Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment

Abstract

PurposeApplication of whole-exome and whole-genome sequencing is likely to increase in clinical practice, public health contexts, and research. We investigated how parental preference for acquiring information from genome-scale testing is influenced by the characteristics of non-medically actionable genetic disorders in children, as well as whether the preferences differed by gender and between African-American and white respondents.MethodsWe conducted a Web-based discrete-choice experiment with 1,289 parents of young children. Participants completed "choice tasks" based on pairs of profiles describing sequencing results for hypothetical genetic disorders, selected the profile in each pair that they believed represented the information that would be more important to know, and answered questions that measured their level of distress.ResultsKnowing the likelihood that the disorder would develop given a true-positive test result was most important to parents. Parents showed greater interest in learning sequencing results for disease profiles with more severe manifestations. This was associated with greater distress. Differences by gender and race reflected small differences in magnitude, but not direction.ConclusionParents preferred to learn results about genetic disorders with more severe manifestations, even when this knowledge was associated with increased distress. These results may help clinicians support parental decision making by revealing which types of sequencing results parents are interested in learning.

Figure 1

Example of a choice question from the discrete choice experiment

Figure 2. Plot showing preference weights (line graphs) and mean distress ratings (bar charts) by attribute level

Mean distress ratings within an attribute are all significantly different at P<0.001, except for the difference between conditions with an age of onset at 6 to12 years versus 13 to18 years, t(1249)=-3.08, P=0.013, and a nonsignificant pairwise comparison between conditions with an age of onset less than 1 year versus 1 to 5 years, t(1249)=1.56, P=0.707.