August 31, 2017 | August featured news, products, and partnerships from around the diagnostics community from numerous companies, universities, and organizations, including DNAstack, CareFirst, iCubate, and more.
DNAstack announced the launch of a major update to its cloud-based genomics software platform. The update contains many new features, including a revolutionary application called Workflows that makes it easier and more affordable than ever for genome scientists to find, develop, share, and run bioinformatics workflows at scale. The app brings the most advanced technologies and standards for bioinformatics to market and positions DNAstack as a commercial leader in cloud genomics. Users of the Workflows App can choose from a growing selection of high quality, curated pipelines like Broad Institute's GATK Best Practices, a popular end-to-end genotyping toolkit, or author their own custom analyses. The Workflows App runs pipelines written in the Workflow Description Language (WDL), a language developed at the Broad Institute that is being adopted as a community standard. “WDL enables analysts to create and understand pipelines with as little friction as possible,” Jeff Gentry, Senior Principal Software Engineer at the Broad Institute and co-chair of the Containers & Workflows Task Team at GA4GH, said in a press release. “The ability to execute those pipelines in different environments, like DNAstack, is critical to the success of the whole ecosystem.” DNAstack’s application includes a WDL editor for authoring workflows that gives bioinformaticians and software developers a unified platform for developing, refining, and running their pipelines in the cloud. Press release
iCubate announced that it has earned U.S. Food and Drug Administration (FDA) clearance for its iCubate platform, the iC-System, and its first clinical assay, the iC-GPC Assay, used for the rapid detection of pathogenic bacteria associated with bloodstream infection (BSI). The FDA clearance allows iCubate to market, sell and distribute the cleared products to U.S. Clinical Laboratories. “This major milestone of FDA clearance is a testament to the dedication of the iCubate team and their commitment to improving patient treatment through better diagnostics,” said Carter Wells, Chief Executive Officer of iCubate, in a press release. “We are looking forward to providing this product to the clinical laboratories that need better options to identify organisms and resistance markers associated with bloodstream infection.” Press release
CareFirst BlueCross BlueShield (CareFirst) and Exosome Diagnostics (ExoDx) announced that they have signed an agreement to collaborate on evidence development studies for ExoDx diagnostic tests. The collaboration is designed to evaluate new products using clinical outcome and cost analyses with the goal of accelerating health plan coverage for products demonstrating measurable benefits for patient care. The agreement is the first in a series of such agreements through CareFirst’s new HealthWorx program, that enables CareFirst to work with small, early stage companies to bring new technologies and care advances to CareFirst’s members and providers with the goal of improving health care quality and reducing costs. Under the terms of the agreement, CareFirst will become ExoDx’s preferred partner for evidence development studies. CareFirst and ExoDx will mutually agree on the diagnostic tests to be studied, the extent and qualifications of providers participating in these studies, and the study endpoints. The initial collaboration between ExoDx and CareFirst will center on the company’s EPI test (ExoDx Prostate IntelliScore). The EPI test is a “rule out” test designed to more accurately predict whether a patient presenting for an initial biopsy does not have high-grade prostate cancer and, thus, could potentially avoid the discomfort, complications and cost of an initial biopsy and, instead, continue to be monitored. Press release
The Bladder Cancer Genomics Consortium (BCGC) and Hoosier Cancer Research Network announced the selection of Caris Life Sciences to perform genomic profiling for UC-GENOME, a large-scale genomically driven bladder cancer study. The study, also known as HCRN GU15-217, is the first project of the BCGC, a collaborative effort between the Bladder Cancer Advocacy Network and major medical centers recognized for their expertise in bladder cancer. Bladder cancer is the sixth most commonly diagnosed cancer in the U.S., with more than 79,000 new cases and 16,800 deaths estimated in 2017. Caris will identify and report molecular aberrations via Next-Generation Sequencing of 592 DNA genes (point mutations, copy number variations and insertions/deletions), 53 RNA gene fusions, Microsatellite Instability (MSI), and Total Mutational Load (TML) to aid clinicians in delivering the most optimal and personalized treatment plan for bladder cancer patients and to facilitate the development of novel therapeutics. Press release
Cancer and heart disease are the two leading causes of death in the United States. So far, Color Genomics has been focused on testing for mutations leading to a higher risk of certain cancers. But, today the four-year-old company is introducing a new category of genetic testing for cardiovascular health. The new Color Hereditary High Cholesterol Test will tell you if you have a genetic mutation for something called Familial Hypercholesterolemia (FH), a hereditary condition that causes high cholesterol levels leading to coronary heart disease. Site
Biocept announces that it has signed an exclusive global Distribution Agreement excluding China, for the Company's proprietary blood collection tubes (BCTs) with VWR International (VWR), the leading global independent provider of product and service solutions to laboratory and production customers. Biocept's BCTs allow for the intact transport of liquid biopsy samples for research use only from regions around the world. Commercial launch is anticipated to begin in the second half of 2017. Press release
David A.H. Whiteman, FACMG of
Shire, has been named vice-president of the
ACMG Foundation for Genetic and Genomic Medicine Board of Directors, the supporting educational foundation of the
American College of Medical Genetics and Genomics. The ACMG Foundation is a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants in serving as advocates for the Foundation and for advancing its policies and programs.
Press release Madhuri Hegde, FACMG of
PerkinElmer, in Waltham, MA, recently covered by
Diagnostics World, has also been elected to the ACMG Foundation for Genetic and Genomic Medicine Board of Directors, the supporting educational foundation of the American College of Medical Genetics and Genomics. The ACMG Foundation is a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants in serving as advocates for the Foundation and for advancing its policies and programs. Hegde has been elected to a 2-year renewable term starting immediately.
Press release