Whole Genome Sequencing: A Considered Approach to Clinical Implementation

David Dimmock1

1 Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.22
DOI:  10.1002/0471142905.hg0922s77
Online Posting Date:  April, 2013
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Abstract

The recent entry of “whole” exome/“whole” genome sequencing into limited clinical practice has led to a progression of the availability of genome‐scale testing beyond deletion/duplication copy number arrays. This unit provides a considered approach to the implementation of such testing in routine clinical practice. Specifically, we will highlight the challenges in patient selection and consent, and the technical issues surrounding test interpretation and reporting. The unit will then provide practical solutions that allow for genome‐wide sequencing to be implemented in current clinical practice. Curr. Protoc. Hum. Genet. 77:9.22.1‐9.22.7. © 2013 by John Wiley & Sons, Inc.

Keywords: DNA testing; clinical implementation; ethics; presymptomatic prediction; data return; pharmacogenomics; consent; genetic counseling

     
 
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Table of Contents

  • Introduction
  • Patient Selection
  • Consent
  • Laboratory Considerations
  • Variant Confirmation
  • Data Return
  • Changing Annotation of the Genome
  • Conclusion
  • Literature Cited
     
 
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Materials

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Literature Cited

Literature Cited
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