Integrated Solution for Genomic Analysis to Improve Clinical Care

At the American Society for Human Genetics (ASHG) Annual Meeting, Edico Genome and Fabric Genomics announced their collaboration to provide an integrated solution for secondary and tertiary analysis of next-generation sequencing data. Through this partnership, users can seamlessly utilize Edico Genome’s DRAGEN™ Bio-IT platform with Fabric Genomics’ Opal™ Clinical variant interpretation platform to accurately gain biological insights for both inherited disease and oncology, with the goal of improving patients’ clinical care.

The partnership is grounded in a successful implementation with Rady Children’s Institute for Genomic Medicine (RCIGM), which has utilized DRAGEN and Opal Clinical together for the past year. RCIGM, headed by Dr. Stephen Kingsmore, M.D., D.Sc., President and CEO, relies on the combined solution to deliver life-saving diagnoses for critically ill children in the neonatal intensive care unit (NICU) or pediatric intensive care unit (PICU), at a greatly expedited rate with industry leading accuracy.

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"Speed and accuracy are essential to distilling medically actionable information from whole genome sequencing,” said Dr. Kingsmore. “At Rady Children's Institute for Genomic Medicine, DRAGEN and Opal Clinical are the core technologies that we rely upon for variant identification and interpretation. The results are helping physicians provide targeted treatment for critically ill children in the NICU and PICU."

Edico Genome’s DRAGEN platform performs ultra-rapid secondary analysis, analyzing a whole human genome at 30x coverage in approximately 20 minutes. Due to its patented design, DRAGEN‘s speed does not compromise accuracy, and the platform received high scores across all accuracy metrics in the recent PrecisionFDA Hidden Treasures – Warm Up Challenge. DRAGEN is available both onsite and in the Amazon Web Services’ (AWS) cloud, enabling the delivery of high accuracy and cost savings regardless of throughput.

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“Whether analyzing thousands of genomes for a national genomics program or individual sequences to provide personalized insight, disjointed workflows reduce efficiency, resulting in time and money lost,” said Pieter van Rooyen, Ph.D., President and CEO at Edico Genome. “Our partnership with Fabric Genomics is one built on mutual dedication to accuracy, speed and data security, resulting in an ultra-rapid, highly accurate turnkey solution.”

Fabric Genomics uses machine learning to rapidly identify disease-causing variants through its two proprietary algorithms, VAAST and Phevor. Clinical research partnerships with pioneers RCIGM, Genomics England, and the Utah Genome Project have demonstrated that the two algorithms are essential for the successful identification of deleterious variants in critically ill children.

“Both Opal Clinical and DRAGEN were designed to forward the adoption of personalized medicine through faster, more accurate downstream analysis,” said Martin Reese, Ph.D., President and CEO at Fabric Genomics. “As we continue to strengthen our partnership with Edico Genome, we look forward to delivering enhanced integrated offerings and services in order to help discover disease-causing variants in children and help change treatment for the better.”