Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing
Open Access
- 22 August 2012
- journal article
- research article
- Published by Elsevier BV in The Journal of Molecular Diagnostics
- Vol. 14 (6), 525-540
- https://doi.org/10.1016/j.jmoldx.2012.04.006
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.This publication has 74 references indexed in Scilit:
- Next-Generation Sequencing: From Basic Research to DiagnosticsClinical Chemistry, 2009
- Next-generation DNA sequencingNature Biotechnology, 2008
- Genome sequencing in microfabricated high-density picolitre reactorsNature, 2005
- Finishing the euchromatic sequence of the human genomeNature, 2004
- Initial sequencing and analysis of the human genomeNature, 2001
- New dye-labeled terminators for improved DNA sequencing patternsNucleic Acids Research, 1997
- DNA sequencing using capillary array electrophoresisAnalytical Chemistry, 1992
- Fluorescence detection in automated DNA sequence analysisNature, 1986
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977
- A new method for sequencing DNA.Proceedings of the National Academy of Sciences, 1977