CAMBRIDGE, United Kingdom and SAN DIEGO, April 20, 2017 /PRNewswire/ — 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 takes months or years. This dramatic improvement in diagnosis can be achieved whilst 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 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 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.
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.
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.
SOURCE Edico Genome
Invitae announces expansion of its genetic test menu with addition of new tests and expanded panels for inherited metabolic and immune system disorders, including panels to confirm diagnoses suggested by newborn screening
SAN FRANCISCO, April 20, 2017 /PRNewswire/ — Invitae Corporation (NYSE: NVTA), one of the fastest growing genetic information companies, today announced the addition of 80 new panels alongside updates to an additional 24 panels for the diagnosis of inherited immunologic and metabolic disorders, including panels designed to confirm diagnoses suggested by newborn screening. The new and updated tests further expand the company’s robust menu of high-quality, affordable diagnostic genetic tests available for use by clinicians.
Many inherited metabolic disorders, such as lysosomal storage disorders, are caused by genetic changes impacting the production and regulation of enzymes that help the body function properly. Additionally, genetic changes impacting the immune system are responsible for conditions such as primary immunodeficiency (PID). Comprehensive and accurate genetic testing can help diagnose these conditions definitively and determine which gene is involved, thereby enabling patients and clinicians to make informed treatment decisions.
“When we see children and newborns in whom we suspect a genetic condition based on clinical, immunological, or biochemical evidence, including newborn screening tests, we need fast, accurate testing to avoid a protracted diagnosis process,” said Olaf Bodamer, MD, PhD, Associate Chief of Genetics and Genomics at Boston Children’s Hospital. “Well-curated panels are a cost-effective way to obtain actionable genetic information quickly for patients, enabling informed decision-making on a management plan when early intervention may make all the difference.”
Invitae offers flexible testing options for clinicians, who may choose one or more curated panels designed using up-to-date knowledge on the genetic changes associated with a wide array of disorders, or design their own customized tests based on a patient’s unique situation. Regardless of how the clinician chooses to proceed, panel tests are offered at the same price, with results available in 10-21 calendar days (14 days on average), and with clinical consult and genetic counseling services available.
“Genetic disorders affecting metabolism or the immune system are very serious, often progressive, and typically begin within the first few months of life. As treatment breakthroughs continue to advance for these conditions, including enzyme replacement therapy and gene therapy, the importance of using genetic information to make an accurate, early diagnosis that can guide clinical decision-making also grows,” said Robert Nussbaum, MD, chief medical officer of Invitae. “With this expansion, we are providing a comprehensive array of carefully designed testing options for clinicians, further enabling the use of genetic testing to guide diagnosis and medical care.”
Among the new panels now available:
- New and updated lysosomal storage disorders (LSD) panels, covering 52 genes associated with both rare and common, pediatric and late-onset LSDs, making it one of the broadest panels available.
- An updated newborn screening confirmation panel that includes 90 genes chosen to meet increasing needs for genetic information to confirm diagnosis of a wide array of genetic disorders in infants, including X-linked adrenoleukodystrophy, lysosomal storage disorders, and organic acidemias.
- A new panel of up to 133 genes for diagnosing treatable neurometabolic disorders, such as NAGS deficiency, creatine biosynthesis disorders (AGAT and GAMT deficiencies) and pyridoxine responsive epilepsy, that enables the early diagnosis critical to clinical intervention for what are often serious, progressive conditions.
- A new panel covering more than 200 genes associated with primary immunodeficiencies, to help clinicians precisely identify the underlying defect and deliver the most appropriate treatment. This includes nine new panels covering T/B cell deficiencies, designed for both Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID), to quickly provide an accurate diagnosis for infants and children identified through newborn screening or because of severe infections in the first few months of life.
- A new panel covering 46 genes that are associated with monogenic forms of inflammatory bowel disease. These disorders can be difficult to diagnose with traditional testing, but a confirmed diagnosis can help guide clinical management decisions.
Importantly, Invitae includes deletion/duplication analysis with all testing at no extra charge, which enables identification of the roughly 5-10% of pathogenic variants that have been traditionally considered hard to identify via next-generation sequencing.
More information about the new panels, as well as Invitae’s full test menu, is available at the company’s website www.invitae.com.
Invitae Corporation’s (NYSE: NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae’s goal is to aggregate most of the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower price than many single-gene and panel tests today. The company currently provides a diagnostic service comprising hundreds of genes for a variety of genetic disorders associated with oncology, cardiology, neurology, pediatrics, and other rare disease areas. Additionally, the company has created a Genome Network to connect patients, clinicians, advocacy organizations, researchers, and therapeutic developers to accelerate the understanding, diagnosis, and treatment of hereditary disease. For more information, visit our website at invitae.com.
Safe Harbor Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements that genetic testing can help diagnose conditions definitively and enable patients and clinicians to make informed treatment decisions; that well-curated panels are a cost-effective way to obtain actionable genetic information quickly and enable informed decision-marking on a management plan; and that the company’s new panel enables early diagnosis critical to clinical intervention. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: risks associated with the company’s ability to develop and commercialize new tests and expand into new markets; the company’s ability to use rapidly changing genetic data to interpret test results accurately and consistently; the company’s ability to develop tests to keep pace with rapidly changing technology and new and increasing amounts of scientific data; the company’s history of losses; laws and regulations applicable to the company’s business; and the other risks set forth in the company’s filings with the Securities and Exchange Commission, including the risks set forth in the company’s Annual Report on Form 10-K for the year ended December 31, 2016. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.
NOTE: Invitae and the Invitae logo are trademarks of Invitae Corporation. All other trademarks and service marks are the property of their respective owners.
SOURCE Invitae Corporation
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