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BioDiscovery Enters New Market with Launch of Tailored Software for Clinical CNV


NEW YORK (GenomeWeb) –Life science software firm BioDiscovery this week unveiled NXClinical, a new addition to its product portfolio that's tailored specifically for the clinical laboratory market and provides tools for analyzing, processing, and reporting the results of genetic tests.

The release of NXClinical officially extends BioDiscovery's historically research-centric business into the clinical arena, although at least one of its existing products has been in use in the space for several years, according to BioDiscovery CEO Soheil Shams. He told BioInform that some clinical labs have begun using Nexus Copy Number, BioDiscovery's more established solution for CNV and sequence variation analysis and data visualization, not just to look at CNVs but also for other tasks like recording their activities in the lab or storing information from previous cases.

However, Nexus Copy Number was designed with the research market in mind, so about three years ago BioDiscovery began incorporating clinical features into the product to make it more suitable for the clinical context, Shams said. It also kept an eye on the clinical genetics market which has grown and expanded in the intervening years along with demand for analysis tools that meet regulatory requirements for handling data in the space. Both of these factors motivated BioDiscovery to launch a separate and focused product, rather than simply continue to extend its existing solution, Shams said.

This new system has a different architecture than Nexus Copy Number — it's a client-server system and not a desktop application. The enterprise system provides applications that help clinical laboratories handle raw data, quickly classify copy number variants, and report results. Its features include extensive audit-trail which lets users log and track each step in the lab per regulatory requirements, a secure database that handles data from hundreds of thousands of samples, the ability to pull in public reference data to help users interpret genomic events, and a collaborative environment with multiple client-defined user roles and responsibilities.

There's also a mechanism for automating routine lab processes — for example, pre-classifying genomic events that are associated with particular kinds of samples and analyses — which helps speed up case reviews and shorten the time to result, Shams said. The system isn't disease-specific but customers can tailor it to support the specific genetic tests that they offer; in fact, at least one current customer is doing so, according to Shams.

One of the key differentiators for NXClinical is "where we start with the data," he said. Some vendors sell software that only interpret lists of variants, meaning that customers need to have a separate solution to detect the variants in the first place. NXClinical, on the other hand, incorporates the CNV detection, identification, and visualization algorithms available in the Nexus Copy Number solution in addition to the newly developed clinical features, meaning that customers only need one tool to run their analysis from the raw data to interpretation, Shams said.

Moreover, since the solution can be installed on internal infrastructure as well as on the cloud, it caters to customers leery of having their data moved outside of their firewall, and this also sets it apart from some existing solutions which are only cloud-based, he added.

NXClinical is intended for use in both small labs and large multi-center genetics consortia within academia and industry. It's currently being used by scientists at the Mount Sinai Hospital in Toronto, Ontario, Canada, for example, to process and interpret microarray results. Elena Kolomietz, co-head of the hospital's diagnostic medical genetics division, said in a statement that her lab participated in an ongoing early access program that began this past summer, and selected the solution because it met an internal need to process data efficiently, reduce turnaround time, and enhance service delivery. The system is also being used by scientists at Erasmus University Medical Center in the Netherlands, Shams told BioInform. Pricing for NXClinical is based on the number of samples processed. The company has not disclosed the exact dollar amount and could actually change pricing after the EAP wraps, Shams said.

Existing vendors that could give BioDiscovery a run for its money include Cartagenia whose product portfolio includes Bench Lab CNV, software that's used to analyze structural variants in array CGH data in clinical labs. That solution is used by clients such as Credit Valley Hospital, CombiMatrix, Greenwood Genetic Center, Birmingham Women's Hospital NHS Foundation Trust, and University of Nebraska Medical Center.