐Saint‐Jean region. It is the first qualitative study reporting the experience of carrier couples screened for more than one condition. It highlights the informational needs during pre‐test counseling and the importance of post‐test counseling after a carrier couple is identified. These findings can inform counseling requirements in expanded carrier screening programs.