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Report of an international survey of molecular genetic testing laboratories

McGovern, Margaret M. ; Elles, Rob ; Beretta, Isabella ; Somerville, Martin J. ; Hoefler, Gerald ; Keinanen, Mauri ; Barton, David ; Carson, Nancy ; Dequeker, Elisabeth and Brdicka, Radim , et al. (2007) In Community Genetics 10(3). p.123-131
Abstract
Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA). Methods: A web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on 3 continents. QA and reporting indices were developed and calculated for each responding laboratory. Results: Laboratory setting varied among and within countries, as did qualifications of the directors. Respondents in every country indicated that their laboratory receives specimens from outside their national borders (64%, n = 529). Pair-wise comparisons of the QA index revealed a significant association with the director having formal training in molecular... (More)
Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA). Methods: A web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on 3 continents. QA and reporting indices were developed and calculated for each responding laboratory. Results: Laboratory setting varied among and within countries, as did qualifications of the directors. Respondents in every country indicated that their laboratory receives specimens from outside their national borders (64%, n = 529). Pair-wise comparisons of the QA index revealed a significant association with the director having formal training in molecular genetics (p < 0.005), affiliation with a genetics unit (p = 0.003), accreditation of the laboratory (p < 0.005) and participation in proficiency testing (p < 0.005). Research labs had a lower mean report score compared to all other settings (p < 0.05) as did laboratories accessioning <150 samples per year. Conclusion: MGT is provided under widely varying conditions and regulatory frameworks. The data provided here may be a useful guide for policy action at both governmental and professional levels. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
reporting, genetic tests, molecular genetic testing, quality assurance, genetics test regulation, proficiency testing
in
Community Genetics
volume
10
issue
3
pages
123 - 131
publisher
Karger
external identifiers
  • wos:000247425200001
  • scopus:34250661925
ISSN
1422-2795
DOI
10.1159/000101753
language
English
LU publication?
yes
id
e0bfc5e8-bced-42ba-a1e9-343bfe9d4e9a (old id 648108)
date added to LUP
2016-04-01 11:42:11
date last changed
2022-01-26 08:56:08
@article{e0bfc5e8-bced-42ba-a1e9-343bfe9d4e9a,
  abstract     = {{Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA). Methods: A web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on 3 continents. QA and reporting indices were developed and calculated for each responding laboratory. Results: Laboratory setting varied among and within countries, as did qualifications of the directors. Respondents in every country indicated that their laboratory receives specimens from outside their national borders (64%, n = 529). Pair-wise comparisons of the QA index revealed a significant association with the director having formal training in molecular genetics (p &lt; 0.005), affiliation with a genetics unit (p = 0.003), accreditation of the laboratory (p &lt; 0.005) and participation in proficiency testing (p &lt; 0.005). Research labs had a lower mean report score compared to all other settings (p &lt; 0.05) as did laboratories accessioning &lt;150 samples per year. Conclusion: MGT is provided under widely varying conditions and regulatory frameworks. The data provided here may be a useful guide for policy action at both governmental and professional levels.}},
  author       = {{McGovern, Margaret M. and Elles, Rob and Beretta, Isabella and Somerville, Martin J. and Hoefler, Gerald and Keinanen, Mauri and Barton, David and Carson, Nancy and Dequeker, Elisabeth and Brdicka, Radim and Blazkova, Alena and Ayme, Segolene and Schnieders, Birgit and Mueller, Clemens R. and Dalen, Vibeke and Martinez, Armando Albert and Kristoffersson, Ulf and Ozguc, Meral and Mueller, Hansjakob and Boone, Joe and Lubin, Ira M. and Sequeiros, Jorge and Taruscios, Domenica and Williamson, Bob and Mainland, Lynn and Yoshikura, Hiroshi and Ronchi, Elettra}},
  issn         = {{1422-2795}},
  keywords     = {{reporting; genetic tests; molecular genetic testing; quality assurance; genetics test regulation; proficiency testing}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{123--131}},
  publisher    = {{Karger}},
  series       = {{Community Genetics}},
  title        = {{Report of an international survey of molecular genetic testing laboratories}},
  url          = {{http://dx.doi.org/10.1159/000101753}},
  doi          = {{10.1159/000101753}},
  volume       = {{10}},
  year         = {{2007}},
}