Case Study: Rady Children’s Institute for Genomic Medicine achieves rapid whole genome interpretation for critically ill children with Fabric Genomics

Rady Children’s Institute for Genomic Medicine achieves 36% diagnosis rate in NICU/PICU with Fabric Genomics

Rady Children’s Institute for Genomic Medicine (RCIGM) sought to rapidly diagnose critically ill children in intensive care units to improve their treatment outcomes. To meet this challenge, they utilized the clinical interpretation and reporting software from vendor Fabric Genomics.

Fabric Genomics implemented a STAT tool that guarantees interpretable results within one hour, which was critical for RCIGM's record-fast diagnostic pipeline. The solution leveraged the vendor's VAAST and Phevor algorithms to rapidly identify disease-causing variants. As a result, 36% of sequenced children received a diagnosis, and of those, 70% had a change in their clinical treatment.

Rady Children’s Institute for Genomic Medicine