Quality issues in molecular genetic testing

Abstract

Two recent international documents on the regulation of genetic testing services are reviewed with respect to their impact on quality assurance in molecular genetic diagnostics, i.e. the Additional Protocol concerning Genetic Testing for Health Purposes (Council of Europe, ETS No. 203), as an addendum to the Convention on Human Rights and Biomedicine (ETS No. 164) released by the Council of Europe (CE) and the OECD Guidelines for Quality Assurance in Molecular Genetic Testing. • Whilst the CE have reiterated and specified the fundamental human rights as laid out in the Convention on Human Rights and Biomedicine in view of their application to genetic testing, the OECD have compiled an internationally agreed set of criteria for practical quality assurance in a molecular genetic testing laboratory. • Both documents address the principal actors involved: the governments and regulatory bodies in charge of oversight and control and the genetic services and laboratories themselves. Regulators are encouraged to review and develop the existing national legislation and to implement the instruments for quality assurance monitoring. Laboratories are urged to establish a quality management system and to enter a cycle of continuous improvement. • Together, the documents provide a framework for action on quality issues of genetic testing by governmental regulators and the genetic diagnostics community.