ACMG 2024 Learning Lounge Presentation: Implementing WGS on infants admitted to the CICU at Intermountain Primary Children’s Hospital in collaboration with the Broad Clinical Labs and Fabric Genomics

This presentation investigates the implementation of Whole Genome Sequencing (WGS) into the clinical process for infants undergoing surgical repair of Congenital Heart Defects (CHD) within a pediatric cardiac intensive care unit (CICU).

The discussion encompasses historical considerations in past testing protocols, the rationale for employing WGS, the procedural steps to integrate it into a hospital setting, and an in-depth exploration of the practical experience with the sample-to-report genome service provided by Broad and Fabric. The presentation also includes an overview of current findings and advancements from initial cases, along with a discussion on future directions.