Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean.

Abstract

The objective of this study was to describe the experience of carrier couples identified through this program. Semi-structured interviews were performed with carrier couples. Thematic analysis of interview transcripts was performed to identify emerging themes. 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. 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.