Fabric Genomics Partners to Improve Pediatric Care
News Oct 20, 2017
Utah Genome Project demonstrate diagnostic utility of Fabric Genomics’ algorithm-based genome analysis Fabric Genomics has partnered with Genomics England’s 100,000 Genomes Project, Rady Children’s Institute for Genomic Medicine (RCIGM), and The Utah Genome Project (UGP), to provide fast and accurate identification of pediatric disease-causing variants to improve the clinical care of children.
Fabric Genomics’ Opal™ Clinical is the only genomic interpretation and reporting platform to include the algorithms VAAST and Phevor, two pioneering algorithms for genomic data analysis. VAAST (Variant Annotation, Analysis and Selection Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking Tool) provide clinicians with the means for rapid identification of disease-causing variants through machine-learning technologies. VAAST and Phevor are central to the analysis pipelines of Genomics England, RCIGM, and UGP, and are essential for the successful identification of disease-causing variants in critically ill children.
Genomics England, the leading international genome sequencing project, focuses on rare diseases and cancer, with a large pediatric population. Fabric Genomics’ Opal Clinical platform has been used to deliver more than 1,200 clinical reports for the project to date. These reports have identified candidate causal genes in the analyzed cases, powered by the proprietary VAAST and Phevor ranking algorithms, which enable turnaround times of less than one week for each case, on average.
Through rapid whole genome sequencing (rWGS), RCIGM identifies disease-causing genes in critically ill newborns who are hospitalized in neonatal and pediatric intensive care units. As of September 2017, 34% of the children sequenced at RCIGM receive a diagnosis, and of those, 81% receive a change in clinical treatment. Read how RCIGM is saving children’s lives in TIME. RCIGM achieves fast and accurate results by utilizing Edico Genome’s DRAGEN platform for ultra-fast variant calling, along with Fabric Genomics’ Opal Clinical interpretation software. Fabric Genomics and Edico Genome have enabled one of the fastest comprehensive clinical genomics diagnostic pipelines, minimizing unnecessary ICU stays and notably changing medical outcomes for critically ill newborns. After a successful collaboration at RCIGM, both companies are announcing a formal partnership today at ASHG, to enable hospitals world-wide to provide these services. The UGP is a large-scale genomic sequencing study that aims to study families to uncover genetic causes of disease and drug responses. It is partnering with Fabric Genomics to use Opal Clinical to accelerate its analyses.
The UGP is currently engaged in over 50 research projects, ranging from the genetics of autism, to pediatric cardiovascular defects, to pediatric liver diseases, to Amyotrophic Lateral Sclerosis. In total, the program has analyzed approximately 27,000 individuals spanning 5,404 kindreds and 89 different projects over the past two years. Co-inventor of VAAST and Phevor, Dr. Mark Yandell of the UGP comments, “Opal Clinical not only allows us to discover new genes using VAAST and Phevor, but also to report back clinically meaningful insights to our patients and their families.”
In a new collaboration, the UGP and Fabric Genomics have partnered with FDNA to integrate their Face2Gene technology, which uses next-generation phenotyping, including facial analysis, to detect disease-related features that can help highlight associated gene variations that cause disease, especially in children. Fabric Genomics has integrated Face2Gene into Opal Clinical to facilitate comprehensive and precise genetic evaluations. Face2Gene’s outputs can be directly incorporated into genome analysis using Phevor to further improve diagnosis rates.
“These new and existing partnerships will continue to improve clinical care, save lives, and reduce expenditures by deploying our groundbreaking platform and algorithms,” said Fabric Co- Founder and Chief Medical Officer Dr. Paul R. Billings. “Other important genomic projects like the Department of Veterans Affair’s Million Veteran Project (MVP), launches at large hospitals and health care systems, and nationwide discovery programs should benefit from progress and applications of Fabric Genomics’ approaches and products.”