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Quest Diagnostics, PathAI Team Up, PacBio Selected To Support Rare Disease Program, New Product from FoundationOne; More

By Diagnostic World Team  

May 29, 2024 | Quest Diagnostics and PathAI announced a multi-faceted collaboration designed to accelerate the adoption of digital and AI pathology innovations; Ambry Genetics and PacBio were selected to support the Pediatric Mendelian Genomics Research Center (MGRC) program; Foundation Medicine launches FoundationOne RNA; more. 

Quest Diagnostics and PathAI announced a multi-faceted collaboration designed to accelerate the adoption of digital and AI pathology innovations to improve quality, speed, and efficiency in diagnosing cancer and other diseases. Under the terms of a definitive agreement, Quest will acquire select assets of PathAI Diagnostics, the business of PathAI that provides anatomic and digital pathology laboratory services. At closing, PathAI Diagnostics' digitized laboratory in Memphis, Tenn. will become Quest's AI and digital R&D and solutions center, supporting Quest's specialty pathology businesses, AmeriPath and Dermpath Diagnostics. PathAI will continue to support its biopharmaceutical clients with end-to-end clinical trial services capabilities at its biopharma lab, which is separate and distinct from the diagnostic laboratory business. The transaction is expected to be completed in the second quarter of 2024. Press release

PathAI has launched Pathology Universal Transformer (PLUTO), a pathology-centric foundation model, to further differentiate their portfolio of products geared towards biopharma and pathology laboratory customers. PLUTO was developed to enable a wide diversity of pathology tasks and was trained using hundreds of millions of unlabeled image patches from about 160,000 WSIs across 30+ disease areas, numerous indications, stains, scanner types and magnification, and over 50 sources of data. PLUTO will be adapted to develop the next generation of PathAI’s best-in-class products. Press release

Oxford BioDynamics is collaborating with the King's College London team in the immediate follow up of the APIPPRA trial, the largest RA prevention trial to date. The APIPPRA trial of Abatacept was a multicenter trial in 213 individuals at high risk of rheumatoid arthritis. In the immediate follow-up of the successful trial, The King's College London team has now engaged  OBD's EpiSwitch technology, which has already delivered successful results on prognosis of disease and prediction of response to treatment, to identify which patients are at the highest risk of progressing to RA and are likely to benefit from the therapeutic intervention with Abatacept, in both the short and long term. Press release

Foundation Medicine announced the U.S. launch of FoundationOne RNA, a tissue-based RNA sequencing test for the detection of cancer-related fusions across 318 genes. FoundationOne RNA enables reporting of fusions in all solid tumors and may be valuable for detecting fusions in certain cancers, such as non-small cell lung cancer (NSCLC), pancreatic cancer, cholangiocarcinoma, sarcoma, thyroid cancer and bladder cancer. This test was made available to researchers in September 2023 for research and for investigational use and is now launched for clinical use. Press release

Xcellbio and AmplifyBio have launched a partnership designed to streamline and improve the manufacturing process for engineered T-cell receptor (TCR) therapies targeting solid tumors. Scientists from AmplifyBio will work with the Xcellbio team to develop novel cell therapy manufacturing methods based on Xcellbio’s AVATAR Foundry platform. The efforts will focus on identifying key elements for successful manufacture of TCR therapies, such as product characterization matrix, correlation to metabolic profile, and potency. An IND filing is expected next year to target human papillomavirus-positive (HPV+) tumors using an engineered TCR therapy. Press release

Karius announced that the Karius Test has been granted designation as a Breakthrough Device from The Center for Devices and Radiological Health of the US Food and Drug Administration, for use in the diagnosis and management of immunocompromised patients with suspected lung infections including lower respiratory infection and pneumonia. The Breakthrough Devices Program is a voluntary program for certain medical devices and device-led combination products that provide for more effective treatment or diagnosis of a life-threatening or irreversibly debilitating disease or condition. This program is designed to expedite the development and review of these innovative medical devices. Press release

Ambry Genetics and PacBio have been selected by the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) to support the Pediatric Mendelian Genomics Research Center (MGRC) program to better understand the underlying biology of rare diseases. The GREGoR Consortium is a National Institutes of Health-funded collaborative effort which aims to transform the landscape of Mendelian disease research by identifying the underlying genetic cause of rare disease in samples from individuals for whom prior genomic analysis did not yield answers. Collaborating with Ambry Genetics and PacBio will allow enhancement of further comprehension of rare diseases and revolutionize diagnostic capabilities. Press release

Luxor Scientific and CIMA Sciences join forces for the US launch of OWLiver, an exclusive non-invasive blood test able to detect all dangerous stages of Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD), also known as Non-Alcoholic Fatty Liver Disease, and Metabolic dysfunction-Associated Steatohepatitis (MASH). The OWLiver metabolic assay meets the urgent need for a non-invasive test for identification of individuals who have “at-risk” MASH and are at high risk for progressing to end-stage liver disease. This collaboration coincides with the FDA's March 2024 approval of the first and only medication for MASH treatment, marking a transformative step forward in enhancing liver disease testing and management. Press release

QIAGEN has announced an updated version of its clinical decision support platform, QIAGEN Clinical Insight Interpret for NGS molecular profiling of hereditary and somatic diseases, has received the European Union (EU) Technical Documentation Assessment and Quality Management System certificate under the European In Vitro Diagnostic Medical Device Regulation (EU) 2017/746 (IVDR). QIAGEN Clinical Insight Interpret is the first NGS interpretation platform to be certified under IVDR for both oncology and hereditary applications. As a medical device software for clinical decision support (Class C IVD Medical Device) it conforms with regulatory policy, ensuring greater patient protection, information transparency, and data traceability. The updated certified version will be available for customers in Europe later in 2024, depending on requirements for sale in respective countries. Press release

Twist Bioscience has launched Twist Multiplexed Gene Fragments (MGFs), pools of directly synthesized double-stranded DNA up to 500 base pairs in length with no limit on sequence number to enable high throughput screening applications. Twist MGFs encompass a region large enough to span entire antibody variable domains and UTRs, providing customers with a purpose-built product to meet their needs. The expansive coding region also allows for customer customization and multifaceted design options. The pooled format of the fragments enables large-scale high-throughput screening. Press release

OM1 introduced three new products: OM1 Orion, OM1 Lyra, and OM1 Polaris powered by PhenOMTM—an artificial intelligence-powered digital phenotyping platform for personalized medicine and clinical research. OM1 is the leader in providing Real-World Evidence (RWE) insights from bench to bedside, leveraging advanced predictive and generative AI platforms coupled with deep clinical data to empower healthcare stakeholders. Press release

OGT has launched the RNA-based SureSeq Myeloid Fusion Panel, a novel next-generation sequencing tool for identifying key fusion genes implicated in acute myeloid leukemia (AML). Designed in collaboration with myeloid cancer experts, the SureSeq Myeloid Fusion Panel ensures results meet the latest clinical research recommendations by efficiently identifying over 30 key disease-associated fusions in AML—including KMT2A and MECOM fusions—in a single assay. Press release

RTI International announced that Early Check has chosen Revvity to conduct genome sequencing for the study starting in May. The agreement with Revvity will allow Early Check to continue to test newborns for hundreds of childhood-onset rare genetic conditions, many of which are not included in North Carolina’s standard newborn screening, as the study assesses critical questions about when and how to integrate genome sequencing into universal newborn screening. The agreement will also allow Early Check to expand the screening to include even more conditions and to continue offering an optional test that assesses a newborn’s genetic risk of developing type 1 diabetes in their lifetime, which approximately 80% of parents choose to receive. Press release

Revvity’s EUROIMMUN and ALPCO-GeneProof jointly announced a strategic partnership to enhance the availability of GeneProof PCR kits throughout the European Union. This collaboration brings together EUROIMMUN’s extensive distribution network and support infrastructure with ALPCO-GeneProof's innovative molecular diagnostic technologies. The agreement will also see EUROIMMUN delivering a comprehensive portfolio of 42 molecular diagnostic assays from ALPCO-GeneProof. These assays are based on the innovative “one workflow” technology, which simplifies use and ensures compatibility with a broad range of qPCR instruments. Press release

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