Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics
作者： Lisa V. Kalman , Ira M. Lubin , Shannon Barker , Desiree du Sart , Rob Elles
DOI: 10.5858/ARPA.2012-0311-RA
关键词: Test performance 、 Medicine 、 Clinical tests 、 Laboratory Proficiency Testing 、 External quality assessment 、 Proficiency testing 、 Scope (project management) 、 Engineering management 、 Molecular genetic testing 、 Quality (business)
摘要: Context.—Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the and comparison of test performance among different clinical laboratories technologies. In addition to approximately 2300 tests for individual genetic disorders, recent advances technology have enabled development that quickly economically analyze entire human genome. New PT/EQA approaches are needed ensure continued these complex tests. Objectives.—To review availability scope molecular inherited conditions Europe, Australasia, United States; evaluate successes demonstrated value available programs; examine challenges provision comprehensive posed by new laboratory practices methodologies. Data Sources.—The literature on this topic was reviewed supplemented with personal experiences several providers. C...
allenpress.com
archivesofpathology.org
cdc.gov
elsevier.com参考文章(46)
Lum G, Tholen Dw, Floering Da, The usefulness of calibration verification and linearity surveys in predicting acceptable performance in graded proficiency tests. Archives of Pathology & Laboratory Medicine. ,vol. 119, pp. 401- 408 ,(1995)
Jeremy D. Shearman, Kathryn J.H. Robson, Anne Marie Jouanolle, Annick Mosser, Véronique David, Jean-Yves Le Gall, David J. Halsall, Terence S. Elsey, Alison Kelly, Timothy M. Cox, Michael Clare, Adrian Bomford, Jean Luc Vandwalle, Jacques Rochette, Nicolas Borot, Hélène Coppin, Marie-Paule Roth, Eleanor Ryan, John Crowe, Angela Totaro, Paolo Gasparini, Antonella Roetto, Clara Camaschella, Chris Darke, Daniel F. Wallace, Kasra Saeb-Parsy, James S. Dooley, Mark Worwood, Ann P. Walker, Alison T. Merryweather-Clarke, Jennifer J. Pointon, Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results Nature Genetics. ,vol. 23, pp. 271- 271 ,(1999) , 10.1038/15452
Elisabeth Dequeker, Simon Ramsden, Wayne W. Grody, Timothy T. Stenzel, David E. Barton, Quality control in molecular genetic testing Nature Reviews Genetics. ,vol. 2, pp. 717- 723 ,(2001) , 10.1038/35088588
Patricia E. Styer, Delmiro Anthony Vasquez, Martin H. Kroll, Calibration verification performance relates to proficiency testing performance. Archives of Pathology & Laboratory Medicine. ,vol. 128, pp. 544- 548 ,(2004) , 10.1043/1543-2165(2004)128<544:CVPRTP>2.0.CO;2
Peter Mockridge, Gerald A. Hoeltge, Patricia E. Styer, Mari Gina Phillips, Detection and Correction of Systematic Laboratory Problems by Analysis of Clustered Proficiency Testing Failures Archives of Pathology & Laboratory Medicine. ,vol. 129, pp. 186- 189 ,(2005) , 10.5858/2005-129-186-DACOSL
Matthew W. Anderson, Iris Schrijver, Next generation DNA sequencing and the future of genomic medicine. Genes. ,vol. 1, pp. 38- 69 ,(2010) , 10.3390/GENES1010038
Sara Seneca, Michael A Morris, Simon Patton, Rob Elles, Jorge Sequeiros, None, Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias. European Journal of Human Genetics. ,vol. 16, pp. 913- 920 ,(2008) , 10.1038/EJHG.2008.29
Michael Jarvis, Ramaswamy K. Iyer, Laurina O. Williams, Walter W. Noll, Kirk Thomas, Milhan Telatar, Wayne W. Grody, A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics The Journal of Molecular Diagnostics. ,vol. 7, pp. 247- 251 ,(2005) , 10.1016/S1525-1578(10)60551-X
Margaret M. McGovern, Rob Elles, Isabella Beretta, Martin J. Somerville, Gerald Hoefler, Mauri Keinanen, David Barton, Nancy Carson, Elisabeth Dequeker, Radim Brdicka, Alena Blazkova, Ségolène Aymé, Birgit Schnieders, Clemens R. Müller, Vibeke Dalen, Armando Albert Martinez, Ulf Kristoffersson, Meral Ozguc, Hansjakob Mueller, Joe Boone, Ira M. Lubin, Jorge Sequeiros, Domenica Taruscio, Bob Williamson, Lynn Mainland, Hiroshi Yoshikura, Elettra Ronchi, Report of an International Survey of Molecular Genetic Testing Laboratories Community Genetics. ,vol. 10, pp. 123- 131 ,(2007) , 10.1159/000101753
Jean-Claude Libeer, Role of external quality assurance schemes in assessing and improving quality in medical laboratories. Clinica Chimica Acta. ,vol. 309, pp. 173- 177 ,(2001) , 10.1016/S0009-8981(01)00518-6