Academics & Research

Research

Genetic Counseling Helps Parents Cope with 'Uncertain' Genetic Test Result in Children

Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay, intellectual disability, and/or autism spectrum disorder. This type of testing, which can simultaneously detect genetic abnormalities on all chromosomes, may discover variants of unknown clinical significance (VUS). When a genetic test determines a child’s disability or disorder is “uncertain,” it can cause parental stress and anxiety. In this study, University of Utah researchers surveyed parents of children with a disability or disorder about their understanding of an uncertain genetic test result and its impact on stress and anxiety. Parents reported that this result was important for understanding their child’s diagnosis and they were satisfied with the information. A majority of parents reported high confidence in their ability to explain an uncertain genetic test result to others. Many of them also stated they received support from a genetic counselor. Based on these survey results, uncertain genetic results are important to parents of children with VUS and genetic counseling regarding uncertain results contributes positively to both parental understanding and support. Stephanie Jez, a student in the University of Utah Graduate Program in Genetic Counseling, led the project.