Fabric Genomics Launches GEM Algorithm to Accelerate Genetic Disease Diagnosis, Provide Comprehensive Clinical-Decision Support

Fabric Genomics announced 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.

Vikram Bajaj, PhD, managing director of Foresite Capital Said: “Fabric is already a leader in the robust and efficient clinical interpretation of genomic information and is extending this leadership with GEM, 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.

Dr. Kingsmore Said: “Every second counts for critically ill babies in the neonatal intensive care unit, 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.

Martin G. Reese, PhD, co-founder and CEO of Fabric Genomics Said: “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, 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.

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