By Uduak Grace Thomas
CollabRx this week launched its Genetic Variant Annotation, or GVA, service, which will provide variant interpretation services to the molecular diagnostics segment of the clinical laboratory market including hospital labs, research institutions, and academic medical centers.
According to the company, its service pairs the results of genetic sequencing tests from institutions such as the University of Chicago Medical Center, with clinically actionable information, such as the impact of specific genetic profiles and associated therapeutic strategies such as drugs and clinical trials, that can be used to inform patient treatment.
Specifically, the company accepts genetic variant files from sequencing devices or laboratory information management systems and then uses a suite of proprietary bioinformatics tools and data from publicly available repositories to identify and call mutations in the data, Gavin Gordon, the company’s vice president of business development and strategic alliances, explained toBioInform. Customers receive results in a matter of minutes either as XML files, PDFs, or in other electronic formats.
With an initial focus on cancer, ColabRx said its service will help customers in the space interpret tumor mutation profiles generated on multiple testing platforms including next-generation sequencing instruments. The company will be able to identify genetic changes associated with the disease including single base pair substitutions, nucleotide insertions and deletions, frameshifts, gene fusions, large-scale chromosomal rearrangement, and copy number variations.
Later, it plans to extend the service beyond cancer to include interpretation of genetic tests for inherited developmental delay conditions, prenatal screening, and neurological and metabolic diseases. The first of these will come on the market in 2014, Gordon said.
CollabRx customers can access the GVA service by either paying for a subscription or deploying it under a software-as-a-service model. “This gives us flexibility since different customers have different preferences and usage expectations,” Gordon explained.
Under the SaaS model, CollabRx will host the software and charge customers per-use fees, he said. These fees will typically range from $100 to $200. On the other hand, under the subscription model the company creates customized deployments that are based on clients’ needs and requirements so there isn’t a fixed price point, Gordon said. Instead, the company charges “tiered” fees that are “comparable to industry benchmarks for high-value medical and scientific content, he said.
Besides its service offering, CollabRx markets a series of web-based applications for oncology called Therapy Finders that help clinicians and their patients select the most appropriate treatments for tumors. The apps use data from an underlying proprietary knowledgebase that contains aggregated data from multiple public sources including published papers, conference abstracts, clinical trials, and diagnostic guidelines. The company also has a software development agreement with Life Technologies. It is one of three companies involved in building Life Tech’s Integration Portal, which will provide information to testing physicians about treatment options, clinical trials, and details about their patients’ molecular profiles from public literature (BI2/22/2013).
CollabRx also has an agreement with Projects In Knowledge, a developer of digital and mobile information tools and continuing medical education programs, to jointly distribute software applications to more than 35,000 oncologists and clinicians in its clinician network (BI3/8/2013).