Next-Generation Data Management in Clinical Genomics

The sequencing of the human genome and the relationships between genetic variants and disease states have led to an explosion of genomic-based drug research and associated clinical diagnostic tests. These tests have the potential to direct a host of therapeutic interventions, predict risk or early onset of disease, or detect disease directly. The field of clinical genomics is at the embryonic stages of development and early results look promising for a burgeoning genomics-based intervention program. As an increasing number of gene/disease state associations are found, a huge number of specific tests are being developed and put into practice to enable personalized medicine. In fact, a survey published in a leading journal stated that 60% of primary-care physicians have ordered a genetic test for diagnostic purposes. In another publication, the overall market for genetic testing services and software is expected to grow from $1.4B in 2011 to $4.3B in 2016, while sequencing instrument sales will grow from $1.7B to $2.2B in the same time frame.

In order to drive efficiency and compliance within clinical genomics laboratories, specialized data management systems are needed. Core Informatics has developed a collection of Core LIMS applications specifically designed for this purpose. Our Ion Torrent and Illumina workflow applications are easily accessible from Platform for Science and ready to run on any installation of Core LIMS whether in the cloud or deployed on-premises. These applications include all of the configurations necessary to run the same workflows which are currently empowering our clinical laboratory customers to track and trace all aspects of the genomics testing including patient accessioning, procedure identification, preparation and purity assessment, through library construction, instrument integration and protocol workflow automation with approval & reporting of final results. Key to these configurations is the attention given to user total cost of ownership (TCO) issues.

At Core, we have developed a highly configurable data management platform that empowers customers (users) with the ability to easily modify or extend the base functionality provided by these applications to better suit their unique laboratory workflows. Integral to this Platform are a Dynamic Workflow Engine (DWE) and Scientific Data Management System (SDMS) to quickly adjust workflow sequences and to streamline automated data capture and instrument integration. Our Core SDMS provides a process to integrate with latest Next-Gen Sequencing instruments into your Clinical/Diagnostic Genomics information management operation to create Illumina Experiment Manager (IEM) compatible sample sheets or to dynamically trigger Planned Run creation on your Ion Torrent Server. Finally, our comprehensive Software Development Kit (Core SDK) allows seamless integration of your lab/data/results with third party data pipelining applications and any ERP/financial system for your customer business requirements. These Core Informatics Clinical Genomics applications provide scientists with the capabilities necessary to provide local adjustments to a Core LIMS installation as your requirements evolve in response to the rapidly changing Next-Generation market (instruments and sample preparation).

In addition to the strong capabilities provided by our data management platform, these Core LIMS NGS workflow applications are also available as a cloud-based deployment saving start-up and routine maintenance costs on an on-going basis. Of course, if for those organizations that prefer on-premises implementation, will be happy to learn that our product can be installed on virtually any server operating system. In either scenario, 100% of our functionality is accessible from any device or web browser.