BOSTON & LEUVEN, Belgium--(BUSINESS WIRE)--Cartagenia, the world leader in providing genetic labs and clinicians with software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, today announced that more than 120 labs and clinics across three continents have now adopted and are relying on its Bench platform genetics diagnostics solution for use in daily practice. Bench is a web-based software and database platform with features and knowledge sources that allows clinicians to analyze, interpret and manage genomic variations in routing diagnostics.
Cartagenia CEO Herman Verrelst said the marked success of the Bench platform underscores a true need for clinical grade tools for lab variant assessment and reporting support in the rapidly expanding world of genetic diagnostics.
“It is very rewarding to see the enthusiastic response we are receiving for our Bench solutions in all our key markets and across three continents,” Verrelst said. “We believe this reflects very strong growth in NGS adoption and a clear need for diagnostic-grade solutions in lab interpretation and reporting workflow automation, integration with the referring physician and hospital IT, and linking to the community through data sharing initiatives … all tools that Cartagenia Bench platform provides.”
Cartagenia also announced that it has released a new version of its Bench Lab NGS module, the powerful software and database solution for robust and reliable NGS variant analysis, interpretation and reporting pipelines.
The new version of the NGS module is focused on increasing a lab’s efficiency through faster report generation and has added:
- Flexible templates that allow lab reports to automatically adapt to patient findings.
- The introduction of nuclear family analyses that take into account parent and sibling genotype and affected status, as well as the mode of inheritance hypotheses.
- A further extension of version tracking, validated target panels and controlled transition to new annotation sources.
- Reference set cohort building tools for deriving variant statistics from large sample sets and filtering new assays against them in high throughput.
Greenwood Genetic Center, a South Carolina-based, non-profit institute that provides genetic services and diagnostic laboratory testing, adopted Bench Lab NGS in 2012. Mike Friez, Greenwood’s Director of Diagnostic Laboratories, noted that his lab generates DNA sequencing data on large portions of the genome and Cartagenia’s Bench Lab product facilitates the sorting, filtering and organization of these data.
“Implementing the Cartagenia Bench Lab NGS platform has significantly impacted our ability to effectively manage and interpret data for our targeted NGS panels as well as the exomes generated from our undiagnosed patients,” Friez said. “By pooling a variety of powerful resources, Cartagenia really does enable us to make progress in assisting the families we serve.”
Jean-Louis Mandel, Professor of Genetics at the Faculty of Medicine of Strasbourg, France, and Head of the Human Molecular Genetic Group at the IGBMC, noted that he is impressed by the collaborative approach set up with Cartagenia.
“We have seen the Bench Lab NGS platform evolve rapidly over the period of time we’ve worked with Cartagenia to evaluate the software and run it on our own research and diagnostic samples,” Prof. Mandel said. “Cartagenia speaks the language of clinical geneticists, and I’m looking forward to having many fruitful and constructive discussions that will undoubtedly lead to yet more new analysis and interpretation support features of wide interest.”
Verrelst confirmed the importance of this collaborative approach.
“The lab of Prof. Mandel will automate its NGS-based exome and panel analysis on our platform. Prof. Mandel is a key opinion leader in France, and we are all looking forward to working with him and his bio-informatics team and are confident that we will be able to show a significant added value from working with Bench Lab NGS as well as learn from our customers,” Verrelst said. “We receive a lot of input on a regular basis and we are constantly expanding and improving our products based on this.”
Also recently, Mater Hospitals in Brisbane, Australia, and the Life and Brain genetics lab associated with the University of Bonn, Germany, and Groningen University Medical Center in the Netherlands have decided to adopt Bench Lab NGS.
“We thoroughly evaluated the Bench Lab NGS platform on a number of our diagnostic samples because we wanted to validate the performance of the platform in our own hands, and prove the efficiency gains we expect it to bring to our lab,” said James Speet, Medical Liaison Manager, Mater Health Services. “After a successful trial, we decided to go ahead with Bench Lab NGS for our panel diagnostics. We expect testing volumes to grow significantly over time, and the Bench Lab NGS should provide the tools we need for automation and standardization of our interpretation workflow and our lab reporting.”
Dr. Hartmut Engels of the Institut für Humangenetik Biomedizinisches Zentrum Universitätsklinikum Bonn commented: “Life and Brain has been using the Cartagenia Bench Lab platform for quite some time in our CNV diagnostics for intellectual disability referrals with Illumina SNP arrays and Bench really helps to speed up our work. The system is both reliable and flexible – we have been able to adapt and customize the filter settings for different applications.
“We have now also adopted the Bench Lab NGS module to develop an analogous interpretation pipeline for our diagnostic NGS applications – with a same approach in NGS diagnostics as for CNV diagnostics,” said Dr. Engels. “We’re confident that we’ll save a lot of time and headaches in our routine diagnostic workflow in our upcoming NGS diagnostic testing.”
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 counseling.
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.