Skip to main content
SpringerLink
Log in

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

  • Feature
  • Published:

From Nature Biotechnology

View current issue Submit your manuscript

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, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

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

  1. European Commission, Joint Research Center (JRC), Institute for Prospective Technological Studies (IPTS), Edificio Expo, Seville, E-41092, Spain

    Dolores Ibarreta & Emilio Rodriguez-Cerezo

  2. Department of Medical Genetics, National Genetics Reference Laboratory (Manchester), St. Mary's Hospital, Hathersage Road, Manchester, M13 0JH, UK

    Robert Elles

  3. Center for Human Genetics, Campus Gasthuisberg, Leuven, B-3000, Belgium

    Jean-Jacques Cassiman & Elisabeth Dequeker

Authors
  1. Dolores Ibarreta
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Robert Elles
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jean-Jacques Cassiman
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Emilio Rodriguez-Cerezo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Elisabeth Dequeker
    View author publications

    You can also search for this author in PubMed Google Scholar

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

  • Springer Nature America, Inc.

This article is cited by

Search

Navigation