Unit

UNIT 9.22 Whole Genome Sequencing: A Considered Approach to Clinical Implementation

  1. David Dimmock

Published Online: 1 APR 2013

DOI: 10.1002/0471142905.hg0922s77

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Dimmock, D. 2013. Whole Genome Sequencing: A Considered Approach to Clinical Implementation. Current Protocols in Human Genetics. 77:9.22:9.22.1–9.22.7.

Author Information

  1. Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin

Publication History

  1. Published Online: 1 APR 2013

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