Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean
2017; Wiley; Volume: 38; Issue: 1 Linguagem: Inglês
10.1002/pd.5055
ISSN1097-0223
AutoresJessica Tardif, Annabelle Pratte, Anne‐Marie Laberge,
Tópico(s)Genetic Neurodegenerative Diseases
ResumoAbstract 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.
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