eP516: Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways

Genome sequencing (GS) and exome sequencing (ES) can improve diagnostic yield compared to conventional diagnostic testing, serve as substitutes for multiple single gene and panel tests, and improve clinical management and subsequent health outcomes for some patients. However, GS and ES may also increase costs, and robust comparative data on long term clinical outcomes are often lacking. Decision model-based cost-effectiveness analyses can serve as a powerful tool to quantify the clinical and economic trade-offs when there is a paucity of direct evidence from comparative studies.