CollabRx, a data analytics company focused on informing clinical decision making in molecular medicine, has launched the Genetic Variant Annotation (GVA) service. The service is a new product and the company's first offering for the clinical laboratory market. CollabRx will provide GVA to the molecular diagnostic segment of the clinical laboratory market, which includes reference laboratories, hospital laboratories, research institutions and laboratories within academic medical centers.
The service provides for a fully automated and scalable medical informatics solution that pairs the results of genetic sequencing tests with clinically actionable and updated knowledge that can be used to inform patient treatment planning, including the clinical impact of specific genetic profiles and associated therapeutic strategies such as drugs and clinical trials. This content leverages the company's semantic integration platform, a proprietary technology that enables CollabRx scientists and physicians to update the company's knowledge base with the latest medical and scientific data available in the public domain. This knowledge is further contextualized in collaboration with CollabRx's network of over 75 clinical practitioners in the U.S. and Europe.
GVA initially will be available in oncology to support the clinical interpretation of tests to elucidate tumor mutation profiles generated on any testing platform, including next generation sequencing devices. The range of tumor genetic aberrations interpreted by the GVA service include single base pair substitutions, nucleotide insertions and deletions, frameshifts, gene fusions, large-scale chromosomal rearrangement and copy number variation. Planned functional extensions of the service under development include the interpretation of similar genetic tests for inherited/developmental delay conditions, prenatal screening and neurological and metabolic diseases.
CollabRx will provide GVA using a combination subscription-based and Software as a Service (SaaS) model.