Fabric GEM’s accuracy validated across five leading genomics centers of excellence in the U.S. and abroad
OAKLAND, Calif.–(BUSINESS WIRE)–Fabric Genomics, a global leader in clinical interpretation of genomic data, announced today the launch of Fabric GEM, a novel algorithm that quickly and efficiently identifies the likely genetic cause of rare diseases from next-generation sequencing data – enabling faster diagnosis and the possibility of faster and more effective treatment.
Fabric GEM, the latest technology in the Fabric Enterprise platform, uses advanced artificial intelligence (AI) to automate rare disease diagnostics. GEM analyzes sequencing data including complex structural variants and a patient’s clinical information, together with probabilistic disease matching, to prioritize diagnoses. This process allows the clinical teams to concentrate on the most likely possibilities, slashing the time to a genetic diagnosis from days to minutes.
“Fabric is already a leader in the robust and efficient clinical interpretation of genomic information and is extending this leadership with GEM,” said Vikram Bajaj, PhD, managing director of Foresite Capital. “The degree of clinical validation, automation, and end-to-end integration that Fabric has achieved is pivotal as we expand the mainstream use of NGS.”
Fabric GEM was developed in collaboration with Mark Yandell, PhD, professor of Human Genetics and Bioinformatics at the University of Utah, and the team at Rady Children’s Institute for Genomic Medicine led by Stephen Kingsmore, MD, DSc, to meet the need for faster genomic interpretation results for NICU patients, as well as to scale genomic testing for patients grappling with a rare disease.
“Every second counts for critically ill babies in the neonatal intensive care unit,” said Dr. Kingsmore. “Rady Children’s Institute has worked with Fabric Genomics since the early days of launching our rapid Whole Genome Sequencing™, and we’re excited about Fabric GEM’s potential to expand our effort to ensure the best possible outcomes for the vulnerable children in our care. Obtaining a faster diagnosis can make all the difference in providing the right treatment in a timely manner.”
Results validate high accuracy
Rady Children’s Institute and Fabric Genomics recently completed a retrospective study where Fabric GEM was used to analyze previously diagnosed whole-genome cases of critically ill children in Rady Children’s Institute’s NICU. Fabric GEM has been further validated by four leading labs and genomics centers including the Translational Genomics Research Institute (TGen, an affiliate of City of Hope), Hudson Alpha Institute of Biotechnology, Tartu University Hospital in Estonia, and the University of Kiel in Germany. Across all sites, Fabric GEM’s performance continued to set a new standard of accuracy, typically ranking the causative variant first and in the top five more than 95 percent of the time.
“Through our partnerships with leading clinical genomics institutes including Rady Children’s Institute for Genomic Medicine and the University of Utah, we’ve been able to innovate and develop advancements that will help providers to better serve their patients,” said Martin G. Reese, PhD, co-founder and CEO of Fabric Genomics. “Fabric GEM is a perfect example of such collaboration. And importantly, our scientific partners have played a key role by conducting essential repeated validations in additional cohorts.”
Fabric GEM is fully integrated within Fabric Enterprise, which provides a unique comprehensive AI-based solution that spans the range of next-generation sequencing applications, from targeted gene panels to exomes and whole-genome sequencing. The software makes the data sources and logic fully transparent to the clinician, resulting in high diagnostic confidence and an automated AI-driven workflow implemented as a clinical-decision support for genomic diagnoses.
Note to media:
Fabric Genomics will hold a webinar on October 22 to discuss the product launch of Fabric GEM, featuring Francisco De La Vega, DSc, Chief Scientific Officer, and Jeanette McCarthy, PhD, Senior Director of Scientific Programs, both with Fabric Genomics. Fabric Genomics is also hosting a Co-Lab presentation at the American Society of Human Genetics (ASHG) conference, featuring Mark Yandell, PhD, from the University of Utah, and Shimul Chowdhury, PhD, FACMG, from Rady Children’s Institute for Genomic Medicine. The ASHG conference will be held virtually from October 27-30. For more information, contact email@example.com.
Author / sources: Fabric Genomics / https://www.businesswire.com/news/home/20201021005904/en/Fabric-Genomics-Launches-GEM-Algorithm-to-Accelerate-Genetic-Disease-Diagnosis-Provide-Comprehensive-Clinical-Decision-Support