New partnership to speed analysis from ‘DNA to diagnosis’ for inherited diseases
Congenica and Edico Genome have 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 takes months or years.
This dramatic improvement in diagnosis can be achieved 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, PhD, Chief Executive Officer of Congenica, said: “Sapientia is already used extensively throughout the NHS in the UK as well as by clinical scientists providing reports for the 100,000 Genomes Project. Without a diagnosis, it is difficult to select the most appropriate treatment plan for a patient or make a prognosis of what the likely outcomes may be. 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, and make this available on a global basis.”
Edico’s DRAGEN 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 cannot 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 NHS, 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 SapientiaTM 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 http://www.congenica.com or follow @Congenica.
SapientiaTM 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.
For more information, visit http://www.EdicoGenome.com or follow @EdicoGenome.
The DRAGEN platform features optimized algorithms for mapping, alignment, sorting, variant calling and more. Multiple end-to-end, clinical-grade pipelines are available from Edico, including genome/exome, cancer, transcriptome/RNA-seq, structural variant, copy number variant, epigenome/methyl-seq, metagenome/microbiome, joint genotyping and third-party pipelines such as GATK 3.6. The platform is flexible and allows for customization of algorithms and existing pipelines. Best-in-class solutions for onsite, cloud or hybrid cloud analysis have been created through partnerships with top technology companies, including Intel, IBM, Dell EMC, and Amazon Web Services.
Issued for and on behalf of Congenica by Instinctif Partners.
For more information please contact:
Shikha O’Brien, Ph.D.
Chief Business Officer
Telephone: (+1) (858) 699-4350
Priya Kalia, Ph.D./Sue Charles
Telephone: +44 (0)20 7866 7862
For Edico Genome:
Vice President, Marketing
Telephone: (+1) (858) 699-1212
Telephone (+1) (619) 849-5383