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

Nature Biotechnology volume 22, pages 1230–1235 (2004)Cite this article

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.

Testing for hereditary diseases has developed over the years into an important aspect of genetic service provision. In a rush to bring these powerful new technologies into medical use, issues of quality have not always been given sufficient attention. There are documented indications that genetic tests as they are performed now do not ensure the quality desired. In Europe, an external quality assessment (EQA) scheme organized by the European Molecular Genetics Quality Network (EMQN) for the diagnosis of Huntington disease showed a misdiagnosis rate of 1.3%1 and in the case of cystic fibrosis testing, the survey found that more than half of the participating labs made mistakes2. According to surveys carried out in 1997 and 1999, the practice standards of a number of laboratories in the United States are in need of improvement as well3,4.

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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

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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.

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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
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  2. Robert Elles
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  3. Jean-Jacques Cassiman
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  4. Emilio Rodriguez-Cerezo
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  5. Elisabeth Dequeker
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Correspondence to Elisabeth Dequeker.

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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

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