SAN DIEGO and CAMBRIDGE, ENGLAND – April 19, 2017 – Congenica and Edico Genome today announced the companies have partnered to offer their complementary platform technologies as an all-in-one, genome data analysis solution that accelerates clinical labs’ and hospitals’ progression from DNA sequencing to diagnosis for inherited diseases, which otherwise can take months or years, while also reducing costs.
Available immediately, the new offering combines Congenica’s SapientiaTM software platform, which allows hospitals and labs to analyse and interpret the genome and create comprehensive diagnostic reports to support clinical decision-making, with Edico Genome’s DRAGENTM, a field-programmable gate array (FPGA)-centric platform that implements genome pipeline algorithms to analyse a whole genome in only 20 minutes onsite, or under 10 minutes in a single cloud instance. Both platforms accelerate analysis times while maintaining high accuracy, significantly lowering costs and providing accessibility via the cloud.
Thomas Weaver, Ph.D., Chief Executive Officer of Congenica said: “Sapientia is already used by the National Health Service in England, women’s and children’s hospitals across the United Kingdom as well as by clinical scientists providing reports for the 100,000 Genomes Project. Without a diagnosis, it’s difficult to put the patient on the most appropriate treatment plan or make a prognosis of what the likely outcome is for the patient. Edico shares our vision of transforming healthcare by developing easy to use, highly automated genomics analysis solutions, and by combining our complementary technologies we aim to accelerate the clinician’s ability to use genomics to diagnose a patients’ disease.”
Edico’s DRAGENTM Bio-IT processor has been assessed as part of University College London’s (UCL) Rapid Paediatric Sequencing Project (RaPs), a pilot aimed at evaluating the use of rapid whole genome sequencing (WGS) for rare diseases in an intensive care clinical setting.
Phil Beales, Professor of Medical and Molecular Genetics at UCL said: “For children with rare diseases and their parents, answers can’t come quickly enough. Faster answers mean less time finding a diagnosis and more time making decisions about treatment and care. After extensively testing and validating the platforms, we were impressed by the speed, accuracy and cost savings conferred. Initially, we will apply the technology to a number of clinical cases where rapid turnaround is especially critical, and ultimately envisage the solution will be widely used as we scale our efforts.”
Added Pieter van Rooyen, Ph.D., Chief Executive Officer of Edico Genome: “As genomics marches towards the clinic, we recognize clinicians and researchers need easy to use, all-in-one solutions that enable genomic data to be analysed and shared quickly, easily, accurately and cost effectively. Congenica has first-hand perspective of the needs of the clinical genomics community from its extensive work with the National Health Service, including the Genomics England initiative, and through this new collaboration we’re able to create an all-in-one, easy-to-use offering that significantly accelerates the ability of hospitals and clinical labs to move from the sequencing of a sample to a clinical diagnosis.”
Rapid, accurate and scalable diagnosis of patients with inherited genetic diseases helps accelerate access to the best clinical treatments and prevention strategies. Congenica, a global clinical genetics software company, created Sapientia™ that offers Clinical Scientists, Hospitals and Clinical Labs an all in one software platform to enable scalable, accurate, fast and flexible genetic diagnostic services. Congenica is a global company, headquartered in Cambridge UK and founded by pioneering researchers from the Sanger Institute.
Clinicians and scientists are using Sapientia, a cloud-based integrated software platform to analyze and interpret genetic data linked to patients’ phenotypes. The software is designed to support clinical interpretation workflows and generate professional diagnostic reports. Sapientia handles the main data inputs including BAM, VCF and FASTQ files in many upload formats and the added flexibility to Integrate and manage customer legacy data to enhance diagnostic capabilities.
Find out more about Congenica at www.congenica.com or follow @Congenica.
Sapientia™ facilitates analysis of genetic data to produce a comprehensive diagnostic report that can be linked to patients’ symptoms, supporting clinical decision-making about rare genetic disease. The platform is based on pioneering research from the UK Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories, and its underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd.
About Edico Genome
The use of next-generation sequencing is growing at an unprecedented pace, creating a need for easy to implement infrastructure that enables rapid, accurate and cost-effective processing and storage of this big data. Edico Genome has created a patented, end-to-end platform solution for analysis of next-generation sequencing data, DRAGEN™, which speeds whole genome data analysis from hours to minutes while maintaining high accuracy and reducing costs. Top clinicians and researchers are utilizing the platform to achieve faster diagnoses for critically ill newborns, cancer patients and expecting parents waiting on prenatal tests, and faster results for scientists and drug developers.