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Clinical Implementation of Next-Generation Sequencing (NGS) Assays

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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.

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Authors and Affiliations

  1. Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

    Joshua L. Deignan

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  1. Joshua L. Deignan
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Correspondence to Joshua L. Deignan .

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Editors and Affiliations

  1. Professor and Chair of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA

    George Jabboure Netto

  2. Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Clinical Professor of Pathology, University of Chicago Pritzker School of Medicine, Evanston, IL, USA

    Karen L. Kaul

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Deignan, J.L. (2019). Clinical Implementation of Next-Generation Sequencing (NGS) Assays. In: Netto, G., Kaul, K. (eds) Genomic Applications in Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-96830-8_9

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  • DOI: https://doi.org/10.1007/978-3-319-96830-8_9

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-96829-2

  • Online ISBN: 978-3-319-96830-8

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