September 26, 2017 | September featured news, products, and partnerships from around the diagnostics community from numerous companies, universities, and organizations, including N-of-One, PerkinElmer, SpeeDx, and more.
ARUP Laboratories and IDbyDNA announced the launch of Explify Respiratory, a novel next-generation sequencing (NGS) test for respiratory infections. The test is now available to ARUP’s 3,000-plus clients across the country, providing a new solution for thousands of physicians who currently experience difficulty in diagnosing and treating patients with pneumonia and other respiratory diseases. This is the first in a line of tests the two companies intend to launch as part of a previously announced strategic partnership to develop and commercialize novel infectious disease testing using metagenomics. This hypothesis-free approach to infectious disease testing uses DNA and RNA analysis to quickly identify bacteria, viruses, fungi, and parasites in patient samples. “Other available tests are frequently unsuccessful and inefficient in identifying the cause of respiratory infections, prolonging the diagnostic process and leaving infectious disease physicians, pulmonologists, and intensivists to treat patients empirically,” says Charles Dela Cruz, an associate professor of Internal Medicine and Microbial Pathogenesis at Yale University School of Medicine and director of its Center for Pulmonary Infection Research and Treatment, in a press release. Press release
N-of-One announced the incorporation of the recent AMP guidelines on reporting somatic cancer variants with enhanced levels of evidence (LOE) into N-of-One’s existing curation and reporting. In December of 2016, to address the field’s need for consistent interpretation and reporting of somatic cancer variants from next generation sequencing platforms, the Association for Molecular Pathology (AMP), with liaison representation from the American College of Medical Genetics and Genomics (ACMG), American Society of Clinical Oncology (ASCO), and College of American Pathologists (CAP), released new recommended guidelines for classifying the clinical impact of variants based on diagnostic, prognostic, and treatment predictive evidence. Powered by a robust proprietary knowledgebase, N-of-One is already recognized as an industry leader for its ability to deliver high-quality, actionable, patient-specific treatment options supported by the latest clinical evidence. With an eye to that leadership, N-of-One has incorporated these variant tiers and enhanced LOEs into their curation and reporting, which will empower key stakeholders to address AMP guidelines without the significant effort that is required to mapping tiers on a case-by-case basis. Further, N-of-One clients will be able to rely on the company’s extensive in-house clinical expertise to categorize variants and maintain tiers and LOEs as the guidelines continue to evolve. Press release
SpeeDx has announced a distribution agreement with Diagen. This agreement will open important sales channels in Sweden, Norway and Denmark for SpeeDx’s PlexPCR and unique, multiplexed ResistancePlus real-time polymerase chain reaction product lines. Diagen has a strong reputation for providing advanced sales and support to hospitals, universities and research laboratories across Scandinavia. Using SpeeDx’s proprietary technology, the PlexPCR range will allow Diagen’s customers to obtain complex diagnostic information on sexually transmitted infections or other infectious diseases from a single, cost-effective test. The agreement will also give them access to the groundbreaking ResistancePlus assay. This is the first CE-IVD test to simultaneously detect Mycoplasma genitalium and genetic markers for azithromycin resistance, as recommended by the new European guidelines on M. genitalium resistance screening in the management of non-gonococcal urethritis. Press release
BD (Becton, Dickinson and Company) announced the launch of BD Rhapsody, a platform for single cell analysis with the ability to detect rare molecules responsible for biological diversity that are often missed with whole transcriptome profiling. Developed using the company’s patented unique molecular index (UMI) technology, BD Rhapsody is a complete system of reagents, instruments and software for targeted gene expression analysis of tens of thousands of individual cells. The product was previously in limited commercial release under the name Resolve. BD will offer both application-specific targeted panels and enable customers to design their own custom, targeted panels. The BD Rhapsody platform assay offering will be rapidly expanded over the next 12 months. Shortly after launch, customers will be able to multiplex many samples in one run with the BD single-cell multiplexing kit, significantly increasing sample throughput while maintaining the low doublet rate. The platform is also being expanded beyond RNA expression to include protein detection, leveraging BD’s extensive antibody portfolio with BD AbSeq assays for protein expression. Press release
Curetis and MGI announced that they have signed a Memorandum of Understanding (MoU) for a broad collaboration to develop targeted Next-Generation Sequencing (NGS) IVD assays for microbial infections. The assay will target a comprehensive panel of pathogens and genetic antibiotic resistance markers and will be applicable to a wide spectrum of native patient sample types. The intended laboratory workflow will combine the Unyvero L4 Lysator by Curetis with MGI's SP100 Sample Preparation System and MGISeq NGS Sequencers to allow fully automated lysis, DNA extraction, NGS library preparation and sequencing or an integrated workstation. The resulting NGS data will be interpreted for pathogen identification and genetic antibiotic resistance markers by an app as a part of the data analysis software. The app will be developed by Ares Genetics, a wholly-owned subsidiary of Curetis based in Vienna, Austria. The assay will be commercialized by MGI in Greater China first and potentially by Curetis in other geographies. Financial details were not disclosed. Press release
PerkinElmer announced an innovative collaboration with In-Depth Genomics (IDG) to support IDG’s Whole Genome Sequencing (WGS) Diagnostic Program that will bring genetic diagnosis to patients across a wide range of neurological conditions including rare/orphan disorders. This collaboration will help pave the pathway towards improved diagnoses and treatments. IDG, which will offer its program to any U.S. physician, will also be funding the initiative at no cost to the patient, thereby providing universal access to the latest diagnostic technology. The program plans to ultimately sequence 100,000 genomes of patients who suffer from rare and undiagnosed conditions. This program will leverage the large network of neurologists that IDG’s leadership has previously worked with to screen approximately 2,500 patients through a gene panel. IDG is actively seeking pharmaceutical and biotech partners who share the vision of transforming the landscape of diagnoses and therapies. PerkinElmer will provide clinical WGS, interpretation services, and diagnostic report generation to IDG. IDG will use the de-identified genomic and clinical data to support R&D in hundreds of rare neurological conditions. Press release
Intermountain Precision Genomics announced the introduction of “RxMatch”, a new service to all Intermountain Healthcare providers. This new service will enable physicians to implement personalized medicine when prescribing medications. Intermountain Precision Genomics launched the RxMatch Anti-Depressant Panel on September 5. Officials from Intermountain Healthcare and CNSDose announced that Intermountain Precision Genomics RxMatch Antidepressant Panel will be powered by CNSDose. CNSDose is a company chosen by Intermountain to deliver decision support based on cutting-edge knowledge of liver and blood-brain-barrier metabolism of antidepressant medications. This test allows physicians to utilize patients’ genomics to find the right antidepressant faster than using current trial and error methods. According to Mark Heinemeyer, CEO of CNSDose, “CNSDose provides a best-in-class resource backed by research. CNSDose is the most rigorously tested tool on the market and is proven to ‘Fast-Track Finding the Right Antidepressant.’” The rollout to Intermountain Healthcare physicians will start with a pilot program in Southwest Utah. Patients will supply a DNA sample using a cheek swab collected in their physician’s office. The DNA sample will then be analyzed at Intermountain Precision Genomics Core Laboratory in St. George. According to David Loughmiller, Laboratory Manager for Intermountain Precision Genomics, “The objective of the RxMatch project is to provide the most comprehensive and evidence based information to the physician, thus decreasing the amount of time and money spent to achieve the correct medication at the lowest possible cost to the patient.” Press release
OTraces has announced plans to launch a laboratory developed test (LDT) and CLIA lab as a new Active Surveillance (AS) protocol to monitor men with low-risk prostate cancer. U.S. medical practice for treating low-risk prostate cancer patients has evolved from therapy or surgery to AS. Currently, AS monitoring programs rely on regular PSA testing, repeated rectal exams and biopsies to monitor the cancer, all of which have limitations in their ability to reliably detect the progression from low-risk to high-risk cancer. Experts in prostate cancer research agree that the biggest challenge in AS is the reliable detection of tumor progression before it is too late. The OTraces blood test, TME Liquid Biopsy, measures relevant protein markers that represent the body's response to the presence and changes in the stage of disease, in this case low-risk to high-risk prostate cancer. OTraces’ management believes its TME Liquid Biopsy assay, which derives diagnostic content from the tumor microenvironment (TME), is the only blood test that has demonstrated high accuracy in detecting tumor progression. The performance of the TME Liquid Biopsy test has been demonstrated consistently in internal and third party validation trials including recent tests conducted at Johns Hopkins University under the direction of Kenneth Pienta. The tumor microenvironment has been the topic of discussion, including a recent story in Diagnostics World.