Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

Abstract

Purpose:The potential for utilizing whole-genome sequencing in newborn screening (NBS) has been recognized, but the ethical, legal, and social issues of this may require further analysis. This article begins to address the gap in the literature concerning psychosocial effects of "genomic NBS," focusing on later effects of screening for genetic susceptibility to a single, complex disorder: Type 1 diabetes (T1D). It also examines parental attitudes toward potential future expansions of NBS.Methods:Fifteen semistructured interviews were conducted with parents of children who had been tested for genetic susceptibility to T1D 12 years previously.Results:Parents in this study were not psychologically burdened by knowledge of their child's genetic risk but perceived little benefit. Most of these parents disclosed the result to their child at age 12 years without obvious adverse impact. Parents were unenthusiastic about potential future expansions of NBS to include similar genomic tests.Conclusions:Absence of adverse psychosocial effects and ease of disclosure to the child represent initial positive findings, but they require replication and further evaluation in relation to uptake of prevention strategies. Attitudes of parents to "genomic NBS" are variable, suggesting that parental choice will be an important component of future screening programs.