By Bio-IT World
February 27, 2013 | News and product briefs from around the industry. Non-invasive prenatal test launches; advances in clinical genomic diagnostics; LIMS for genomics; and products from Agilent, Stratophase, BBK Worldwide, and more.
Children’s Mercy Hospital in Kansas City, Mo., has announced that its Center for Pediatric Genomic Medicine—led by Director Stephen Kingsmore—is the first hospital to acquire Illumina’s new HiSeq 2500, the only next-generation DNA sequencing system capable of sequencing a genome in a day. The Center is starting to implement rapid genetic testing, for faster diagnosis of genetic diseases, into clinical care situations. In October, a study in Science Translational Medicine detailed a proof-of-concept process, called STAT-Seq, in which Children’s Mercy researchers used the HiSeq 2500 in combination with proprietary software programs to analyze the genome of seven patients in the hospital’s neonatal intensive care unit. The entire process—from blood draw to provisional diagnosis—took approximately 50 hours. The Center now has the capability to perform STAT-Seq at the hospital. Additional testing is needed to develop STAT-Seq from proof-of-concept to a clinical laboratory test. Read more.
Natera (see, Natera’s Secret Sauce) is launching its non-invasive prenatal screening test, Panorama, on March 1 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turner’s syndrome). Read more. In a partnership announced late this month, Quest Diagnostics will provide nationwide access to Panorama. Physician clients of Quest Diagnostics will be able to forward specimens for testing to Natera's CLIA-certified laboratory. The test will be made available to physician clients of Quest Diagnostics in certain regions in March and nationwide in the United States in April 2013. Read more.
Southern Cross University (SCU) has added TimeLogic’s Field Programmable Gate Array (FPGA) hardware to its computational tools platform. This sophisticated technology will help SCU scientists in their efforts to investigate the genetics and genomics underpinning the selection, cultivation and utilization of plants. TimeLogic’s DeCypher systems greatly increase the speed of sequence comparison by combining custom field programmable gate array (FPGA) circuitry with optimized implementations of BLAST, Smith-Waterman, Hidden Markov Model and gene modeling algorithms. Read more.
Personalis has launched its Genome Services for Research, focusing on accuracy in sequencing, analysis, and interpretation of human genomes. Personalis believes that accuracy is crucial in medicine, both in research and ultimately in clinical use. Personalis ACE (Accuracy and Content Enhanced) Technology augments exome and whole genome sequencing by targeted capture of regions that are difficult to sequence. Optimized sample prep and library construction methods are then used to address each of those challenges and, after sequencing, all of the data is combined. Read more.
Vanderbilt University and GlaxoSmithKline (GSK) have signed an agreement to collaborate on the discovery, development and commercialization of novel therapies for severe obesity. The target is the melanocortin-4 receptor (MC4-R), which is involved in energy homeostasis, the balance of food intake and energy expenditure, and in the regulation of body weight. Defective melanocortin signaling is the most common cause of severe, early-onset obesity. Under the collaboration agreement, Vanderbilt will do the pharmacology and pre-clinical testing, while GSK scientists will try to develop chemically similar compounds with improved activity and efficacy. The goal is to begin phase-1 testing in humans within three years. Read more.
Boehringer Ingelheim has chosen ChemAxon’s chemistry software platform for multiple applications across research and development, supporting in-house activities and work with external collaboration partners. ChemAxon technology will be used to store, search, calculate, and visualize chemical entities, properties and reactions, helping to streamline the progression from drug discovery to clinical candidate. ChemAxon was chosen after an extensive evaluation process that built on dimensions such as ROI, performance, robustness, scalability and future development roadmap. Press release
The New York Genome Center has chosen Sapio Science’s Exemplar LIMS as the primary lab management and electronic lab notebook (ELN). Sapio's LIMS system will initially track next generation sequencing workflows from the Illumina family of sequencers from request through analysis. Support for additional next gen sequencers will be added as needed. The software will be deployed on Apple iPads using Exemplar LIMS for Tablets solution. NY Genome Center will also be utilizing Exemplar's Materials Management capabilities for detailed tracking of reagent usage and will be processing samples for both research and clinical applications via a CLIA certified laboratory. Press release.
Exco InTouch has joined the Electronic Patient-Reported Outcome (ePRO) Consortium, a program run by the Critical Path Institute (C-Path), which strives to enhance the quality of patient reported outcomes (PRO) in the evaluation of new pharmaceuticals. The ePRO Consortium is committed to improving the quality, practicality and acceptability of electronic data capture (EDC) methods used in clinical trials for PRO endpoint assessment. Exco InTouch will work closely with other Consortium members from a number of industry-leading providers of innovative electronic data collection technologies, to develop guidelines for the adaptation of PRO measures to the appropriate ePRO solutions. Press release.
IO Informatics is announcing the commercial release of its new Sentient Knowledge Explorer 5.0 for analyzing, visualizing, and managing data. Knowledge Explorer (KE) 5.0 features improved visualization, improved performance on large datasets, and enhanced back-end connections. Semantic technology is rapidly becoming a ubiquitous integration, discovery and knowledge building resource, applied across a growing number of health care and life science research environments. Press release.
Agilent Technologies introduced HaloPlex exome kits and SureCall software. The new additions are designed to complement Agilent's Web-based SureDesign and custom HaloPlex gene panels to provide a complete, integrated workflow. The HaloPlex exome kit comprises about 2.5 million probes to provide efficient and comprehensive coverage of the coding regions of the human genome with minimal hands-on time and requires only 200 ng of input DNA. SureCall data analysis software is designed to maximize clinical laboratory throughput by simplifying the analysis workflow for next-generation sequencing data with a three-step workflow process that translates raw data into a report with genetic variants classified and ranked in a matter of hours. Press release.
Stratophase, a world-leading provider of automated feeding systems has launched Ranger Solo, its sensor for inclusion in single use bioreactors. Ranger Solo provides real-time, in-line bioprocess feeding control to increase yields of fully functional biologics. The Ranger Solo technology targeted at single use systems offers the same functionality as the company’s Ranger Probe product, which enables automated feeding control in stainless steel and glass reactors. In combination with the Ranger Manager, an intelligent mutli-probe management system, Ranger Solo can be integrated into all bioprocessing systems enabling bioprocess managers to automate their feeding regimes by observing the metabolic rate of their process in real time. In addition Ranger can be used to rapidly determine, identify and react to key process characteristics, such as maximum metabolic rate and process completion. Read more.
BBK Worldwide has launched an expanded suite of products that streamlines retention efforts at the site level. Among these products are the Ready. Set. Go. Card (RSG Card), Ready. Set. Go. Ride (RSG Ride), and Ready. Set. Go. Minder (RSG Minder). These products are customized for today’s clinical research coordinator who is tasked with multiple responsibilities and demands. Through the efficiencies these products create, the clinical research coordinator is allowed to focus his or her efforts on other study-related priorities. Each individual product addresses a specific retention function. The RSG Card is a global reimbursement solution for clinical study participants. RSG Ride offers a convenient way to schedule and manage patient transportation. RSG Minder is a customized mobile platform that supports study participants and assists them in managing their study obligations. Read more.