Journal of Community Genetics

, Volume 3, Issue 2, pp 125–141 | Cite as

Definitions of genetic testing in European legal documents

  • Orsolya Varga
  • Sirpa Soini
  • Helena Kääriäinen
  • Jean-Jacques Cassiman
  • Irmgard Nippert
  • Wolf Rogowski
  • Herman Nys
  • Ulf Kristoffersson
  • Jörg Schmidtke
  • Jorge SequeirosEmail author
Original Article


The definition of “genetic testing” is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal documents were identified and examined—55 national and five international ones. Documents were analysed for the type (context) of testing and the material tested and compared by legal fields (privacy and confidentiality, data protection, biobanks, insurance and labour law, forensic medicine); some instruments are very complex and deal with various legal fields at the same time. There was no standard for the definitions used, and different approaches were identified (from wide general, to some very specific and technically based). Often, legal documents did not contain any definitions, and many did not distinguish between genetic testing and genetic information. Genetic testing was more often defined in non-binding legal documents than in binding ones. Definitions are core elements of legal documents, and their accuracy and harmonisation (particularly within a particular legal field) is critical, not to compromise their enforcement. We believe to have gathered now the evidence for adopting the much needed differentiation between (a) “clinical genetics testing”, (b) “genetics laboratory-based genetic testing” and (c) “genetic information”, as proposed before.


Legislation Definition Genetic test Genetic information EuroGentest 

Supplementary material

12687_2012_77_MOESM1_ESM.docx (89 kb)
ESM 1 (DOCX 88 kb)


  1. Central European University (2005) Center for Ethics and Law in Biomedicine. Accessed 31 December 2008
  2. Committee of Ministers of Council of Europe (1996) Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine, Explanatory Report. DIR/JUR (97) 5. Secretary General of the Council of Europe, StrasbourgGoogle Scholar
  3. Council of Europe (1997) Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine, Oviedo, 4.IV.1997. ETS No. 164. OviedoGoogle Scholar
  4. Council of Europe (2008) Additional Protocol to the Convention on Human Rights and Biomedicine, Concerning Genetic Testing for Health Purposes. No. 203 Council of Europe Treaty Series ed, StrasbourgGoogle Scholar
  5. EuroGentest (2008) European Ethical & Legal Papers, no. 1–16. WP6.4 of EuroGentest. Accessed on 29 December 2011
  6. European Commission (2004) 25 Recommendations on the Ethical, Legal and Social Implications of Genetic Testing. Directorate-General for Research, Brussels. ISBN 92-894-7308-8Google Scholar
  7. Gibbons SM (2007) Are UK genetic databases governed adequately? A comparative legal analysis. Leg Stud 27(2):312–342. doi: 10.1111/j.1748-121X.2007.00045.x CrossRefGoogle Scholar
  8. HumGen Database of Laws and Policies (2008) Accessed 31 December 2008
  9. Kosseim P, Letendre M, Knoppers BM (2004) Protecting genetic information: a comparison of normative approaches. GenEdit 2(1):1–8Google Scholar
  10. Krajewska A (2009) Conceptual quandaries about genetic data—a comparative perspective. Eur J Health Law 16(1):7–26PubMedCrossRefGoogle Scholar
  11. Lexadin: The World Law Guide (2008) Accessed 31 December 2008
  12. Lwoff L (2009) Council of Europe adopts Protocol on Genetic Testing for Health Purposes. Eur J Hum Genet 17(11):1374–1377. doi: 10.1038/ejhg.2009.84 PubMedCrossRefGoogle Scholar
  13. OECD Directorate for Science, Technology and Industry (2008);,3380,en_2649_34537_1_1_1_1_1,00.html. Accessed 31 December 2008.
  14. Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J (2010) Scope of definitions of genetic testing: evidence from a survey amongst various genetics professionals. J Commun Genet 1:29–35CrossRefGoogle Scholar
  15. Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H (2008) Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives. Eur J Hum Genet 16(10):1208–1216. doi: 10.1038/ejhg.2008.93 PubMedCrossRefGoogle Scholar
  16. Sequeiros J (2010) Regulating genetic testing: the relevance of appropriate definitions. In: Kristoffersson U, Schmidtke J, Cassiman JJ (eds) Quality issues in clinical genetic services. Springer, Berlin pp 23–32Google Scholar
  17. Sequeiros J, Paneque M, Guimarães B, Rantanen E, Javaher P, Nippert I, Schmidtke J, Kääriäainen H, Kristoffersson U, Cassiman JJ (in this issue) The Wide Variation of Definitions of Genetic Testing in International Recommendations, Guidelines and ReportsGoogle Scholar
  18. Trubeck DM, Cottrell P, Nance M (2005): Soft law, hard law, and European integration: toward a theory of hybridity. University of Wisconsin–Madison, 21 April 2005; Accessed 29 December 2011
  19. Varga O, Sequeiros J (2008) Definitions of genetic testing in European and other legal documents. Accessed 1 January 2009
  20. WHO (2008a) Ethical, legal, social implications & issues of human genome project genetics resource directory (ELSI ReD); Accessed 31 December 2008
  21. WHO (2008b) International Digest of Health Legislation (2008b); Accessed 31 December 2008

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Orsolya Varga
    • 1
  • Sirpa Soini
    • 2
  • Helena Kääriäinen
    • 3
  • Jean-Jacques Cassiman
    • 4
  • Irmgard Nippert
    • 5
  • Wolf Rogowski
    • 6
  • Herman Nys
    • 7
  • Ulf Kristoffersson
    • 8
  • Jörg Schmidtke
    • 9
  • Jorge Sequeiros
    • 1
    • 10
    Email author
  1. 1.Institute for Molecular and Cell Biology (IBMC)University of PortoPortoPortugal
  2. 2.Faculty of LawUniversity of HelsinkiHelsinkiFinland
  3. 3.National Institute for Health and WelfareHelsinkiFinland
  4. 4.Center for Human GeneticsUniversity of LeuvenLeuvenBelgium
  5. 5.Universitätsklinikum MünsterMünsterGermany
  6. 6.Institute of Health Economics and Health Care ManagementHelmholtz Center MunichNeuherbergGermany
  7. 7.Centre for Biomedical Ethics and LawKatholieke Universiteit LeuvenLeuvenBelgium
  8. 8.Department of Clinical GeneticsUniversity and Regional Laboratories and Lund University HospitalLundSweden
  9. 9.Department of Medical GeneticsHannover Medical SchoolHannoverGermany
  10. 10.ICBASUniversity of PortoPortoPortugal

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