Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed
to maximize clinical utility and cost-effectiveness. Objectives To investigate the impact of
WES in sequencing-naive children suspected of having a monogenic disorder and evaluate
its cost-effectiveness if WES had been available at different time points in their diagnostic
trajectory. Design, Setting, and Participants This prospective study was part of the …