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
“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
“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.
About Fabric Genomics
Fabric Genomics is making genomics-driven precision medicine a reality.
The company provides clinical-decision support software that enables
clinical labs, hospital systems and country-sequencing programs to gain
actionable genomic insights, resulting in faster and more accurate
diagnoses and reduced turnaround time. Fabric’s end-to-end genomic
analysis platform incorporates proven AI algorithms, and has
applications in both hereditary disease and oncology. Headquartered in
Oakland, California, Fabric Genomics was founded by industry veterans
and innovators with a deep understanding of bioinformatics, large-scale
genomics and clinical diagnostics. To learn more, visit www.fabricgenomics.com
and follow us on Twitter,
About Rady Children’s Institute for Genomic Medicine:
The Institute is leading the way in advancing precision healthcare for
infants and children through genomic and systems medicine research.
Discoveries at the Institute are enabling rapid diagnosis and targeted
treatment of critically ill newborns and pediatric patients at Rady
Children’s Hospital-San Diego and partnering hospitals. The vision is to
expand delivery of this life-saving technology to enable the practice of
precision pediatric medicine at children’s hospitals across California,
the nation and the world. RCIGM is a subsidiary of Rady Children’s
Hospital and Health Center. Learn more at www.RadyGenomics.org.
Follow us on Twitter @RadyGenomics.