Management and Quality Assurance in the Biochemical Genetics Laboratory

Tina M. Cowan1, Erin T. Strovel2

1 Stanford University Medical Center, Palo Alto, California, 2 University of Maryland School of Medicine, Baltimore, Maryland
Publication Name:  Current Protocols in Human Genetics
Unit Number:  Unit 17.7
DOI:  10.1002/0471142905.hg1707s59
Online Posting Date:  October, 2008
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High‐quality biochemical genetics testing is critical for proper diagnosis and management of patients with inborn errors of metabolism. An accurate diagnosis is a prerequisite for proper treatment, ongoing management, and ultimately, for optimal clinical outcome. Quality testing in the biochemical genetics laboratory is managed via adherence to federal regulations that govern clinical laboratory testing. However, because these were not specifically written for biochemical genetics laboratories, a number of professional organizations have developed practice guidelines to address gaps in the federal code. This unit reviews these regulations and guidelines as they apply to quality management of the biochemical genetics laboratory, including test validation, personnel standards, proficiency testing, and overall quality management (including quality assurance, quality control, and quality improvement). It also provides examples of protocols and forms that can be adapted for the documentation of test validation, personnel training, quality control, and quality assurance. Curr. Protoc. Hum. Genet. 59:17.7.1‐17.7.12. © 2008 by John Wiley & Sons, Inc.

Keywords: biochemical genetics; humans; genetics; medical; quality assurance; health care; quality control; laboratory personnel/standards

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Table of Contents

  • Introduction
  • Testing in the Clinical Laboratory
  • Personnel Standards
  • Proficiency Testing
  • Quality Management
  • Literature Cited
  • Figures
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Literature Cited

   ACMG (American College of Medical Genetics) 2006. Standards and Guidelines for Clinical Genetics Laboratories, 2006 ed. ACMG, Bethesda, Md.
   Hommes, F.A., Brewster, M.A., Burton, B.K., Buist, N.R., Elsas, L.J., Goldsmith, B.M., Hammond, J., Kruckeberg, W.C., Leichtman, L.G., Lin, K.T., Markin, R.S., Matalon, R., Naylor, E.W., O'Brien, W.E., Roe, C.R., Roesel, A.R., Shapira, A.R., Taylor, H.A., Tedesco, T.A., Thompson, J.N., Tocci, P.M., Ward, J.C., and Wilson, W.G. 1990. Proficiency testing for biochemical genetics laboratories: The first 10 rounds of testing. Am. J. Hum. Genet. 46:1001‐1004.
   Hommes, F.A. 1994. Quality control for selective screening of inborn errors of metabolism. Eur. J. Pediatr. 153:S17‐22.
   Hudson, K.L., Murphy, J.A., Kaufman, D.J., Javitt, G.H., Katsanis, S.H., and Scott, J. 2006. Oversight of US genetic testing laboratories. Nat. Biotechnol. 24:1083‐1090.
   McGovern, M.M., Benach, M., Wallenstein, S., Boone, J., and Lubin, I.M. 2003. Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States. Arch. Pathol. Lab Med. 127:71‐76.
   NCCLS (National Committee for Clinical Laboratory Standards) 2000. How to Define and Determine Reference Intervals in the Clinical Laboratory; Approved Guideline C28‐A2, second edition. NCCLS, Wayne, Pa.
   NCCLS 2002a. Assessment of Laboratory Tests When Proficiency Testing is Not Available; Approved Guideline GP29. NCCLS, Wayne, Pa.
   NCCLS 2002b. Application of a Quality Management System Model for Laboratory Services; Approved Guideline GP26‐A3. NCCLS, Wayne, Pa.
   NCCLS 2004. Continuous Quality Improvement: Integrating Five Key Quality System Components; Approved Guideline GP22‐A2. NCCLS, Wayne, Pa.
   NCCLS 2006. Clinical Laboratory Technical Procedure Manuals; Approved Guideline GP2‐A5, fifth edition. NCCLS, Wayne, Pa.
   NHGRI (National Human Genome Research Institute) 1997. Promoting Safe and Effective Genetic Testing in the United States. NHGRI, Bethesda, Md.
   Rinaldo, P., Cowan, T.M., and Matern, D. 2008. Acylcarnitine profile analysis. Genet. Med. 10:151‐156.
   Sherwin, J.E., Lockitch, G., Rosenthal, P., Rhone, S., Magee, L., Ashwood, E.R., Goldsmith, B.M., C.R., Geaghan, S., and Bennett, M. 2006. National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Maternal‐Fetal Risk Assessment and Reference Values in Pregnancy. AACC (American Association of Clinical Chemistry) Press, Washington, D.C.
Internet Resources
  American College of Medical Genetics (ACMG).
  Clinical Laboratory Standards Institute (CLSI).
  College of American Pathologists (CAP).
  Clinical Laboratory Improvement Amendments (CLIA).
  Centers for Disease Control (CDC), Newborn Screening Quality Assurance Program (NSQAP).
  European Research Network for Evaluation and Improvement of Screening, Diagnosis and Treatment of Inherited Disorders of Metabolism (ERNDIM).
  National Tay‐Sachs and Allied Diseases Association, Inc. (NTSAD).
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