Abstract
In the 2000s, a number of initiatives were taken internationally to improve quality in genetic testing services. To contribute to and update the limited literature available related to this topic, we surveyed 910 human molecular genetic testing laboratories, of which 291 (32%) from 29 European countries responded. The majority of laboratories were in the public sector (81%), affiliated with a university hospital (60%). Only a minority of laboratories was accredited (23%), and 26% was certified. A total of 22% of laboratories did not participate in external quality assessment (EQA) and 28% did not use reference materials (RMs). The main motivations given for accreditation were to improve laboratory profile (85%) and national recognition (84%). Nearly all respondents (95%) would prefer working in an accredited laboratory. In accredited laboratories, participation in EQA (P<0.0001), use of RMs (P=0.0014) and availability of continuous education (CE) on medical/scientific subjects (P=0.023), specific tasks (P=0.0018), and quality assurance (P<0.0001) were significantly higher than in non-accredited laboratories. Non-accredited laboratories expect higher restriction of development of new techniques (P=0.023) and improvement of work satisfaction (P=0.0002) than accredited laboratories. By using a quality implementation score (QIS), we showed that accredited laboratories (average score 92) comply better than certified laboratories (average score 69, P<0.001), and certified laboratories better than other laboratories (average score 44, P<0.001), with regard to the implementation of quality indicators. We conclude that quality practices vary widely in European genetic testing laboratories. This leads to a potentially dangerous situation in which the quality of genetic testing is not consistently assured.
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Acknowledgements
We are grateful to all laboratories that participated in this survey. We thank Orphanet for providing us with the list of molecular human genetic testing laboratories. We also thank Dr Annouschka Laenen, from the Leuven Biostatistics and Statistical Bioinformatics Center, for carrying out the statistical analysis. Furthermore, we acknowledge Jean-Jacques Cassiman, Anniek Corveleyn, Ann Devos, Bénédicte Gerard, Emmanuelle Girodon, Gert Matthijs, Valerie Race, Anne-Françoise Roux and Greta Vandercruysen who tested the survey and/or gave many useful comments on the draft versions. This study was funded by the EU project EuroGentest (FP6-512148).
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Berwouts, S., Fanning, K., Morris, M. et al. Quality assurance practices in Europe: a survey of molecular genetic testing laboratories. Eur J Hum Genet 20, 1118–1126 (2012). https://doi.org/10.1038/ejhg.2012.125
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DOI: https://doi.org/10.1038/ejhg.2012.125
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