lunes, 12 de noviembre de 2012

Opportunities and challenges associated with cli... [J Mol Diagn. 2012] - PubMed - NCBI

J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20.

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

Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS.

Source

Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland; Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California. Electronic address: ischrijver@stanfordmed.org.

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.
Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.