Learning objectives:

- How to bring whole genome sequencing into routine clinical use

- How to evaluate nearly all 5,000 known genetic diseases in a single test

- What improvements can be made to allow a 26-h time to provisional molecular diagnosis from WGS with >99.5% sensitivity and specificity of genotypes
 

Genetic diseases, of which there are over 5000, are the leading cause of death in infants, especially in Neonatal Intensive Care Units (NICU) and Pediatric Intensive Care Units (PICU). Whole genome sequencing and whole exome sequencing are effective methods for diagnosis of genetic diseases. However, they are too slow to have clinical utility in acute care, such as in diagnosis of genetic diseases in very ill infants where there is often a very narrow time window to guide interventions.

Together with the Rady Children’s Institute for Genomic Medicine, we’ve developed an ultra-rapid platform that addresses this issue of time in pediatric genomics. The ultra-rapid platform utilizes DRAGEN, Edico Genome’s bio-IT Platform designed to rapidly accelerate NGS big data analysis by utilizing the efficiency and parallelization that is delivered by implementing Edico Genome’s algorithms on an FPGA-based platform.  This new FPGA-powered infrastructure allows the simultaneous evaluation of nearly all 5,000 known genetic diseases in a single test, enabling NICUs and PICUs like Rady Children’s to diagnose and treat newborns in unprecedented time. Edico Genome and the Rady Children’s Institute for Genomic Medicine recently published a white paper, “Precision Medicine for Newborns by 26-Hour Whole Genome Sequencing,” detailing the ultra-rapid infrastructure and its implementation at Rady Children’s, including findings and results to date.