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

Lisa V. Kalman, Ira M. Lubin, Shannon Barker, Desiree Du Sart, Rob Elles, Wayne W. Grody, Mario Pazzagli, Carolyn (Sue) Richards, Iris Schrijver, Barbara Zehnbauer

Research output: Contribution to journalArticle

32 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)983-988
Number of pages6
JournalArchives of Pathology and Laboratory Medicine
Volume137
Issue number7
DOIs
StatePublished - Jul 2013

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Molecular Biology
Inborn Genetic Diseases
Technology
Australasia
Information Storage and Retrieval
Genetic Testing
Human Genome
DNA Sequence Analysis
Research

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics. / Kalman, Lisa V.; Lubin, Ira M.; Barker, Shannon; Du Sart, Desiree; Elles, Rob; Grody, Wayne W.; Pazzagli, Mario; Richards, Carolyn (Sue); Schrijver, Iris; Zehnbauer, Barbara.

In: Archives of Pathology and Laboratory Medicine, Vol. 137, No. 7, 07.2013, p. 983-988.

Research output: Contribution to journalArticle

Kalman, LV, Lubin, IM, Barker, S, Du Sart, D, Elles, R, Grody, WW, Pazzagli, M, Richards, CS, Schrijver, I & Zehnbauer, B 2013, 'Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics', Archives of Pathology and Laboratory Medicine, vol. 137, no. 7, pp. 983-988. https://doi.org/10.5858/arpa.2012-0311-RA
Kalman, Lisa V. ; Lubin, Ira M. ; Barker, Shannon ; Du Sart, Desiree ; Elles, Rob ; Grody, Wayne W. ; Pazzagli, Mario ; Richards, Carolyn (Sue) ; Schrijver, Iris ; Zehnbauer, Barbara. / Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics. In: Archives of Pathology and Laboratory Medicine. 2013 ; Vol. 137, No. 7. pp. 983-988.
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