Economic Evaluation of Exome and Genome Sequencing in Child Health

As whole exome sequencing (WES) and whole genome sequencing (WGS) technologies are increasingly used in clinical practice, there is a pressing need to understand the true costs of these technologies as well as their incremental cost-effectiveness compared to standard approaches to genetic testing. This seminar will present research delineating the costs of various WES and WGS platforms, and the use of these estimates in evaluations of sequencing technologies for diagnosing autism spectrum disorder, unexplained developmental disabilities, and multiple congenital anomalies. The mechanism for using economic evidence to inform funding of genomic technologies will be briefly explained.