Parents' experiences with requesting carrier testing for their unaffected children.

Abstract

International guidelines generally recommend delaying genetic carrier testing in children until the child reaches the age of majority or is mature enough to be involved in the decision. Several studies have shown that carrier testing of children does occur in some instances, particularly in siblings of a child affected with a genetic condition. However, little research has explored parents' experiences with the testing process, the impact of knowing a child's carrier status, and whether parents communicate carrier information to their children. Semistructured interviews were conducted with 33 parents of children who had one of three genetic conditions (cystic fibrosis, hemophilia, and Duchenne muscular dystrophy). Inductive content analysis was used to analyze the data. Eight distinct pathways to carrier testing were distinguishable. While some parents had requested testing, others had been offered testing and some had received carrier results incidentally following testing to exclude affected status. Some parents were discouraged from testing, which led to frustration. Overall, 67% of the parents had received carrier results for at least one child, and parents were happy to have results, even if their children were carriers. Despite recommendations against carrier testing, this study provides evidence of varying practices and highlights a need to review the guidelines.Genet Med 18 12, 1199-1205.