Automated and Guided Workflows for Clinical Testing Using NGS Assays

The work performed in a genetic testing laboratory to process a sample requires many detailed oriented steps and a wealth of individual and institutional knowledgeThe output of this process often has a significant impact on patient outcomes and wellbeingAt the same timethe work is repetitive and requires the handling of large test volumes under the time pressures inherent in medical proceduresThis is particularly the case with nextgeneration sequencingNGSbased testswhich are increasingly used to diagnose rare diseasesanalyze mutation profiles of tumorsoffer reproductive genetic services and perform newborn genetic screeningExisting software solution in this space have taken steps to make the overall work for a clinician simplerStillthe efforts have not addressed the dependency on expert judgment and the following of detailed and often complex procedures to complete a genetic testThis environment lends itself to the application of workflow automation capabilitiesThe key benefits for the clinical users are the followingMinimizing the potential for errorWorkflow automation prevents essential and necessary tasks fromgoing unnoticedWith tasks and the personnel that perform them being compressively trackedworkflowautomation saves labs from far reaching and potentially very costly expenses associated with labpersonnel errorsReducing costs and increasing throughputIntegrating internal communication into the workflow platformreduces the overhead required to conduct clinical work and stay compliantThe result is more work canbe done with the same personnelCreating accountability and reducing subjectivityAs the complex rules and institutional knowledge of alaboratory gets codified into a workflowevery analytical step can be assigned and attributed to individuallab personnel while reducing the amount of choices made outside the system also reduces variance ofoutcomes attributed to operator subjectivityIn this projectwe will bring all elements of the clinical workflow for next generation sequencing togetherThis includes the detection of single nucleotide variations and copy number variationsthe annotation and clinical assessment of those variantsthe storing of the finalized report and all associated data in a genetic data warehouseThis project will also cover the automation of the informatics that enable a decision support system capable of implementing variant classification guidelines such as those by the American College of Medical Genetics and other leading industry bodies We plan to build a clinical workflow product to simplify the clinical interpretation of genetic dataensuring compliance with standards issued by Clinical Laboratory Improvement AmendmentsAmerican College of Medical Genetics and other regulatory bodieswhile reducing costs associated with current best practices