November 2, 2017 | October featured news, products, and partnerships from around the diagnostics community from numerous companies, universities, and organizations, including UCLA, Dana-Farber Cancer Institute, Genestack, and more.
In a publication in Genome Medicine, a team of researchers from Children’s National Health Center (CNHC) and the University of California, Los Angeles (UCLA) led by Eric Vilain report the first molecular diagnoses of patients with genetic disease using Bionano genome mapping. The scientists used Bionano and Saphyr systems to identify pathogenic structural variants in a series of patients diagnosed with Duchenne muscular dystrophy (DMD), caused by large deletions, insertions, and inversions disrupting the X-linked dystrophin gene. DMD is a severe degenerative muscle disorder mostly affecting boys, for which there is currently no cure. Press release
Global health organizations are proud to announce the launch of the very first, web-based pathway for tuberculosis (TB) diagnostics and adjunct technologies. The TB Diagnostics Pathway is a common good resource that will be owned by everyone in the TB community and regularly updated. The site was conceived as a tool to help innovators develop their ideas from research to roll-out, offering guidance on the critical activities to follow and right partnerships to pursue. The TB Diagnostics Pathway will help standardize research, commercialization and roll-out procedures to speed the introduction of promising, new TB diagnostics and adjunct technologies. Among the site’s sponsors, on hand for the launch at the Accelerator for Impact’s (a4i) 1st Innovators & Adopters Workshop, are FIND, McGill International TB Centre, Stop TB Partnership, Unitaid, and the World Health Organization. The workshop takes place on the sidelines of the 48th Union World Conference on Lung Health in Guadalajara, Mexico. Press release
Investigators from Brigham and Women’s Hospital and Dana-Farber Cancer Institute are leveraging the power of artificial intelligence to develop a new technique to detect ovarian cancer early and accurately. The team has identified a network of circulating microRNAs – small, non-coding pieces of genetic material – that are associated with risk of ovarian cancer and can be detected from a blood sample. Their findings are published online in eLife. The team looked at a set of molecules called microRNAs – non-coding regions of the genome that help control where and when genes are activated. Press release
Foundation Medicine announced that the company will present validation data for FoundationOne CDx, its comprehensive genomic profiling assay, at the International Association for the Study of Lung Cancer (IASLC) 18th World Conference on Lung Cancer (WCLC). Data demonstrated high concordance with multiple companion diagnostics and other single marker assays currently used to match targeted therapies to people with certain types of non-small cell lung cancer (NSCLC), melanoma, colorectal cancer, ovarian cancer or breast cancer. The availability of a comprehensive genomic profiling assay that is concordant with multiple companion diagnostics has the potential to advance personalized healthcare for all constituents by providing biopharma companies a platform for accelerated drug development and by improving efficient access to targeted therapies for patients. FoundationOne CDx is a comprehensive genomic profiling (CGP) assay that incorporates multiple companion diagnostics in a single platform with molecular profiling of the 320+ genes known to drive cancer growth. These validation data are also included in the Premarket Approval Application (PMA) for FoundationOne CDx which is currently under review by the U.S. Food and Drug Administration (FDA) and also by the Centers for Medicare & Medicaid Services (CMS) as part of their Parallel Review program for breakthrough devices. FoundationOne CDx is not commercially available at this time. Press release
Queen’s University Belfast have led the world’s largest research study using a diagnostic test developed by Almac Diagnostics, to better understand the biology of prostate cancer tumors, which could lead to a transformation in how prostate cancer is diagnosed and treated. Almac Diagnostics has developed a gene expression biomarker, known as Metastatic Assay, which aims to identify prostate cancer patients with aggressive disease. The test analyses the genetics of the tumor enabling clinicians to understand the type of tumor, whether it is a slow-growing or aggressive and if the latter, to what extent. Researchers at Queen’s University Belfast led the world’s largest study of this kind, using Metastatic Assay on prostate biopsies from 248 patients who had previously been treated for prostate cancer. The research findings, published in Annals of Oncology, found the diagnostic test to be more effective than the standard clinical tests. Press release
Mauna Kea Technologies announced the publication of a new study highlighting significant potential cost savings in a French economic model when diagnosing pancreatic cysts with Cellvizio. The study titled, “A health economic evaluation of needle-based Confocal Laser Endomicroscopy for the diagnosis of pancreatic cysts,” was published on October 9, 2017 in Endoscopy International Open, a peer-reviewed, open access journal in the field of gastrointestinal endoscopy. The study was led by Claude Le Pen, Professor of Health Economics at the Paris-Dauphine University, in Paris, France. The study evaluated the health economic benefit of the diagnosis of benign cysts with Endoscopic Ultrasound and Fine Needle Aspiration (EUS-FNA) plus needle-based CLE with Cellvizio, compared to the standard of care of EUS-FNA alone. Several clinical studies have shown that visualization of specific cell patterns in real-time through optical biopsy with Cellvizio enables a more confident diagnosis leading to improved diagnostic accuracy. Press release
"As sequencing technology shrinks to the size of a key ring and emerging technologies make it possible to track changes to the genome at single cell level, then all of a sudden genomics data becomes a streaming and wearable dataset," says Imad Yassin, Vice President of bio data management company Genestack, in a statement. He is explaining why an ecosystem approach is needed for drug discovery and how the company will support members of the Milner Therapeutics Institute in delivering this. “Real world evidence from patients is beginning to come into play. In an era of precision medicine these huge longitudinal clinical datasets will be a rich source of knowledge for drug development,” Yassin continues. “Data production is cheap and processing power readily available; the big challenge is now to create tools to manage, search, aggregate, and analyze these data sets.” Press release
Genomics Medicine Ireland announced a new research collaboration with leading Dublin hospitals St. Vincent’s University Hospital / University College Dublin Clinical Research Centre and Tallaght Hospital which aims to identify genetic markers that can help diagnose, predict disease severity and identify personalised treatments for people with Inflammatory Bowel Disease (IBD). People with IBD are being invited to participate in the study, which is the first comprehensive genomic study of IBD to be undertaken in Ireland. Press release