New study describes process to diagnose rare genetic diseases in record time

Researchers at Rady Children's Institute for Genomic Medicine (RCIGM) and its partners, including Fabric Genomics, have today published in Science Translational Medicine a new study documenting the process to diagnose rare genetic diseases in record time. This new method speeds answers to physicians and allows increased use of genome sequencing as a first-line diagnostic test for critically ill babies.

The study details the assembly of an experimental, ultra-high-throughput platform to rapidly analyze whole-genome libraries from patients. Fabric Genomics' proprietary algorithms, VAAST and Phevor - which are part of the Fabric Enterprise™ AI-based variant interpretation platform - were used to deliver genetic variant classification and disease diagnosis in less than 20 hours, the fastest published diagnosis using WG.

Fabric Enterprise is integrated into RCIGM's standard variant analysis and data interpretation workflow, combining sequencing data with phenotypic data from patient records to rank genes based on pathogenicity and identify the genetic variants responsible for genetic disease.

"For three years our team has relied on Fabric Enterprise for rapid genome interpretation. They have been a strong partner as we've sought together to save children's lives," said Dr. Stephen Kingsmore, President and CEO of Rady Children's Institute of Genomic Medicine and the senior author on the paper.

RCIGM began performing genomic sequencing in July 2017 to guide medical intervention to neonatal and pediatric intensive care (NICU/PICU) patients. As of March 2019, the team had completed testing and interpretation of more than 750 children's genomes. One-third of the children tested have received a genetic diagnosis, with 25 percent of those benefiting from an immediate change in clinical care based upon their diagnosis.

"Under Stephen's leadership, Rady is a pioneer in this field," said Martin Reese, PhD, Founder and CEO of Fabric Genomics. "We've been partners with them for years and feel privileged to help them make such a positive impact on children with otherwise undiagnosed conditions."

Building upon today's publication, Fabric Genomics will be presenting on its AI-based solutions for clinical pediatric sequencing at Rady Children's Hospital during the upcoming Frontiers in Pediatric Genomic Medicine conference on May 1, 2019.

Beyond Rady Children's institute, dozens of hospitals around the world trust Fabric Genomic's solutions in their sequencing labs.

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