Cartagenia Launches Advanced Genetic Variant Assessment Platform for NIH Undiagnosed Disease Program

BOSTON and BETHESDA, Md., Oct. 30, 2014 /PRNewswire/ -- Cartagenia, a leader in providing genetic labs and clinicians with software-based workflow support for variant assessment, lab reporting, and integration of diagnostic knowledge-bases, announced today the successful launch of a software platform for genetic variant assessment and reporting within the National Institutes of Health (NIH) Undiagnosed Disease Program (UDP).

Over the past year, Cartagenia has been engaged by NIH to build a tailored version of the Cartagenia Bench Lab platform – a clinical-grade software solution for variant interpretation support and reporting -- for the clinical assessment of variants identified through exome sequencing in the NIH UDP program.

NIH UDP integrates medical specialties, scientific expertise, and sequencing resources

The Undiagnosed Diseases Program at the NIH is a clinical site of the Undiagnosed Diseases Network, which aims to provide answers to patients with unsolved conditions that have long eluded diagnosis, and to advance medical knowledge about rare and common diseases. The network is funded by the NIH Common Fund.  UDP is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research and the NIH Clinical Center.

Unique collaboration brings new tools to clinical genetics

In 2013, NIH awarded the software development contract to Cartagenia based on the company's expertise in clinical variant assessment. Cartagenia also offered key expertise in the field of clinical genetics software, an experienced team of scientists, and a large customer base – which sets the scene for a broad adoption of the software approach.

David Adams, M.D., Ph.D., deputy director of clinical genomics in the NHGRI Office of the Clinical Director commented: "The experience of the NIH UDP suggests that many undiagnosed cases are best solved by a collaborative approach, which includes research scientists, bioinformaticians, clinical geneticists, and other medical professionals. Our goal in choosing a commercial product with a rich, web-based interface was to move away from single-expert-user bioinformatics scripting and toward accessibility for all the stakeholders who could potentially contribute to genomics interpretation." 

Herman Verrelst, CEO of Cartagenia, stated: "During our collaboration over the past year, our teams have worked together intensively. We were very pleased to see a broad group of researchers and doctors at NIH UDP contribute their expertise to this project. For us, this has proven to be a tremendous opportunity: we've been able to further extend our product with features relevant to undiagnosed and complex inherited disease. These new capabilities all make it into our commercial product – Cartagenia Bench Lab -- so the results from our work with NIH is available to our entire customer base of routine diagnostic, academic and private labs and clinics."

Steven Van Vooren, one of the scientific founders at Cartagenia, confirmed that the collaboration has already resulted in a strong competitive advantage for Cartagenia. "This collaboration has lead to unique features such as capabilities to analyze complex families, an advanced module for compound heterozygosity analysis in addition to the various inheritance modes already supported, taking into account phenotype and family structure in variant assessment, and capabilities to deal with very large reference cohorts, to name a few," Van Vooren said. "This really gives us an edge. It provides unique added value for customer labs dealing with rare disease."

William A. Gahl, M.D., Ph.D., NHGRI clinical director and director of the NIH UDP added: "Cartagenia has translated our ideas and approaches into robust, clinical-grade software. This way, NIH expertise and our specialization in undiagnosed diseases can make a difference for a large number of clinical and academic labs where tools like these are used by clinical geneticists and lab directors working every day to end the diagnostic odyssey for patients."

Wide availability

The integrated platform will be demonstrated for other clinical sites of the Undiagnosed Diseases Network (UDN) at academic medical centers across the country that contribute local medical expertise to the UDN.  

The collaboration between NIH and Cartagenia has been extended into 2015 to allow to build additional components and validate them in the routine UDP setting.  

Cartagenia is including components co-developed with NIH in its flagship software suite, Cartagenia Bench Lab. Cartagenia will be demonstrating these new capabilities at the upcoming AMP (Association for Molecular Pathology) 2014 meeting Nov. 12-15 at Gaylord National Resort & Convention Center, National Harbor, MD.

About NIH UDP
Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program (UDP), a clinical site of the Undiagnosed Diseases Network, pursues two goals: to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about rare and common diseases. The program is funded by the NIH Common Fund.  It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. It combines medical specialties and expertise from other NIH research centers and institutes.

rarediseases.info.nih.gov/undiagnosed  

About Cartagenia
Cartagenia supplies diagnostic support 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.

Cartagenia Bench Lab allows automation of variant assessment protocols and lab report generation for structural and molecular variant assays such as Arrays, Sanger and Next Generation Sequencing. It supports communication with referring physicians, allows labs and clinicians to put variants in their clinical context, and supports confident data sharing.

The Cartagenia Bench platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, Bench Lab addresses the specific needs of genetic diagnostic labs and clinicians.

Cartagenia Bench 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

Contact:

CARTAGENIA
Herman Verrelst
CEO Cartagenia
Technologielaan 3
3001 Leuven
T : +32 16 40 40 66
E : [email protected]
www.cartagenia.com

Allen & Caron
Len Hall
VP Media Relations
T : 1 949 474 4300
E : [email protected]  
www.allencaron.com

SOURCE Cartagenia

Related Links

http://www.cartagenia.com