Belgian clinical bioinformatics firm Cartagenia said this week that it has closed a €2.2 million ($2.9 million) round of financing that it will use to "strengthen" its market presence and advance its product development plans.
Half of the funds come from Cartagenia's existing shareholders — investment company PMV-VINNOF and seed capital group Gemma Frisius Fund — and its founders, while the rest came from a new addition to the roster, Quest for Growth, a private equity fund.
Cartagenia, which has built its business on cloud-based clinical diagnostics software and services, will use the new funding to set up a US office, most likely on the East Coast, and will add between 10 and 15 new employees to its current headcount of 10.
The company, which spun out of Belgium's Catholic University of Leuven in 2008, is also spreading its wings in terms of new products. It plans to launch in 2012 new versions of its existing pipeline that will support clinical genetic diagnostics based on next-generation sequencing data. It is also developing tools to support prenatal screening and cancer diagnostics in response to "growing demand" in these areas.
These tools will expand its flagship offering, the Bench platform for interpreting genomic variation in a clinical context. Bench comes in three different iterations targeted at different customers: Bench Lab for researchers, Bench Clinic for clinical diagnostics, and Bench Consortium for groups of labs that need to share data.
Cartagenia designed its infrastructure specifically for clinical settings rather than repurposing research-centric tools for the space, CEO Herman Verrelst told BioInform. The company considers this factor to be a key benefit of its offerings that will help it compete against software companies that offer purely research solutions.
In addition to Bench, the Leuven, Belgium-based firm offers curated databases with information about specific disease areas such as heart defects, mental retardation, autism, oncology, and prenatal diagnosis. It also sells modules for integrating third-party databases and laboratory information management systems with the Bench platform.
Bench Lab currently includes a module for copy number variation analysis, which lets users perform high-throughput variant annotation and filtering and generate lab and clinical reports. The company is currently developing a version of Bench Lab for next-generation sequencing analysis.
Cartagenia's software is available via the Amazon Web Services platform and customers pay for annual licenses based on the volume of data they are working with in addition to the cost of storage space and computation time.
A Competitive Market
A number of bioinformatics firms are eyeing the clinical diagnostic arena as an opportunity for growth as next-gen sequencing increasingly moves into that market. For example, companies like Omicia and Knome have developed clinical annotation pipelines for whole-genome analysis, while GenomeQuest recently launched its GQ-DxSM "clinical decision-support system" for whole-genome diagnostics.
In addition to other software providers, Cartagenia will also have to compete with labs' internally developed systems, which tend to be a mix of open source tools and software that comes prepackaged with diagnostic devices.
However, Verrelst said that Cartagenia's applications are designed to produce fast turnaround times and are optimized for efficiency — two important requirements for routine diagnostic settings. He added that in-house systems and open source tools are generally not tailored for clinical use.
Additionally, Cartagenia's offerings are platform independent and complement technology specific software solutions by focusing on providing "downstream analysis and interpretation," he said.
For example, "software that comes with [some] technology platforms is almost solely focused on the genotype," he explained. "We want to integrate the phenotype into the analysis process as well as leverage external sources."
The approach, he said, is "much less [focused] on pure data management and more [interpretation-oriented in] its goals."
On the NGS front, the firm is looking to fine-tune its Bench software suite to include workflows and analysis strategies that are specific to the space. The company also plans to incorporate information from various databases such as PubMed and RefSeq that will help investigators sort through sequence information from exome and whole-genome sequencing projects and select relevant variants.
In its initial release, which is planned for the first half of 2012, the NGS pipeline will serve as a general purpose data management and variant filtering application, but over time it will include "expert background information" that will make it more "specialized" for different clinical domains, Verrelst said.
To that end, the company is partnering with some of its customers with expertise in these domains so that the pipeline can be tested on "actual patient data."
The company has similar plans to tweak its pipeline for use in prenatal screening and cancer diagnostics, Verrelst said, but those tools are still in the "research phase" and as such Cartagenia doesn’t have a firm release date for them.
Verrelst acknowledged that it is still early days for the clinical genomics market, noting that the biggest challenges aren't just related to data analysis, but include "validating the underlying platform and the clinical tests."
Nevertheless, he said, "we are preparing our systems to be ready when the market adopts these new techniques."
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