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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

Abstract

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.

Keywords

Legislation Definition Genetic test Genetic information EuroGentest 

Supplementary material

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

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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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