一份关于分子基因检测实验室的国际调查的报告。

Report of an international survey of molecular genetic testing laboratories.

作者信息

McGovern Margaret M, Elles Rob, Beretta Isabella, Somerville Martin J, Hoefler Gerald, Keinanen Mauri, Barton David, Carson Nancy, Dequeker Elisabeth, Brdicka Radim, Blazkova Alena, Aymé Ségolène, Schnieders Birgit, Muller Clemens R, Dalen Vibeke, Martinez Armando Albert, Kristoffersson Ulf, Ozguc Meral, Mueller Hansjakob, Boone Joe, Lubin Ira M, Sequeiros Jorge, Taruscio Domenica, Williamson Bob, Mainland Lynn, Yoshikura Hiroshi, Ronchi Elettra

机构信息

Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA.

出版信息

Community Genet. 2007;10(3):123-31. doi: 10.1159/000101753.

DOI:10.1159/000101753

PMID:17575456

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 < 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.

摘要

目的

收集分子基因检测（MGT）实验室的实践数据，以制定国家和国际质量保证（QA）政策。

方法

对三大洲18个国家的MGT实验室主任进行基于网络的调查（n = 827；回复率63%）。为每个回复的实验室制定并计算QA和报告指标。

结果

不同国家之间以及国家内部的实验室环境各不相同，主任的资质也存在差异。每个国家的受访者均表示其实验室接收来自本国境外的样本（64%，n = 529）。QA指数的两两比较显示，与主任接受分子遗传学正规培训（p < 0.005）、隶属于遗传学单位（p = 0.003）、实验室获得认可（p < 0.005）以及参与能力验证（p < 0.005）之间存在显著关联。与所有其他环境相比，研究实验室的平均报告得分较低（p < 0.05），每年接收样本量<150份的实验室也是如此。