Quality Assurance and Quality Improvement in U.S. Clinical Molecular Genetic Laboratories

Bin Chen1, C. Sue Richards2, Jean Amos Wilson3, Elaine Lyon4

1 Centers for Disease Control and Prevention, Atlanta, Georgia, 2 Oregon Health & Science University, Portland, Oregon, 3 Berkeley HeartLab, Alameda, California, 4 University of Utah School of Medicine, Salt Lake City, Utah
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 9.2
DOI:  10.1002/0471142905.hg0902s69
Online Posting Date:  April, 2011
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Abstract

A robust quality‐assurance program is essential for laboratories that perform molecular genetic testing to maintain high‐quality testing and be able to address challenges associated with performance or delivery of testing services as the use of molecular genetic tests continues to expand in clinical and public health practice. This unit discusses quality‐assurance and quality‐improvement considerations that are critical for molecular genetic testing performed for heritable diseases and conditions. Specific discussion is provided on applying regulatory standards and best practices in establishing/verifying test performance, ensuring quality of the total testing process, monitoring and maintaining personnel competency, and continuing quality improvement. The unit provides a practical reference for laboratory professionals to use in recognizing and addressing essential quality‐assurance issues in human molecular genetic testing. It should also provide useful information for genetics researchers, trainees, and fellows in human genetics training programs, as well as others who are interested in quality assurance and quality improvement for molecular genetic testing. Curr. Protoc. Hum. Genet. 69:9.2.1‐9.2.26 © 2011 by John Wiley & Sons, Inc.

Keywords: molecular genetic testing; quality assurance; quality management; quality improvement; laboratory testing process; good laboratory practices; quality systems assessment; personnel competency

     
 
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Table of Contents

  • Introduction
  • Specific Considerations for Molecular Genetics Laboratories
  • Establishment and Verification of Performance Specifications for New Molecular Genetic Tests
  • Quality Assurance for the Total Testing Process
  • Personnel Qualifications, Responsibilities, and Competencies
  • Literature Cited
  • Tables
     
 
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Materials

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Literature Cited

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  21 CFR Part 809. In Vitro Diagnostic Products for Human Use. Revised as of April 1, 2008.
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  42 CFR Part 493. The Clinical Laboratory Improvement Amendments (CLIA) Regulations. As amended.
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