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Journal of Community Genetics

, Volume 1, Issue 1, pp 29–35 | Cite as

Scope of definitions of genetic testing: evidence from a EuroGentest survey

  • Jorge Pinto-Basto
  • Bárbara Guimarães
  • Elina Rantanen
  • Poupak Javaher
  • Irma Nippert
  • Jean-Jacques Cassiman
  • Helena Kääriäinen
  • Ulf Kristoffersson
  • Jörg Schmidtke
  • Jorge SequeirosEmail author
Original article

Abstract

Genetic testing is a term used in different settings, often with very different meanings. There are only very few studies published about the various possible definitions of “genetic testing”, and evidence is lacking from its use in professional practise. The need for precise definitions is particularly felt when producing legislation, policy recommendations or professional guidelines. EuroGentest Unit 3 (Clinical, Community and Public Health Genetics) had, as one of its objectives, to analyse definitions of “genetic testing” and propose consensus working definitions, if possible. To assess what was meant when using this term, in each individual professional context, a questionnaire was developed to evaluate if a consensus definition was desirable and achievable and what items or information should be included in the scope of such a definition. The questionnaire was sent to all EuroGentest partners and other registered users of its website; 135 answers were received, a response rate of 22%. The need for a consensus definition was acknowledged by the vast majority, although there was much less concordance about the possibility of attaining one. Clinical geneticists were the most supportive for context-dependent definitions. Conflicting perspectives arose, however, when discussing the inclusion of some type of tests, material or technology used. At issue seemed to be the distinction between the concepts of genetic material-based testing and genetic information.

Keywords

DNA-based genetic testing Genetic information Molecular genetic testing Cytogenetics Biochemical genetics Family history 

Notes

Acknowledgements

EuroGentest—Harmonizing Genetic Testing across Europe is a European Commission-funded Network of Excellence (http://www.eurogentest.org/). The authors wish to thank all respondents, and Ségoléne Aymée for her review of the survey form. We thank also Nick Nagels, web manager for EuroGentest for his availability and proficient work.

References

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Jorge Pinto-Basto
    • 1
  • Bárbara Guimarães
    • 1
  • Elina Rantanen
    • 2
  • Poupak Javaher
    • 3
  • Irma Nippert
    • 4
  • Jean-Jacques Cassiman
    • 5
  • Helena Kääriäinen
    • 2
    • 6
  • Ulf Kristoffersson
    • 7
  • Jörg Schmidtke
    • 3
  • Jorge Sequeiros
    • 1
    • 8
    Email author
  1. 1.UnIGENe and CGPP, IBMC–Institute for Molecular and Cell BiologyUniversity of PortoPortoPortugal
  2. 2.Department of Medical GeneticsUniversity of TurkuTurkuFinland
  3. 3.Department of Medical GeneticsHannover Medical SchoolHannoverGermany
  4. 4.Universitätsklinikum MünsterMünsterGermany
  5. 5.Center for Human GeneticsK.U. LeuvenLeuvenBelgium
  6. 6.National Institute for Health and WelfareHelsinkiFinland
  7. 7.Department of Clinical GeneticsLund University HospitalLundSweden
  8. 8.ICBASUniversity of PortoPortoPortugal

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