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Clinical Implementation of Next-Generation Sequencing (NGS) Assays

  • Joshua L. DeignanEmail author
Chapter

Abstract

As next-generation sequencing (NGS) technologies become more cost-effective and feasible to implement, they are increasingly utilized within clinical molecular diagnostic laboratories for various indications. However, laboratory directors need to be prepared for the numerous challenges associated with the implementation of NGS technologies. These include the need to select an appropriate platform based on the purpose of the test, to recruit appropriately trained technical and bioinformatics personnel, to effectively store large amounts of data, to perform appropriate test validation for both the wet lab and bioinformatics components, to ensure appropriate informed consent if indicated, and to provide useful result reporting back to ordering clinicians. Guideline documents now exist, and many laboratories have already successfully applied the existing clinical laboratory regulations to this novel category of high-complexity testing. Nevertheless, NGS technologies hold great promise for the future despite some currently perceived barriers to implementation.

Keywords

Sequencing CLIA Genome Exome Panel Bioinformatics Variant Validation CAP Genetics 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pathology and Laboratory MedicineDavid Geffen School of Medicine at UCLALos AngelesUSA

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