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.

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics / Lisa Kalman; Ira Lubin; Shannon Barker; Desiree du Sart; Rob Elles; Wayne Grody; Mario Pazzagli; Sue Richards; Iris Schrijver; Barbara Zehnbauer. - In: ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE. - ISSN 0003-9985. - STAMPA. - 137:(2013), pp. 983-988. [10.5858/arpa.2012-0311-RA]

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

PAZZAGLI, MARIO;
2013

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.
2013
137
983
988
Lisa Kalman; Ira Lubin; Shannon Barker; Desiree du Sart; Rob Elles; Wayne Grody; Mario Pazzagli; Sue Richards; Iris Schrijver; Barbara Zehnbauer
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/822465
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