Quality Issues in Clinical Genetic Services; Regulatory Issues and International Conventions

  • Dolores IbarretaEmail author
  • Stuart Hogarth

Key Points

• Genetic testing is an activity which transcends national borders. Rare disease genetics has long involved an international exchange of human samples and related data and this globalisation is increasing in areas such as cancer diagnostics and consumer genetics. This international trade takes place in an environment where regulatory and oversight procedures vary significantly between jurisdictions.

• The last decade has witnessed an international discussion about both technical issues relating to the quality of genetic testing and broader ethical and social issues such as genetic discrimination. International Organisations such as the Council of Europe, the Organisation for Economic Cooperation and Development and the World Health Organisation have acted as policy fora and standard setting bodies.

• Key policy documents are the Council of Europe’s (1997) Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology (also called The Convention on Human Rights and Biomedicine) and its 2008 Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes and the OECD’s (2007) Best Practice Guidelines for Quality Assurance in Molecular Genetic Testing.

• Whilst these documents enshrine broadly accepted international standards it remains to be seen how they will be implemented and enforced at level of individual nation-states.


Quality assurance Accreditation Licensing Council of Europe Organisation for Economic Cooperation and Development World Health Organisation 


  1. Final report of the Temporary Committee on Human Genetics and other new technologies in modern medicine (16.01.2001 – 15.01.2002) (A5-0391/2001), European Parliament,
  2. Council of Europe: Committee of Ministers. Recommendation No. R (92) 3 on genetic testing and screening for health care purposes, 1992 Scholar
  3. Council of Europe. 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, 1997 (CETS No. 164)
  4. Council of Europe. Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes, 2008 (CETS No. 203)
  5. UNESCO: General Conference. Universal declaration on the human genome and human rights, 1997.
  6. International Declaration on Human Genetic Data, Adopted on 16 October 2003 by the 32nd session of the General Conference of UNESCO (SHS-2004/DECLAR.BIOETHIQUE CIB/4)
  7. World Health Organization Executive Board. Genomics and World Health: Report of the Advisory Committee on Health Research. 112th Session, Agenda Item 4.2. April 2003.
  8. Genomics and world health: report from the Advisory Committee on Health Research. Geneva: World Health Organization, 2002.
  9. OECD (Organisation for Economic Co-operation and Development) – Proceedings Genetic Testing Policy Issues for the New Millennium, 2001. Published by: OECD Publishing. ISBN: 92-64-18304-3
  10. OECD Genetic Testing: A Survey of Quality Assurance and Proficiency Standards, 2007. ISBN: 978-92-64-03201-9.Google Scholar
  11. OECD Guidelines for Quality Assurance in Genetic Testing, 2007.

Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  1. 1.Institute for Prospective Technological Studies (IPTS), European Commission Joint Research CenterSevilleSpain
  2. 2.Centre for Biomedicine and Society, King’s College LondonLondonUK

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