Researchers at Rady Childrens 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 RCIGMs 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 weve sought together to save childrens lives, said Dr. Stephen Kingsmore, President and CEO of Rady Childrens 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 childrens 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 Stephens leadership, Rady is a pioneer in this field, said Martin Reese, PhD, Founder and CEO of Fabric Genomics. Weve 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 todays publication, Fabric Genomics will be presenting on its AI-based solutions for clinical pediatric sequencing at Rady Childrens Hospital during the upcoming Frontiers in Pediatric Genomic Medicine conference on May 1, 2019.
Beyond Rady Childrens institute, dozens of hospitals around the world trust Fabric Genomics 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. Fabrics 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, LinkedIn, and Facebook.
About Rady Childrens 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 Childrens 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 childrens hospitals across California, the nation and the world. RCIGM is a subsidiary of Rady Childrens Hospital and Health Center. Learn more at www.RadyGenomics.org. Follow us on Twitter @RadyGenomics.
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