Journal of Community Genetics

, Volume 3, Issue 2, pp 113–124 | Cite as

The wide variation of definitions of genetic testing in international recommendations, guidelines and reports

  • Jorge SequeirosEmail author
  • Milena Paneque
  • Bárbara Guimarães
  • Elina Rantanen
  • Poupak Javaher
  • Irma Nippert
  • Jörg Schmidtke
  • Helena Kääriäainen
  • Ulf Kristoffersson
  • Jean-Jacques Cassiman
Original Article


In spite of being very commonly used, the term genetic testing is debatable and used with several meanings. The diversity of existing definitions is confusing for scientists, clinicians and other professionals, health authorities, legislators and regulating agencies and the civil society in general, particularly when genetic testing is the object of guidelines or legal documents. This work compares definitions of genetic testing found in recommendations, guidelines and reports from international institutions, policy makers and professional organizations, but also in documents from other stakeholders in the field, as the pharmaceutical industry, insurers, ethics bodies, patient organizations or human-rights associations. A systematic review of these documents confirmed the extreme variability existing in the concepts and the ambiguous or equivocal use of the term. Some definitions (narrower) focus on methodologies or the material analysed, while others (broader) are information- or context-based. Its scope may range from being synonymous of just DNA analysis, to any test that yields genetic data. Genetic testing and genetic information, which may be derived from a range of medical exams or even family history, are often used interchangeably. Genetic testing and genetic screening are sometimes confused. Human molecular genetics (a discipline) is not always distinguished from molecular biology (a tool). Professional background, geographical context and purpose of the organizations may influence scope and usage. A common consensus definition does not exist. Nevertheless, a clear set of precise definitions may help creating a common language among geneticists and other health professionals. Moreover, a clear context-dependent, operative definition should always be given.


Definition Genetic test Genetic information Screening Soft law EuroGentest 



This work was produced as part of the European Commission financed (FP6) Network of Excellence, EuroGentest—Harmonizing Genetics Testing across Europe. We thank all members and experts, particularly those of former Unit 3 (Clinical Genetics, Community Genetics and Public Health), as well as the members of the External Advisory Board who provided helpful comments at meetings and the general assemblies of the network. We are particularly grateful to Ron Zimmern of the PHG Foundation, Cambridge, UK, for helpful discussions.

Supplementary material

12687_2012_84_MOESM1_ESM.docx (245 kb)
Definitions of genetic testing found in recommendations, guidelines, reports, statements, positions and other documents from the following organizations


  1. ACGT, The Ad Hoc Committee on Genetic Testing/Insurance Issues (1995) Genetic testing and insurance—background statement. Am J Hum Genet 56:327-331Google Scholar
  2. ACLU, American Civil Liberties Union (1998), National Taskforce on Civil Liberties in the Workplace. Testimony Presented to the Senate Labor and Human Resources Committee, Washington, DC, 21 May 1998; Accessed 31 Dec 2011
  3. AHRQ, Agency for Healthcare Research and Quality, US Department of Health and Human Services (2010) Quality, regulation and clinical utility of laboratory-developed molecular tests, Technology Assessment Report by the ECRI Institute Evidence-based Practice Center, 6 Oct 2010; Accessed 31 Dec 2011
  4. AMP, Association for Molecular Pathology (2005) AMP comments on Proposed Best Practices for the Licensing of Genomic Inventions, Secretary’s Advisory Committee on Genetics, Health and Society Public Comment from the Association for Molecular Pathology, presented by MS Williams (1 Mar 2005);
  5. ASHG (2000) Response to Request for Public Comments on Preliminary Final Recommendations on Oversight of Genetic Testing, 22 May 2000; Accessed 31 Dec 2011
  6. CAP, College of American Pathologists (2000) “Regulatory comments” of Paul Bachner (President) to the Secretary’s Advisory Committee on Genetic Testing, National Institutes of Health, 24 May 2000;{actionForm.contentReference}=advocacy%2Fcomments%2Fgencomm.html&_state=maximized&_pageLabel=cntvwr. Accessed 31 Dec 2011
  7. CLIAC, Clinical Laboratory Improvement Advisory Committee (1998) Summary report, Genetic Testing Subcommittee, 30–31 Jul 1998, US Department of Health & Human Services, Public Health Service, CDC (Centres for Disease Control and Prevention); Accessed 31 Dec 2011
  8. CoE, Council of Europe (1992) Recommendation R(92)3 of the Committee of Ministers to Member States on Genetic Testing and Screening for Health Care Purposes, 10 Feb 1992; Accessed 30 Dec 2011
  9. CoE, Council of Europe (2008) Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes—explanatory report; Accessed 30 Dec 2011
  10. EC, European Commission, The European Group on Ethics in Science and New Technologies (EGE) (2003) Opinion on the ethical aspects of genetic testing in the workplace, opinion n°18 (28 July 2003); Accessed 31 Dec 2011
  11. EC, European Commission, Expert Group (2004a) “The Independent Expert Group—ethical, legal and social aspects of genetic testing: research, development and clinical applications”. In: Science and society: Report, European Commission, Directorate-General for Research, Brussels. ISBN 92-894-7324-X; Accessed 1 Nov 2011
  12. EC, European Commission, Expert Group (2004b) (McNally E, Cambon-Thomsen A, Brazell C, Cassiman JJ, Kent A, Lindpaintner A, Lobato de Faria P, Niese D, Abbing HR, Solbakk JH, Tack H, Tambuyzer E, Weihrauch TR, Wendel E, Rhode B, Salvi M) “25 Recommendations on the ethical, legal and social implications of genetic testing”. In: Science and society, European Commission, Directorate-General for Research, Brussels. ISBN 92-894-7308-8; Accessed 1 Nov 2011
  13. ESHG (2003) Genetic information and testing in insurance and employment: technical, social and ethical issues—recommendations of the ESHG. Eur J Hum Genet 11 Suppl 2:S11–S12Google Scholar
  14. FDA, Food and Drug Administration (2007) Guidance for Industry and FDA staff–pharmacogenetic tests and genetic tests for heritable markers, 19 Jun 2007; Accessed 30 Dec 2011
  15. GIG, Genetic Interest Group (1998) Confidentiality guidelines; Accessed 31 Dec 2011
  16. Godard B, Raeburn S, Pembrey M, Bobrow M, Farndon P, Aymé S (2003) Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet 11 Suppl 2:S123–S142 Google Scholar
  17. Ibarreta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E (2004) Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 22:1230–1235PubMedCrossRefGoogle Scholar
  18. Kroese M (2005) Paper for UKGTN Steering Group Meeting Testing Criteria for Molecular Genetic Tests, 15 Aug 2005; Accessed 30 Dec 2011
  19. Kroese M, Zimmern RL, Sanderson S (2004) Genetic tests and their evaluation: can we answer the key questions? Genet Med 6:475–480PubMedCrossRefGoogle Scholar
  20. Matthiessen-Guyader L (ed.) Survey on national legislation and activities in the field of genetic testing in EU Member States. EC Directorate-General Research, Directorate E —Biotechnology, Agriculture and Food, 1 May 2005; Accessed 30 Dec 2011
  21. NAHU, National Association of Health Underwriters (2002) Testimony for the Record, The United States Senate. Health, Education, Labor and Pensions Committee, Hearing on genetic discrimination, 13 Feb 2002; Accessed 31 Dec 2011
  22. NCI, National Cancer Institute, NIH, US Dictionary of Cancer Terms (undated); Accessed 30 Dec 2011
  23. OECD, Organisation for Economic Co-Operation and Development (2007) Guidelines for quality assurance in molecular genetic testing; Accessed 2 Nov 2011
  24. 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 Community Genet 1:29–35PubMedCrossRefGoogle Scholar
  25. Roche Pharmaceuticals, Hoffman-La Roche Inc., New Jersey (2005) Genetic testing in research & healthcare;
  26. 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 23–32CrossRefGoogle Scholar
  27. Sequeiros J, Guimarães G (2008) Definitions of genetic testing EuroGentest; Accessed 31 Oct 2011Google Scholar
  28. Tabar P (2005) The urge to converge. A network primed for data and high-quality voice over IP can accomplish plenty. Healthc Inform 22: 35-6, 38, 40Google Scholar
  29. UKGTN, UK Genetic Testing Network (2008) First report of the UKGTN—supporting genetic testing in the NHS; Accessed 30 Dec 2011
  30. UNESCO - United Nations Educational, Scientific and Cultural Organization (2003) International Declaration on Human Genetic Data (modified from ACGT and NCB); Accessed 30 Dec 2011
  31. Varga O, Sequeiros J (2008) Definitions of genetic testing in European and other legal documents; Accessed 31 Oct 2011
  32. Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J (2012) Definitions of genetic testing in European legal documents. J Commun Genet. doi: 10.1007/s12687-012-0077-1
  33. WHO, World Health Organization (1998) Proposed international guidelines on ethical issues on medical genetics and genetic services; Accessed 30 Dec 2011
  34. WHO, World Health Organization (2005) Genetics, genomics and the patenting of DNA: review of potential implications for health in developing countries. Human Genetics Programme. Chronic Diseases and Health Promotion; Accessed 30 Dec 2011

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Jorge Sequeiros
    • 1
    • 2
    Email author
  • Milena Paneque
    • 1
    • 2
  • Bárbara Guimarães
    • 1
  • Elina Rantanen
    • 3
  • Poupak Javaher
    • 4
  • Irma Nippert
    • 5
  • Jörg Schmidtke
    • 4
  • Helena Kääriäainen
    • 3
  • Ulf Kristoffersson
    • 6
  • Jean-Jacques Cassiman
    • 7
  1. 1.IBMC-Institute for Molecular and Cell BiologyUniversity PortoPortoPortugal
  2. 2.ICBASUniversity PortoPortoPortugal
  3. 3.National Institute for Health and WelfareHelsinkiFinland
  4. 4.Department Human GeneticsHannover Medical SchoolHannoverGermany
  5. 5.Women’s Health Research UnitUniversitätsklinikum MünsterMünsterGermany
  6. 6.Department Clinical GeneticsUniv. and Regional Laboratories and Lund UniversityLundSweden
  7. 7.Center for Human GeneticsUniversity LeuvenLeuvenBelgium

Personalised recommendations