Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics

被引：35

作者：

Kalman, Lisa V. ^{[1
]}

Lubin, Ira M. ^{[1
]}

Barker, Shannon ^{[1
,2
]}

du Sart, Desiree ^{[3
]}

Elles, Rob ^{[4
]}

Grody, Wayne W. ^{[5
,6
,7
]}

Pazzagli, Mario ^{[8
]}

Richards, Sue ^{[9
]}

Schrijver, Iris ^{[10
,11
]}

Zehnbauer, Barbara ^{[1
]}

机构：

[1] Ctr Dis Control & Prevent, Lab Res & Evaluat Branch, Div Lab Sci & Stand, Off Surveillance Epidemiol & Lab Serv, Atlanta, GA 30333 USA

[2] Georgia Inst Technol, Dept Biomed Engn, Atlanta, GA 30332 USA

[3] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia

[4] St Marys Hosp, Manchester Acad Hlth Sci Ctr, Manchester M13 0JH, Lancs, England

[5] Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA

[6] Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA

[7] Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA

[8] Univ Florence, Dept Clin Physiopathol, Florence, Italy

[9] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[10] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA

[11] Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA

来源：

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE | 2013年 / 137卷 / 07期

关键词：

ASSESSMENT SCHEME; CALIBRATION VERIFICATION; LABORATORY PERFORMANCE; GENOMIC DNA; X-SYNDROME; ASSURANCE; EXPERIENCE; PROGRAM; PCR; COLLEGE;

D O I：

10.5858/arpa.2012-0311-RA

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：983 / 998

页数：16

共 68 条

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