Genetic Tests: Clinical Validity and Clinical Utility

Wylie Burke1

1 University of Washington, Seattle, Washington
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.15
DOI:  10.1002/0471142905.hg0915s81
Online Posting Date:  April, 2014
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When evaluating the appropriate use of new genetic tests, clinicians and health care policymakers must consider the accuracy with which a test identifies a patient's clinical status (clinical validity) and the risks and benefits resulting from test use (clinical utility). Genetic tests in current use vary in accuracy and potential to improve health outcomes, and these test properties may be influenced by testing technology and the clinical setting in which the test is used. This unit defines clinical validity and clinical utility, provides examples, and considers the implications of these test properties for clinical practice. Curr. Protoc. Hum. Genet. 81:9.15.1‐9.15.8. © 2014 by John Wiley & Sons, Inc.

Keywords: clinical validity; clinical utility; predictive value; penetrance

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Table of Contents

  • Introduction
  • Clinical Validity
  • Clinical Utility
  • Literature Cited
  • Figures
  • Tables
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Literature Cited

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Internet Resources
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