LONDON and SAN FRANCISCO – Jan. 8, 2018 – Today at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing (NGS) data analysis in Genomics England’s Rare Disease Pilot.
The partnership will support Genomics England in making NGS the standard of care across the U.K.’s National Health Service (NHS) in 2018. Specifically, the partnership will focus on the analysis pipeline − improving alignment and variant calling of whole-genome sequencing data. Genomics England selected DRAGEN for its industry leading accuracy and speed, enabling the organization to accelerate analysis of large clinical genomic datasets.
“Working with Edico Genome, Genomics England moves one step closer to reaching genomic medicine’s full potential and improving the efficiency of whole-genome analysis to help diagnose rare diseases,” said Joanne Hackett, chief commercial officer at Genomics England. “This partnership demonstrates our commitment to harnessing the most innovative technologies in the world to maximize patient benefit.”
Genomics England is currently using DRAGEN to re-process 5,000 whole human genomes from individuals with rare diseases. These genomes were originally mapped and aligned on reference genome GRCh37, but an updated human reference genome has since been released, GRCh38, which offers increased accuracy and consistency of results. These re-processed datasets will be provided to pharma and industry partners for additional analysis through the Discovery Forum, a platform for collaboration and engagement between Genomics England, industry partners, academia, the NHS and the wider U.K. genomics landscape. In conjunction with the announcement, Edico Genome has joined Discovery Forum.
“Genomics England is truly paving the way for the widespread integration of whole-genome sequencing on a population scale, bringing the future of personalized medicine into the now for individuals across the U.K.,” said Pieter van Rooyen, Ph.D., president and CEO at Edico Genome. “Our bioinformatics and engineering teams are committed to pushing the envelope in terms of accuracy, sensitivity, speeds and scalability to ensure the highest level of personalized care can be delivered in a timely, cost effective and economical manner. We are honored to be able to assist in such an important undertaking – helping diagnose rare diseases — and look forward to bringing further optimizations and new pipelines to customers in 2018.”
By leveraging field programmable gate arrays (FPGAs), DRAGEN provides outputs almost instantaneously and processes clinical grade genomic data at record-breaking speeds. To ensure precise results, all DRAGEN pipelines feature validated algorithms for enhanced accuracy. DRAGEN can be implemented onsite, in the Cloud or through a blended hybrid-cloud solution.