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Implementation of Genome Sequencing Assays

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Genomic Applications in Pathology

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Abstract

As next-generation sequencing (NGS) technologies become more feasible and cost effective, they are increasingly implemented by clinical laboratories as an important platform for their test menu offering. Laboratory directors need to be prepared for the numerous challenges and obstacles 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 store large amounts of data, to perform appropriate test validation, to ensure appropriate informed consent, and to provide useful result reporting. Guideline documents have only recently started to emerge in the area of NGS, and those laboratories which are already using this technology currently apply existing clinical laboratory regulations to this novel category of high-complexity testing. Nevertheless, NGS technology holds 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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Editors and Affiliations

  1. Departments of Pathology, Oncology and Urology, Johns Hopkins University, Baltimore, Maryland, USA

    George Jabboure Netto

  2. Department of Pathology, Stanford University School of Medicine, Stanford, California, USA

    Iris Schrijver

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Deignan, J.L. (2015). Implementation of Genome Sequencing Assays. In: Netto, G., Schrijver, I. (eds) Genomic Applications in Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-0727-4_8

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  • DOI: https://doi.org/10.1007/978-1-4939-0727-4_8

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-0726-7

  • Online ISBN: 978-1-4939-0727-4

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