Quality Assurance and Quality Control in Clinical Cytogenetics

Fady M. Mikhail1, Michael S. Watson2

1 Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, 2 American College of Medical Genetics and Genomics, Bethesda, Maryland
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 8.2
DOI:  10.1002/0471142905.hg0802s82
Online Posting Date:  July, 2014
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Abstract

The goal of any clinical laboratory should be to provide patients with the most accurate test results possible. This is accomplished through various overlapping programs that continuously monitor and optimize all aspects of a test, including decisions by the laboratory to offer a test, the decision of providers to request the test, the testing itself, and the reporting of results to the referral source and patient. The levels at which test performance and accuracy can be optimized are encompassed under quality control (QC) and quality assurance (QA). The monitoring of QC and QA problems allows for the integration of these parameters into a total quality management program. This unit reviews QC and QA guidelines, in addition to discussing how to establish a quality assurance program. Curr. Protoc. Hum. Genet. 82:8.2.1‐8.2.10. © 2014 by John Wiley & Sons, Inc.

Keywords: healthcare quality assurance; cytogenetics; genetic testing

     
 
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Table of Contents

  • Introduction
  • Quality Control
  • Quality Assurance
  • Regulatory Programs in Clinical Cytogenetics
  • Quality Control/Assurance Guidelines
  • New Test Validation
  • Establishing a Quality Assurance Program
  • Literature Cited
  • Tables
     
 
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Materials

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Literature Cited

Literature Cited
  ACMG (American College of Medical Genetics and Genomics). 2008. Standards and Guidelines for Clinical Genetics Laboratories: Clinical Cytogenetics. ACMG, Bethesda, Md.
  AMA (American Medical Association). 2013. Current Procedural Terminology (CPT) 2014 Professional Edition. AMA Press, Chicago.
  Boone, J.D. 1992. Literature review of research related to the Clinical Laboratory Improvement Amendments of 1988. Arch. Pathol. Lab. Med. 116:681‐693.
  Cooley, L.D., Lebo, M., Li, M.M., Slovak, M.L., Wolff, D.J., and Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. 2013. American College of Medical Genetics and Genomics technical standards and guidelines: Microarray analysis for chromosome abnormalities in neoplastic disorders. Genet. Med. 15:484‐494.
  ISCN. 2013. An International System for Human Cytogenetic Nomenclature (L.G. Shaffer, J. McGowan‐Jordan, and M. Schmid, eds.) S. Karger, Basel, Switzerland.
  Knutsen, T. 1997. Laboratory safety, quality control, and regulations. In The AGT Cytogenetics Laboratory Manual, 3rd Edition (M.J. Barch, T. Knutsen, and J.L. Spurbeck, eds.) pp. 597‐646. Lippincott‐Raven, Philadelphia.
  Knutsen, T., Bixenman, H.A., Lawce, H., and Martin, P.K. 1991. Chromosome analysis guidelines preliminary report. Cancer Genet. Cytogenet. 52:11‐17.
  Mascarello, J.T., Hirsch, B., Kearney, H.M., Ketterling, R.P., Olson, S.B., Quigley, D.I., Rao, K.W., Tepperberg, J.H., Tsuchiya, K.D., Wiktor, A.E., and Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. 2011. Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization. Genet. Med. 13:667‐675.
  South, S.T., Lee, C., Lamb, A.N., Higgins, A.W., Kearney, H.M. and Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. 2013. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013. Genet. Med. 15:901‐909.
  Task Force on Genetic Testing. 1997. Promoting Safe and Effective Genetic Testing in the United States, Final Report of the Task Force on Genetic Testing (N.A. Holtzman, and M.S. Watson, eds.). Johns Hopkins University Press, Baltimore.
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