Opportunities and challenges associated with clinical diagnostic genome sequencing: A report of the association for molecular pathology

Iris Schrijver, Nazneen Aziz, Daniel H. Farkas, Manohar Furtado, Andrea Ferreira Gonzalez, Timothy C. Greiner, Wayne W. Grody, Tina Hambuch, Lisa Kalman, Jeffrey A. Kant, Roger D. Klein, Debra G.B. Leonard, Ira M. Lubin, Rong Mao, Narasimhan Nagan, Victoria M. Pratt, Mark E. Sobel, Karl V. Voelkerding, Jane S. Gibson

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)525-540
Number of pages16
JournalJournal of Molecular Diagnostics
Volume14
Issue number6
DOIs
StatePublished - Nov 2012

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Cite this

Schrijver, I., Aziz, N., Farkas, D. H., Furtado, M., Gonzalez, A. F., Greiner, T. C., Grody, W. W., Hambuch, T., Kalman, L., Kant, J. A., Klein, R. D., Leonard, D. G. B., Lubin, I. M., Mao, R., Nagan, N., Pratt, V. M., Sobel, M. E., Voelkerding, K. V., & Gibson, J. S. (2012). Opportunities and challenges associated with clinical diagnostic genome sequencing: A report of the association for molecular pathology. Journal of Molecular Diagnostics, 14(6), 525-540. https://doi.org/10.1016/j.jmoldx.2012.04.006