September 17, 2015
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Deploying Successful Clinical NGS Testing: From Test Development to Interpretation to Report


Director of Molecular Diagnostics, Children's National Medical Center 

Director of Clinical and Client Services, Parabase Genomics

Vice President, Products, Omicia 

This online seminar will provide examples of how commercial and hospital-affiliated clinical labs are successfully developing and deploying high-throughput next-generation sequencing-based testing services for genetic diseases. 

Our first speaker, Sean Hofherr, director of the Molecular Diagnostic Lab at Children’s National Medical Center, will discuss how his lab moved from outsourced NGS testing to an in-house offering. 

After years of sending requests for NGS testing out to independent specialty laboratories, Children’s National decided to bring genomic testing in-house. Dr. Hofherr will discuss how the lab developed a comprehensive NGS testing service with predefined panels, as well as customized patient-specific panels. He will detail how bringing NGS testing in-house enabled Children’s National to reduce lab costs in addition to providing accurate, comprehensive, and cost-effective diagnostic testing for patients. 

Our second speaker, Julie Rousseau, director of clinical and client services at independent testing lab Parabase Genomics, will detail how Parabase deploys its NewbornDx diagnostic test to sequence more than 500 genes in order to identify causative variants associated with newborn-related disorders and facilitate a turnaround time from sample collection to clinical report in 7-10 days. 

In addition, Charlene Son Rigby, Omicia’s vice president of products, will illustrate how labs can use Opal Clinical to streamline and optimize their NGS testing programs. Omicia developed Opal Clinical to meet the increasing need for intuitive tools to rapidly deploy and analyze NGS tests. The system provides labs with standardized interpretation and reporting workflows for gene panels, exomes, and whole genomes. 

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