Title

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

Authors

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

Comments

Authors: contact us about adding a copy of your work at STARS@ucf.edu

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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