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Review
. 2013 Jul;137(7):983-8.
doi: 10.5858/arpa.2012-0311-RA.

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Lisa V Kalman  1 , Ira M Lubin, Shannon Barker, Desiree du Sart, Rob Elles, Wayne W Grody, Mario Pazzagli, Sue Richards, Iris Schrijver, Barbara Zehnbauer
Affiliations
Review

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics

Lisa V Kalman et al. Arch Pathol Lab Med. 2013 Jul.

Abstract

Context: Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests.

Objectives: To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies.

Data sources: The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.

Conclusions: Proficiency testing/EQA schemes are available for common genetic disorders tested in many clinical laboratories but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of many tests for which formal PT is not currently available. Participation in PT/EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in their testing processes. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed.

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References

    1. GeneTests. Data Available to the Public. [Accessed May 14, 2012];National Center for Biotechnology website. http://www.ncbi.nlm.nih.gov/projects/GeneTests/static/about/data/summary.... Last updated: March 22, 2012.
    1. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. Quality control in molecular genetic testing. Nat Rev Genet. 2001;2(9):717–723. - PubMed
    1. International Organization for Standardization. Medical laboratories-particular requirements for quality and competence. Geneva, Switzerland: International Organization for Standardization; 2007. Report No.: ISO 15189.
    1. Clinical & Laboratory Standards Institute. Quality Management System: A Model for Laboratory Services; Approved Guideline—Fourth Edition. Wayne, PA: Clinical and Laboratory Standards Institute; 2011. Report No.: GP26-A4.
    1. ACMG standards & guidelines for clinical genetics laboratories. [Accessed May 15, 2012];American College of Medical Genetics website. 2008 http://www.acmg.net/AM/Template.cfm?Section=Laboratory_Standards_and_Gui....

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