Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics
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 te...
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| Veröffentlicht in: | Archives of pathology & laboratory medicine (1976) 2013-07, Vol.137 (7), p.983-988 |
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| container_title | Archives of pathology & laboratory medicine (1976) |
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| creator | Kalman, Lisa V Lubin, Ira M Barker, Shannon du Sart, Desiree Elles, Rob Grody, Wayne W Pazzagli, Mario Richards, Sue Schrijver, Iris Zehnbauer, Barbara |
| description | 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.
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.
The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
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. |
| doi_str_mv | 10.5858/arpa.2012-0311-RA |
| format | Article |
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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.
The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
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.</description><identifier>ISSN: 0003-9985</identifier><identifier>ISSN: 1543-2165</identifier><identifier>EISSN: 1543-2165</identifier><identifier>DOI: 10.5858/arpa.2012-0311-RA</identifier><identifier>PMID: 23808472</identifier><identifier>CODEN: APLMAS</identifier><language>eng</language><publisher>United States: College of American Pathologists</publisher><subject>Analysis ; Disease ; DNA sequencing ; Genetic Diseases, Inborn - diagnosis ; Genetic disorders ; Genetic screening ; Genetic testing ; Humans ; Laboratory Proficiency Testing - methods ; Molecular Diagnostic Techniques - standards ; Nucleotide sequencing ; Participation ; Pathology, Molecular - standards ; Quality Assurance, Health Care ; Quality control ; Quality management ; Testing laboratories</subject><ispartof>Archives of pathology & laboratory medicine (1976), 2013-07, Vol.137 (7), p.983-988</ispartof><rights>COPYRIGHT 2013 College of American Pathologists</rights><rights>Copyright College of American Pathologists Jul 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c629t-329acc9ec3196eb7813e3dd24350132e4e2d1bddf0b11dcd0e1c3eeea95b39e43</citedby><cites>FETCH-LOGICAL-c629t-329acc9ec3196eb7813e3dd24350132e4e2d1bddf0b11dcd0e1c3eeea95b39e43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23808472$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kalman, Lisa V</creatorcontrib><creatorcontrib>Lubin, Ira M</creatorcontrib><creatorcontrib>Barker, Shannon</creatorcontrib><creatorcontrib>du Sart, Desiree</creatorcontrib><creatorcontrib>Elles, Rob</creatorcontrib><creatorcontrib>Grody, Wayne W</creatorcontrib><creatorcontrib>Pazzagli, Mario</creatorcontrib><creatorcontrib>Richards, Sue</creatorcontrib><creatorcontrib>Schrijver, Iris</creatorcontrib><creatorcontrib>Zehnbauer, Barbara</creatorcontrib><title>Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics</title><title>Archives of pathology & laboratory medicine (1976)</title><addtitle>Arch Pathol Lab Med</addtitle><description>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.
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.
The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
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.</description><subject>Analysis</subject><subject>Disease</subject><subject>DNA sequencing</subject><subject>Genetic Diseases, Inborn - diagnosis</subject><subject>Genetic disorders</subject><subject>Genetic screening</subject><subject>Genetic testing</subject><subject>Humans</subject><subject>Laboratory Proficiency Testing - methods</subject><subject>Molecular Diagnostic Techniques - standards</subject><subject>Nucleotide sequencing</subject><subject>Participation</subject><subject>Pathology, Molecular - standards</subject><subject>Quality Assurance, Health Care</subject><subject>Quality control</subject><subject>Quality management</subject><subject>Testing laboratories</subject><issn>0003-9985</issn><issn>1543-2165</issn><issn>1543-2165</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkl1rFDEUhgdR7Fr9Ad5IQBBvZs1J5vNGWJZWhYJQ9DpkkzO7KZlkNpmp7r8309balSUX-XrOm5OXN8veAl2WTdl8kmGQS0aB5ZQD5NerZ9kCyoLnDKryebaglPK8bZvyLHsV403atozBy-yM8YY2Rc0W2X49hYBuJFY6HZUckKQFcfiLDDJIbbZ9JL4jQ_CdUQadOpAR42jc9g7E3yMGJy3ZT9Ka8UBkjBhjP0t2PpDeW1STlYFs0eFoVHydveikjfjmYT7Pfl5e_Fh_za--f_m2Xl3lqmLtmHPWSqVaVBzaCjd1Axy51qzgJQXOsECmYaN1RzcAWmmKoDgiyrbc8BYLfp59vtcdpk2PWqWOgrRiCKaX4SC8NOL4xpmd2PpbUVRNAXWVBD4-CAS_n9KfRW-iQpucQj9FAQWr64IB5Ql9_x9646fZljuq4cCrsv5HbaVFYVzn07tqFhUrzusKWl6wROUnqNm91KR32Jl0fMQvT_BpaOyNOlnw4UnBDqUdd9HbaTTexWMQ7kEVfIwBu0fzgIo5gGIOoJgDKOYAiutVqnn31PXHir-J438A1TXYcA</recordid><startdate>201307</startdate><enddate>201307</enddate><creator>Kalman, Lisa V</creator><creator>Lubin, Ira M</creator><creator>Barker, Shannon</creator><creator>du Sart, Desiree</creator><creator>Elles, Rob</creator><creator>Grody, Wayne W</creator><creator>Pazzagli, Mario</creator><creator>Richards, Sue</creator><creator>Schrijver, Iris</creator><creator>Zehnbauer, Barbara</creator><general>College of American Pathologists</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>4T-</scope><scope>4U-</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201307</creationdate><title>Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics</title><author>Kalman, Lisa V ; Lubin, Ira M ; Barker, Shannon ; du Sart, Desiree ; Elles, Rob ; Grody, Wayne W ; Pazzagli, Mario ; Richards, Sue ; Schrijver, Iris ; Zehnbauer, Barbara</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c629t-329acc9ec3196eb7813e3dd24350132e4e2d1bddf0b11dcd0e1c3eeea95b39e43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Analysis</topic><topic>Disease</topic><topic>DNA sequencing</topic><topic>Genetic Diseases, Inborn - diagnosis</topic><topic>Genetic disorders</topic><topic>Genetic screening</topic><topic>Genetic testing</topic><topic>Humans</topic><topic>Laboratory Proficiency Testing - methods</topic><topic>Molecular Diagnostic Techniques - standards</topic><topic>Nucleotide sequencing</topic><topic>Participation</topic><topic>Pathology, Molecular - standards</topic><topic>Quality Assurance, Health Care</topic><topic>Quality control</topic><topic>Quality management</topic><topic>Testing laboratories</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kalman, Lisa V</creatorcontrib><creatorcontrib>Lubin, Ira M</creatorcontrib><creatorcontrib>Barker, Shannon</creatorcontrib><creatorcontrib>du Sart, Desiree</creatorcontrib><creatorcontrib>Elles, Rob</creatorcontrib><creatorcontrib>Grody, Wayne W</creatorcontrib><creatorcontrib>Pazzagli, Mario</creatorcontrib><creatorcontrib>Richards, Sue</creatorcontrib><creatorcontrib>Schrijver, Iris</creatorcontrib><creatorcontrib>Zehnbauer, Barbara</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Docstoc</collection><collection>University Readers</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Archives of pathology & laboratory medicine (1976)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kalman, Lisa V</au><au>Lubin, Ira M</au><au>Barker, Shannon</au><au>du Sart, Desiree</au><au>Elles, Rob</au><au>Grody, Wayne W</au><au>Pazzagli, Mario</au><au>Richards, Sue</au><au>Schrijver, Iris</au><au>Zehnbauer, Barbara</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics</atitle><jtitle>Archives of pathology & laboratory medicine (1976)</jtitle><addtitle>Arch Pathol Lab Med</addtitle><date>2013-07</date><risdate>2013</risdate><volume>137</volume><issue>7</issue><spage>983</spage><epage>988</epage><pages>983-988</pages><issn>0003-9985</issn><issn>1543-2165</issn><eissn>1543-2165</eissn><coden>APLMAS</coden><abstract>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.
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.
The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
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.</abstract><cop>United States</cop><pub>College of American Pathologists</pub><pmid>23808472</pmid><doi>10.5858/arpa.2012-0311-RA</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0003-9985 |
| ispartof | Archives of pathology & laboratory medicine (1976), 2013-07, Vol.137 (7), p.983-988 |
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| language | eng |
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| source | MEDLINE; Allen Press Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Analysis Disease DNA sequencing Genetic Diseases, Inborn - diagnosis Genetic disorders Genetic screening Genetic testing Humans Laboratory Proficiency Testing - methods Molecular Diagnostic Techniques - standards Nucleotide sequencing Participation Pathology, Molecular - standards Quality Assurance, Health Care Quality control Quality management Testing laboratories |
| title | Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics |
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