Rapid Whole Genome Interpretation of Pediatric Patients in the NICU/PICU

Rady Children’s Institute for Genomic Medicine in San Diego (RCIGM) uses Fabric Genomics’ software for clinical interpretation and reporting of disease-causing variants in critically-ill children admitted to neonatal and pediatric intensive care units (NICU/PICU). Stephen Kingsmore, MD, DSc, President and CEO of RCIGM, has pioneered the use of rapid Whole Genome Sequencing (rWGS), and holds the Guinness World Record for delivering whole genome analysis in 26 hours- from blood sample to clinical report. Since turnaround times are critical to improving outcomes for newborns and infants, Fabric Genomics implemented a STAT tool that guarantees clinically interpretable information within one hour.

Fabric Genomics’ software is the only genomic interpretation and reporting platform to include the algorithms VAAST and Phevor, two pioneering algorithms for genomic data analysis. VAAST (Variant Annotation, Analysis and Selection Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking Tool) provide clinicians with the means for rapid identification of disease-causing variants through machine-learning technologies and deep phenotypic data. VAAST and Phevor are central to the analysis pipelines of RCIGM, and are essential for the successful identification of disease-causing variants in pediatric patients.

As of the end of November 2017, 36% of the children sequenced at RCIGM received a diagnosis, and of those, 70% receive a change in clinical treatment.  Read how RCIGM is saving children’s lives in the September 2017 issue of TIME.  “Time is of the essence, particularly with newborns who may not exhibit classic symptoms of genetic disorders,” said Dr. Kingsmore. “Our rapid Whole Genome Sequencing pipeline has been calibrated to dramatically reduce the time needed to detect the cause of genetic illness. The Fabric Genomics’ interpretation platform enables us to quickly analyze the results and apply the insights to pediatric patient care.”