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

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.