Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Feature
  • Published:

Towards quality assurance and harmonization of genetic testing services in the European Union

Although quality assurance schemes have been proven effective in preventing genetic testing errors, a recent survey of services in the EU reveals that laboratory participation in these schemes is fragmented and incomplete.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Genetic testing laboratory affiliations.

Bob Crimi

Figure 2: Trends in genetic testing activity.

Bob Crimi

Figure 3: Participation in external quality assessment schemes (EQA) schemes of different diseases during the last five years.

Bob Crimi

Figure 4: QA systems implementation and inspections of genetic diagnostic laboratories.

Bob Crimi

References

  1. Losekoot, M., Bakker, B., Laccone, F., Stenhouse, S. & Elles, R. A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease. Eur. J. Hum. Genet. 7, 217–222 (1999).

    Article  CAS  Google Scholar 

  2. Dequeker, E. & Cassiman, J.J. Genetic testing and quality control in diagnostic laboratories. Nat. Genet. 25, 259–260 (2000).

    Article  CAS  Google Scholar 

  3. McGovern, M.M., Benach, M.O., Wallenstein, S., Desnick, R.J. & Keenlyside, R. Quality assurance in molecular genetic testing laboratories. J. Am. Med. Assoc. 281, 835–840 (1999).

    Article  CAS  Google Scholar 

  4. McGovern, M.M., Benach, M., Wallenstein, S., Boone, J. & Lubin, I.M. Personnel standards and quality assurance practices of biochemical genetic testing laboratories in the United States. Arch. Pathol. Lab. Med. 127, 71–76 (2003).

    PubMed  Google Scholar 

  5. Ibarreta, D., Bock, A.K., Klein, C. & Rodriguez-Cerezo, E. Towards quality assurance and harmonization of genetic testing services in the EU. ESTO Report EUR 20977, Joint Research Centre, European Commission (2003). http://www.jrc.es/home/publications/publication.cfm?pub=1124/

  6. Harris, R. & Reid, M. Medical Genetic Services in 31 countries: an overview. Eur. J. Hum. Genet. 5, 3–21 (1997).

    Article  Google Scholar 

  7. Donnai, D. & Elles, R. Integrated regional genetic services:current and future provision. Br. Med. J. 322, 1048–1051 (2001).

    Article  CAS  Google Scholar 

  8. Health Council of the Netherlands. DNA Diagnostics publication num. 1998/11E Bezoekadres Parnassusplein 5, 2511 VX. Den Haag, Netherlands. (1998).

  9. Rueda, J. & Briones, E. Genetic Testing Services for Hereditary Diseases in Spain: Results from a Survey (eds. Ibarreta, D., Bock, A.K. and Rodriguez-Cerezo, E.) (Joint Research Center, European Commission, Seville, Spain, 2002).

    Google Scholar 

  10. Patton, S., Barton, D. & Elles, R. Retaining the confidence of the public in molecular genetic testing—quality assurance. Community Genet. 3, 164–169 (2000).

    Google Scholar 

  11. Genetic Testing in Europe. Harmonisation of Standards and Regulations. (Forschungsberichte 01/99, Vienna, 1999).

  12. Dequeker, E., Ramsden, S., Grody, W.W., Stenzel, T.T. & Barton, D.E. Quality control in molecular genetic testing. Nat. Rev. Genet. 2, 717–723 (2001).

    Article  CAS  Google Scholar 

  13. Vastag, B. Cystic fibrosis gene testing a challenge: experts say widespread use is creating unnecessary risks. J. Am. Med. Assoc. 289, 2923–2924 (2003).

    Article  Google Scholar 

  14. Cuppens, H. & Cassiman, J.J. A quality control study of CFTR mutation screening in 40 different European laboratories. The European Concerted Action on Cystic Fibrosis. Eur. J. Hum. Genet. 3, 235–245 (1995).

    Article  CAS  Google Scholar 

  15. Dequeker, E. & Cassiman, J.J. Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur. J. Hum. Genet. 6, 165–175 (1998).

    Article  CAS  Google Scholar 

  16. Patton, S. et al. The European Molecular Genetics Quality Network (EMQN) in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 311 (2001).

    Article  Google Scholar 

  17. Mueller, C., Stoppa-Lyonnet, D. & Kristoffersson, U. An equality assessment scheme for genetic testing of familial breast/ovarian cancer in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 311 (2001).

    Article  Google Scholar 

  18. Losekoot, M. et al. An External Quality Assessment scheme for genetic testing of Huntington Disease in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 311–312 (2001).

    Article  Google Scholar 

  19. Stenhouse, S. & Ramsden, S.G.M. & Jean-Pierre, M. An External Quality Assessment scheme for genetic testing of Duchenne and Becker Muscular Dystrophy in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 312 (2001).

    Google Scholar 

  20. Barton, D., Sistermans, E. & Claustres, M. An External Quality Assessment Scheme for genetic testing of Friedreich Ataxia in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 312 (2001).

    Google Scholar 

  21. Rautenstrauss, B., Lupski, J. & Timmerman, V. An External Quality Assessment scheme for genetic testing of Charcot-Marie-Tooth disease in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 312 (2001).

    Google Scholar 

  22. European Society of Human Genetics. Provision of genetic practices in Europe: current practices and issues. Eur. J. Hum. Genet. 11 (S2), S2–S4 (2001).

  23. Dequeker, E. & Cassiman, J. Cost-efficient organisation of external quality assessments in molecular diagnostic laboratories in 10th International Congress on Human Genetics, Vienna, Austria. Eur. J. Hum. Genet. 9 (S1), 302 (2001).

    Google Scholar 

  24. Williams, L.O. et al. Quality assurance in human molecular genetics testing: status and recommendations. Arch. Pathol. Lab. Med. 127, 1353–1358 (2003).

    PubMed  Google Scholar 

  25. Gaskell, G., Allum, N. & Stares, S. Europeans and Biotechnology in 2002. Eurobarometer 58.0 (European Commission, Brussels, 2003). http://europa.eu.int/comm/publicopinion/archives/eb/ebs177en.pdf

    Google Scholar 

Download references

Acknowledgements

The study was done within the framework of the European Science and Technology Observatory Network. The European Molecular Genetics Quality Network and the Cystic Fibrosis Thematic Network were main cornerstones in producing the surveys.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Elisabeth Dequeker.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ibarreta, D., Elles, R., Cassiman, JJ. et al. Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 22, 1230–1235 (2004). https://doi.org/10.1038/nbt1004-1230

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/nbt1004-1230

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing