Abstract
DNA diagnostics of genetic diseases increasingly shifts towards utilization of commercial assays. Cystic fibrosis (CF)-related DNA diagnostics were used as a model for a pilot survey of the variability in the utilization of qualitative CE-marked in vitro diagnostic (IVD) assays and the scale of their modification by end users. A structured questionnaire, developed in the context of the EuroGentest project, was distributed within the frame of the 2005 annual CF external quality assessment (EQA) scheme. Its aim was to evaluate the variability in the use of different CE-marked IVD assays in routine CF DNA diagnostics. Survey results were analysed and sequentially discussed with respective users and/or manufacturers. In total, 125 responses from EQA scheme participants were received. Almost half of the respondents modified manufacturer-recommended protocols. They also reported sporadic and/or recurrent problems with assay performance and genotyping of particular alleles. Nonetheless, only half of the respondents performed in-house verification before the implementation of the assay in clinical diagnostics and/or after modification of the recommended protocol. Results of this survey substantiate the importance of guidelines for proper verification of CE-marked IVD assays in DNA diagnostics, using CF as a model.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Dequeker E, Cuppens H, Dodge H et al: Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet 2000; (Suppl 2): S2–S24.
Dequeker E, Cassiman JJ : Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000; 25: 259–260.
Girodon-Boulandet E, Cazeneuve C, Goossens M : Screening Practices for Mutations in the CFTR Gene ABCC7. Hum Mutat 2000; 15: 135–149.
Cassiman JJ : Research network: EuroGentest – a European Network of Excellence aimed at harmonizing genetic testing services. Eur J Hum Genet 2005; 13: 1103–1105.
Directive 98/79/EC of the European Parliament and of the Council. The European Parliament and the Council of the European Union 1998, http://www.ivd-ce.com/ivd.pdf (Accessed October 2007).
Dequeker E, Ramsden S, Grody WW, Stenyel TT, Barton DE : Quality control in molecular genetic testing. Nat Rev Genet 2001; 2: 717–723.
Prence E : A practical guide for the validation of genetic tests. Genet Test 1999; 3: 201–205.
Ramsden SC, Deans Z, Robinson DO et al: Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland. Genet Test 2006; 10: 147–156.
OECD Guidelines for Quality Assurance in Molecular Genetic Testing, OECD 2007, http://www.cfnetwork.be/doc/QAGuidelineseng.pdf (Accessed May 2007).
Acknowledgements
This work was supported by EuroGentest (FP6-512148), VZFNM 00064203/6112/ and EU CF Network. We are grateful to all laboratories that took part in the survey, including Drs A Corveleyn and F Le Calvez, who contributed to the development of the questionnaire. We appreciate the encouraging role of Professor J-J Cassiman. Input from Abbott Molecular, Innogenetics and Tepnel Diagnostics was helpful.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Camajova, J., Berwouts, S., Matthijs, G. et al. Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories. Eur J Hum Genet 17, 537–540 (2009). https://doi.org/10.1038/ejhg.2008.209
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2008.209
Keywords
This article is cited by
-
Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry
Orphanet Journal of Rare Diseases (2021)
-
Rechtsgrundlagen und Praxis bei der Prüfung von kritischen In-vitro-Diagnostika
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz (2014)
-
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy
European Journal of Human Genetics (2013)
-
A standardized framework for the validation and verification of clinical molecular genetic tests
European Journal of Human Genetics (2010)
-
When good CF tests go bad
European Journal of Human Genetics (2009)
