BOSTON and LEUVEN, Belgium, March 26, 2014 /PRNewswire/ -- Cartagenia, the world leader in software-based workflow support for genetic variant assessment, lab reporting, and integration of diagnostic knowledge-bases, today announced that the Human Genetics Laboratory, part of the Munroe-Meyer Institute for Genetics and Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC), has selected the Cartagenia Bench platform genetics diagnostics solution for use at its healthcare laboratory. Cartagenia Bench is a cloud-based platform that allows genetics labs and clinicians to analyze, interpret, report, and share genomic variants in routine clinical diagnostics.
Jennifer N. Sanmann, PhD, MB(ASCP)CMCGCM, a representative of the Human Genetics Laboratory at UNMC, noted that its laboratory's adoption of Bench has helped them track their lab findings in a single, well-annotated database and has led to significantly reduced report turnaround times.
"Our laboratory's experience with Cartagenia has been a very positive one," Dr. Sanmann said. "The transition from our internally developed system to Bench CNV and Bench NGS went smoothly and was well supported by the Cartagenia team. It has been our experience that the Bench modules have reduced significantly the amount of analysis time per case and have improved our ability to track and query identified variants."
"The boundary between molecular genetics and cytogenetics testing is fading. NGS technology is being adopted to determine structural events; public registries such as ClinVar collect both CNVs and SNPs; and most importantly, structural variation and molecular variation are more and more often used to jointly explain the patient phenotype, and reach a diagnosis," says Steven Van Vooren, Product Marketing Director at Cartagenia. "At Cartagenia, we strongly believe in a 'single platform' approach, where joint clinical interpretation of structural and molecular events comes natural, and is agnostic of the technology used to pick up variants."
The Cartagenia Bench platform is a clinical-grade, medical device software platform that supports the assesment and reporting of structural variants such as copy number gains, losses, and changes in zygosity, as well as molecular events such as single nucleotide events, and small insertions and deletions.
"We see strong growth in labs adopting both our NGS and CNV modules on the Bench platform, and bringing together structural and molecular variants in their interpretation and reporting," says Herman Verrelst, CEO of Cartagenia. "At Cartagenia, we want to facilitate this evolution, allowing labs to automate their workflow as much as possible and use the time won to focus on the clinical setting in which to assess and report variants – whether postnatal, prenatal or in oncology."
UNMC's Human Genetics Laboratory is a CAP and CLIA accredited full service cytogenetic and molecular genetic laboratory combining comprehensive genetic testing with personalized clinical consultation to provide the very best in genetic medicine to every client and patient served. As genetic disease continues to become more widely identifiable, customized technology and new assays are developed and validated, meeting expanding clinician and patient needs through advancements in systems, software, and diagnoses. In addition to diagnostic and research studies in the areas of perinatal, postnatal, and oncology testing, comprehensive services at UNMC include clinical evaluation by licensed genetic counselors and board certified medical geneticists. Visit unmc.edu/geneticslab to learn more.
Cartagenia supplies diagnostic software, database systems, and related services to genetic labs and clinicians, enabling them to perform clinically relevant genetic analyses quickly and efficiently, and offer patients and carers high-quality genetic interpretation and counselling.
The Cartagenia Bench platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, Bench Lab NGS addresses the specific needs of genetic diagnostic labs and clinicians.
Cartagenia Bench Lab is built using a certified ISO13485 Quality Management System and is registered with the FDA as an exempt Class I Medical Device in the United States and as a Class I Medical Device in Europe in conformity with the essential requirements and provisions of the Council Directive 93/42/EEC concerning medical devices, and with the relevant harmonized standards EN ISO62304. www.cartagenia.com