OBJECTIVES: Parents value etiologic diagnoses for children with suspected rare genetic conditions, even in the absence of treatment change. However, these values and the extent to which parents are willing to pay for genomic testing likely depend on their child’s health state. To date, no stated choice studies have considered children’s health-related quality of life (HRQoL) when exploring parental values for genomic testing. We aim to address this issue by eliciting parents’ preferences for genomic testing conditional on HRQoL.

METHODS: We used a sequential two-part stated choice experiment. The first was a choice of preferred health state, using the Health Utilities Index (HUI3) and a duration attribute. The second was a choice between genomic testing and an opt-out. Test attributes included: likelihood of diagnosis; turnaround time; laboratory and doctor’s test result interpretations; and cost. Utility functions were specified with deterministic and random heterogeneity. Dependence was modelled by interacting the predicted choice probability for the chosen alternative in part one with the constant term for “any test” in part two. Full information maximum likelihood model estimation occurred in a single stage. We sampled parents from the United Kingdom (UK) and Canadian general publics.

RESULTS: 3,048 UK parents and 3,231 Canadian parents completed the survey. Parents valued all aspects of their child’s quality of life, but regarded their children’s emotional well-being and avoidance of pain and discomfort most. Genomic testing was preferred when the likelihood of a diagnosis or concordance in test result interpretations was higher. Parents’ decisions were strongly influenced by children’s underlying HRQoL. Parents were more likely to have their children undergo genomic testing when they were in a worse health state.

CONCLUSIONS: Parents’ decisions to have their children undergo genomic testing are influenced notably by their child’s HRQoL. These underlying values will drive genomic testing uptake in clinical settings.