Case Study: Rady Children’s Institute for Genomic Medicine achieves rapid ICU genomic diagnosis with Fabric Genomics Opal Clinical STAT

Delivering Rapid Whole Genome Reports for ICU Cases with Opal Clinical STAT

Rady Children’s Institute for Genomic Medicine, a leader in pediatric genomic care, needed a way to deliver rapid whole genome sequencing results for critically ill newborns and children in the NICU and PICU. Their challenge was to move from blood sample to preliminary genetic results in about 24 hours, where every delay could affect treatment decisions and outcomes. They chose Fabric Genomics and its Opal™ Clinical STAT / Fabric Enterprise clinical interpretation and reporting platform to support this urgent workflow.

Fabric Genomics implemented Opal™ Clinical STAT to prioritize urgent WGS cases, enabling rapid annotation, interpretation, and reporting within about one hour for clinical insights from NGS data. The solution helped Rady Children’s achieve a reported diagnostic success rate of 54% in the first few months, with clinical treatment changes for about half of patients. The case study also highlights faster diagnosis in an infant with seizures, where rapid interpretation identified a KCNQ2 mutation and guided more appropriate treatment, demonstrating the impact of Fabric Genomics on care speed, accuracy, and cost reduction.

Rady Childrens Institute for Genomic Medicine

Stephen Kingsmore

President and CEO