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Oxford Nanopore Expands Respiratory Pilot Program, Imagine Pharma Launches Foundation, Collaborations for Rare Diseases, More

By Diagnostic World Team 

January 31, 2024 | Oxford Nanopore Technologies and Guy’s and St Thomas’ NHS Foundation Trust have collaborated and successfully completed a pilot program meant to deliver a respiratory metagenomics service with an integrated respiratory infection and biosecurity application; Imagine Pharma announced the formation of The Imagine Pharma Foundation, a private, not-for-profit charitable organization dedicated to advancing metabolic research to significantly impact the lives of those affected by diabetes, with a particular emphasis on serving veterans; DNAnexus and TMA Precision Health announced a collaboration to advance basic and translational research for patients who have a rare disease; more. 

 

Researchers from Genomics England, NHS England, Queen Mary University of London, Guy's and St Thomas' NHS Foundation Trust, and the University of Westminster published findings in Nature Medicine revealing precision medicine insights for oncology samples from the 100,000 Genomes Cancer Programme. The researchers linked whole genome sequencing to patient clinical data including diagnoses, treatment regimens, and cause of death. These datasets, “demonstrated the utility of linking genomic and real-world clinical data to enable survival analyses to identify cancer genes that affect prognosis and advance our understanding of how cancer genomics impacts patient outcomes,” the authors write. DOI: 10.1038/s41591-023-02682-0 

Oxford Nanopore Technologies announced the completion and expansion of a successful pilot program lead by a collaboration from across the genomics sector to deliver a respiratory metagenomics service with an integrated respiratory infection and biosecurity application. With a visit to the program at Guy’s and St Thomas’ NHS Foundation Trust (GSTT) by the Deputy Prime Minister Oliver Dowden, the government announced the funding to expand sequencing capabilities across a consortium of NHS hospital sites. This world-first program combines effective infectious disease management with rapid emerging pathogen detection and notification. Press release.  

Ultima Genomics and Quest Diagnostics are collaborating to improve patient access, affordability, and outcomes by broadening the use of highly accurate, cost-efficient, and high-volume whole genome sequencing for fast-growth areas, such as solid-tumor minimal residual disease (MRD) testing. Quest intends to deploy the Ultima technology for the possible development of lab-developed tests involving its Haystack solid-tumor MRD technology for future clinical and biopharmaceutical MRD applications, supplementing its current whole exome sequencing approach, as well as for certain future whole genome testing applications, such as rare disease detection in pediatric patients. The collaboration will also leverage Quest's expertise and scale in oncology, genomics, pathology, national scale in tumor biopsy, and blood specimen collection. Press release

DNAnexus and TMA Precision Health announced a collaboration to advance basic and translational research for patients who have a rare disease. As part of the agreement, qualified researchers will be able to use the DNAnexus Precision Health Data Cloud and analysis tools to access and explore TMA’s high-quality whole genome sequencing data and associated longitudinal medical records. The collaboration will help scientists gain important translational research insights that can improve diagnostic test selection and treatment options for patients with rare disorders. Press release

DNAnexus and Intelliseq announced a partnership to simplify and accelerate variant interpretation and clinical reporting. As part of the agreement, DNAnexus is adding Intelliseq’s automated genome interpretation and reporting capabilities to its Precision Health Data Cloud. The integrated, one-click solution will streamline NGS data analysis and provide scientists with the ability to generate critical insights into somatic cancers, hereditary diseases, and other precision medicine and biomedical research applications. Press release

Imagine Pharma announced the formation of The Imagine Pharma Foundation, a private not-for-profit charitable organization dedicated to advancing metabolic research to significantly impact the lives of those affected by diabetes, with a particular emphasis on serving veterans. The Imagine Pharma Foundation will collaborate with leading research institutions, pharmaceutical companies, healthcare providers, and other non-profit organizations, with a focus on four key areas: advancement of metabolic and diabetes research, increasing access to cutting-edge treatments for veterans and communities in need, supporting other non-profits focused on metabolic research and care and implementing education, and awareness programs on diabetes prevention. Press release

Qlucore has signed an agreement with Sahlgrenska Hospital in Gothenburg, Sweden. The hospital will use the Qlucore Insights software to improve the diagnosis of acute lymphoblastic leukemia (ALL) in children. ALL is the most common form of childhood leukemia, affecting 90% of children diagnosed with leukemia. With existing customers in Denmark and Italy, this agreement marks an expansion for Qlucore as it secures its first precision diagnostics order in Sweden. The Qlucore goal is to help customers develop analyses that contribute to a more accurate diagnosis, enabling clinicians to make more informed treatment choices. Press release

Personalis has received a final Medicare coverage determination for its NeXT Dx ultra-comprehensive tumor genomic profiling assay, providing access for the nation’s 66 million Medicare and Medicare Advantage beneficiaries. NeXT Dx analyzes a tumor’s entire exome (DNA) and transcriptome (RNA) to uncover deeper insights into therapy selection, including RNA-based fusions and advanced biomarkers that smaller panels might miss, such as tumor mutational burden and microsatellite instability. In addition, NeXT Dx utilizes paired tumor and non-tumor samples to report more accurate results. Press release

Agepha Pharma and Caristo Diagnostics have collaborated to improve awareness and clinical education about the central role of inflammation in coronary artery disease. The companies will jointly support a series of educational forums among clinicians beginning later this year highlighting the significant new scientific breakthroughs that are radically transforming the traditional approach to heart disease prevention and prediction. They will also selectively support clinical research involving the CaRi-Heart technology for coronary inflammation diagnostics and LODOCO 0.5 mg tablets for therapeutic intervention. Press release

Concentric by Ginkgo has entered into a Co-Marketing Agreement with Illumina to partner on expanding biosecurity capabilities globally. Under the agreement, the partners aim to demonstrate the use of Illumina products with Concentric's bioradar, to accelerate the expansion of the pathogen monitoring network in a way that empowers countries, as well as increase the scale and scope of pathogen genomic surveillance globally. Concentric and Illumina will work together to market their solutions with the aim to enhance early warning of emerging and novel pathogens, as well as fill gaps in global biosurveillance infrastructure. Press release

In the most comprehensive study of its kind, researchers from the Wellcome Sanger Institute, Open Targets, and their collaborators pooled together data from 930 cancer cell lines. They then used machine learning methods to find the drug targets that show the most promise for developing new treatments, and the patients who would most benefit from such treatments. This involved assessing the occurrence of these targets in actual patient tumors and linking them to specific biological markers and genetic and molecular features found in the tumors. The findings underscore the importance of tailoring treatments to the unique characteristics of each cancer, promising more personalised care for patients with fewer side effects in the future. Press release

DNAnexus and Ovation have teamed up to help streamline large-scale omics data analysis. The collaboration will initially focus on Ovation’s inflammatory bowel disease omics data, which includes whole genome sequencing and whole transcriptome sequencing on normal and diseased tissues linked to longitudinal clinical data. In the future, the companies plan to extend the collaboration into immunology, oncology, and cardiometabolic therapeutic areas. Press release

CELLphenomics and Charles River Laboratories International announced an agreement that provides Charles River clients with access to CELLphenomics’ proprietary 3D tumor model platform, PD3D, which will expand Charles River’s 3D in vitro testing services to further optimize oncological approaches for its clients. The agreement will also provide CELLphenomics access to Charles River’s genomically annotated and in vivo characterized cancer model database. The merge of both biobanks will significantly increase the translational relevance of the in vitro and the in vivo platforms offered by CELLphenomics and Charles River. Press release

Ultima Genomics and Quest Diagnostics have partnered to improve patient access, affordability, and outcomes by broadening the use of highly accurate, cost-efficient, and high-volume whole genome sequencing for fast-growth areas, such as solid-tumor minimal residual disease (MRD) testing. Quest intends to deploy the Ultima technology for the possible development of lab-developed tests involving its Haystack solid-tumor MRD technology for future clinical and biopharmaceutical MRD applications, supplementing its current whole exome sequencing approach, as well as for certain future whole genome testing applications, such as rare disease detection in pediatric patients. The collaboration will also leverage Quest's expertise and scale in oncology, genomics, pathology, national scale in tumor biopsy, and blood specimen collection. Press release

Paige has released a product developed from Paige’s Pathology Foundation Model, Virchow. Built using one of the largest libraries of digitized images, utilizing unique computational resources provided by Microsoft Research, Paige has developed the first application that can detect cancer across more than 17 different tissue types including skin, lung, and the gastrointestinal tract, along with multiple rare tumor types and metastatic deposits. Press release

NeuroQure has acquired the exclusive rights to license a patent portfolio from the UC Irvine Center for Autism Research and Translation (CART). This intellectual property, developed over seven years with an investment of over $14 million, forms the cornerstone for the creation of precise diagnostic tools for autism spectrum disorder (ASD) and related intellectual disabilities. NeuroQure's acquisition positions the company to offer help to families within a few weeks of birth, dramatically shortening what is typically a long and painful, five-plus year, diagnostic odyssey to a diagnosis of ASD. This is particularly acute in families with a prior affected child, where the risk is 20 times greater than that of the rest of the population. Press release

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