Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing A Report of the Association for Molecular Pathology

    Authors

    I. Schrijver; N. Aziz; D. H. Farkas; M. Furtado; A. F. Gonzalez; T. C. Greiner; W. W. Grody; T. Hambuch; L. Kalman; J. A. Kant; R. D. Klein; D. G. B. Leonard; I. M. Lubin; R. Mao; N. Nagan; V. M. Pratt; M. E. Sobel; K. V. Voelkerding;J. S. Gibson

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    Abbreviated Journal Title

    J. Mol. Diagn.

    Keywords

    QUALITY ASSESSMENT SCHEME; RECOMBINANT-DNA; CANCER GENOME; COMMON; DISEASE; BREAST-CANCER; MUTATIONS; RISK; MEDICINE; GENES; ELECTROPHORESIS; Pathology

    Abstract

    This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications. (J Mol Diagn 2012, 14:525-540; http://dx.doi.org/10.1016/j.jmoldx.2012.04.006)

    Journal Title

    Journal of Molecular Diagnostics

    Volume

    14

    Issue/Number

    6

    Publication Date

    1-1-2012

    Document Type

    Article

    Language

    English

    First Page

    525

    Last Page

    540

    WOS Identifier

    WOS:000310178600001

    ISSN

    1525-1578

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