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Related Experiment Video

Updated: Jul 11, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Quality assurance in molecular genetic testing laboratories.

M M McGovern1, M O Benach, S Wallenstein

  • 1Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. mmcgovern@smtplink.mssm.edu

JAMA
|March 10, 1999
PubMed
Summary

Regulation of molecular genetic testing laboratories is needed. A 1997 survey revealed variable quality assurance (QA) and patient rights practices, indicating a need for improved standards in clinical molecular genetic testing.

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Area of Science:

  • Medical Genetics
  • Laboratory Medicine
  • Health Services Research

Background:

  • Specific regulation for molecular genetic testing laboratories may be necessary to ensure quality assurance (QA) and protect patient rights.
  • A comprehensive analysis of current laboratory practices was lacking to assess regulatory needs and impact on testing access.

Purpose of the Study:

  • To gather and analyze data on the availability of clinical molecular genetic testing.
  • To assess personnel standards and laboratory practices in molecular genetic testing.

Main Methods:

  • A mail survey was conducted in June 1997 targeting directors of molecular genetic testing laboratories in the United States.
  • A quality assurance (QA) score was assigned based on survey responses regarding genetic testing processes.
Keywords:
American College of Medical Genetics Laboratory Practice Committee Standards and GuidelinesEmpirical ApproachGenetics and Reproduction

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  • Participants included 245 directors from hospital-based, independent, and research-based laboratories (74.9% response rate).

    • Main Results:

    • 245 laboratories offered testing for 94 disorders, with varied personnel qualifications but all directors holding doctoral degrees.
    • The mean QA score was 90%, with 15% of laboratories scoring below 70%.
    • Higher QA scores correlated with larger test menus, higher annual analysis volume, director's PhD, board certification, independent/hospital-based labs, proficiency testing, and CLIA certification.

    Conclusions:

    • A significant number of laboratories exhibited QA scores suggesting suboptimal practices.
    • Improvements in both personnel qualifications and laboratory practice standards are crucial for ensuring quality in clinical molecular genetic testing.