Advertisement

Journal of Community Genetics

, Volume 5, Issue 1, pp 49–57 | Cite as

Issues concerning the evaluation and regulation of predictive genetic testing

  • R. L. ZimmernEmail author
Original Article

Abstract

This paper is a précis of my keynote address at the Symposium on Predictive Genetic Testing organised by the Robert Koch Institute in Berlin. The talk is based on reflections which I have had over a number of years on genetic testing and its evaluation and regulation. It presents a thesis, which I hope will generate discussion and comment. A theme which will run through the paper is the need for precise definition of terms before making any normative statement about such terms. Our failure to do so in genetic discourse is at best confusing and at worst capable of resulting in inappropriate (and sometimes harmful) regulatory responses.

Keywords

Genetic Test Genetic Discrimination Predictive Genetic Test Robert Koch Institute Heritable Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Becker F, van El CG, Ibarreta D, Zika E et al (2011) Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Eur J Hum Genet 19:S6–S44PubMedCrossRefGoogle Scholar
  2. Bossuyet PM, Reitsma JB, Bruns DE et al (2003) Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. BMJ 326:41–44CrossRefGoogle Scholar
  3. Burke W, Zimmern RL (2004) Ensuring the appropriate use of genetic tests. Nature Rev Genet 5(12):955–958PubMedCrossRefGoogle Scholar
  4. Burke W and Zimmern R (2007). Moving beyond ACCE: An expanded framework for genetic test evaluation. A paper for the UK Genetic Testing Network. PHG FoundationGoogle Scholar
  5. European Parliament (2002) European Parliament Resolution on the Commission Communication on Life Sciences and Biotechnology – A Strategy for Europe (COM (2002) 27) of 21 November 2002. Available at http://www.europarl.europa.eu/sides/getDoc.do?pubRef=-//EP//TEXT+TA+P5-TA-2002-0566+0+DOC+XML+V0//EN. Accessed 4 April 2012
  6. Furness P, Zimmern R, Wright C, Adams A (2008) The evaluation of diagnostic laboratory tests and complex biomarkers. Summary of a Diagnostic Summit 14-15 Jan 2008. PHG Foundation and Royal College of Pathologists. Available at http://www.phgfoundation.org/file/3998/. Accessed 4 April 2012
  7. Global Harmonization Task Force (2007). Clinical Evaluation. Available at http://www.ghtf.org/documents/sg5/sg5_n2r8_2007final.pdf. Accessed 4 April 2012
  8. Hansard (2006) House of Commons on Genetic Discrimination on 15 March 2006. Available at http://www.publications.parliament.uk/pa/cm200506/cmhansrd/vo060315/halltext/60315h02.htm#60315h02_head0. Accessed 4 April 2012
  9. Human Genetics Commission (2002) Inside information: Balancing interests in the use of personal genetic data. Department of Health. London. Available at http://www.hgc.gov.uk/insideinformation_summary.pdf. Accessed 4 April 2012
  10. Human Genetic Examination Act (Genetic Diagnosis Act – GenDG) (2009) Available at http://www.eurogentest.org/uploads/1247230263295/GenDG_German_English.pdf. Accessed 4 April 2012
  11. Jörg Schmidke (2012); Eva Fisher (2012). Personal communicationGoogle Scholar
  12. Neil C, Manson NC, Onora O’Neill O (2007) Rethinking informed consent in bioethics. Cambridge University Press, CambridgeGoogle Scholar
  13. Nuffield Council on Bioethics (2006) Genetic Screening: a supplement to the 1993 report. Nuffield Council on Bioethics. London. Available at http://www.nuffieldbioethics.org/GeneticScreening_Suppl2006.pdf. Accessed 4 April 2012
  14. Sequeiros J, Paneque M, Guimaraes B et al (2012) The wide variation of definitions of genetic testing in international recommendations, guidelines and reports. J Community Genet 3(2):113–124PubMedCentralPubMedCrossRefGoogle Scholar
  15. UNESCO (1997) Article 1 of the Universal Declaration of the Human Genome and Human Rights. Available at http://www.unesco.org/new/en/social-and-human-sciences/themes/bioethics/human-genome-and-human-rights/. Accessed 4 April 2012
  16. Wright CF, Hall A, Zimmern RL (2010) Regulating direct-to-consumer genetic tests: what is all the fuss about? Genet Med 13:295–300CrossRefGoogle Scholar
  17. Zimmern RL (1999) Genetic Testing: a conceptual exploration. J Med Ethics 25:151–156PubMedCrossRefGoogle Scholar
  18. Zimmern RL (2009) Milroy lecture. Testing challenges: evaluation of novel diagnostics and molecular biomarkers. Clin Med 9:68–73PubMedCrossRefGoogle Scholar
  19. Zimmern R and Kroese M (2006) The evaluation of novel genetic tests and complex molecular biomarkers. A paper for the UK Genetic Testing Network. PHG FoundationGoogle Scholar
  20. Zimmern RL, Kroese M (2007) The evaluation of genetic tests. J Public Health 24:1–5Google Scholar

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  1. 1.Foundation for Genomics and Population HealthCambridgeUK

Personalised recommendations