BOSTON and GREENWOOD, S.C., March 19, 2013 /PRNewswire/ -- Cartagenia, the world leader in providing genetic labs and clinicians software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, announced today that it has signed a license agreement for its BENCHlab NGS and CNV solutions with South Carolina-based Greenwood Genetic Center, a non-profit institute that provides clinical genetic services and diagnostic laboratory testing.
Cartagenia's NGS product is tailored to support the adoption of Next Generation Sequencing technology in clinical practice and focuses on standardizing the data interpretation process. The NGS product was created to handle such data as gene panels, exomes and whole genomes and to automatically generate clinical reports specific to Greenwood's needs.
After developing the product and using it extensively in Europe, Greenwood is the first US customer to license the NGS product.
The Cartagenia BENCHlab CNV solution is a product that helps labs deploy microarray testing for prenatal diagnosis, as well as a seamless transition from prenatal to continued post-natal follow-up.
"We generate DNA sequencing data on large portions of the genome and Cartagenia's products facilitate the sorting, filtering and organization of these data and ultimately aid in the process of interpreting the genetic alterations," said Mike Friez, Greenwood's Director of Diagnostic Laboratories, adding that while most of Greenwood's clinical samples originate in South Carolina, they also receive samples from around the country and even internationally. "The amount of raw information produced by these types of tests creates a complex data management and reporting challenge. While such new technologies may be very effective at helping us to determine the underlying genetic alterations, we generate reams of data that we need to manage, understand and translate for the benefit of the patients and their families."
Cartagenia's BENCHlab NGS solution was designed to support the four essential steps in robust and reliable NGS data analysis: To store and annotate genomic variants and patient information, explore and identify disease mutations, validate clinical findings and interpretation workflows and automate lab reporting.
BENCHlab CNV helps laboratories perform fast and accurate variant assessment by providing extensive, integrated reference data and automated searching against lab-managed CNV sets and public databases of known aberrations. It was developed to be a powerful reporting engine that drafts comprehensive, high-quality lab reports with minimal effort, noted Cartagenia CEO Herman Verrelst.
"We designed our BENCHlab products to be straightforward and user-friendly," Verrelst said. "Our goal is to make diagnostic laboratory testing a routine part of a lab's practice with a system optimized exactly for a lab like Greenwood's needs."
Cartagenia products are HIPAA compliant and ISO13485 certified.
About Greenwood Genetic Center
Greenwood Genetic Center is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. Its mission is to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources and research in the field of medical genetics. Based in Greenwood, SC, with satellite offices in Charleston, Columbia, Florence and Greenville, GGC extends its reach to all residents of South Carolina. For more information, visit www.ggc.org.
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 careers high-quality genetic interpretation and counseling.
The Cartagenia BENCH platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, BENCHlab CNV addresses the specific needs of genetic diagnostic labs and clinicians.
Cartagenia BENCHlab CNV is built using a certified ISO13485 Quality Management System and is marketed as an FDA regulated 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.