Regulatory Issues for Genetic Testing in Clinical Practice
- 83 Downloads
Whereas deliver of health care is nationally based with great differences in ways of service provision and financing between countries, and thus not subject to international regulations, genetic testing has become more exposed to international regulations and conventions. This is due to an interest of protecting the individual for abuse by inappropriate use of genetic information, but also to the fact that a specimen from a person aimed for a medical (clinical genetic) test is considered as “tradable goods”, and thus also subject to other non-medical associated regulations. There is a substantial transborder flow of samples for genetic testing thus requiring internationally accepted quality standards. Therefore, laboratories acting on an international market need to follow certain rules and regulations, also applicable to obtain high-quality standards nationally. Further, genetic testing for rare disorders is often provided by a limited number of non-commercial laboratories and associated with research programs for the individual disorders. International surveys have revealed that there is a general lack of high standards for quality assurance. This article is aimed to give an introduction and overview of regulations, conventions, and quality standards applicable for the laboratory who is seeking to improve there quality performance.
KeywordsGenetic testing Quality assurance Clinical genetic practice Regulations
- 2.Council of Europe (1997). Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine. http://conventions.coe.int/treaty/en/treaties/html/164.htm.
- 3.UNESCO (1997). The universal declaration of the human genome and human rights. http://unesdoc.unesco.org/images/0010/001096/109687eb.pdf.
- 4.WHO (1997). Proposed international guidelines on ethical issues in medical genetics and genetic service. http://www.who.int/ncd/hgn/hgnethig.htm.
- 5.HUGO (1996). Statement on the principled conduct of genetics research. http://www.hugo-international.org/hugo/conduct.htm.
- 6.European Society of Human Genetics (2008). Public and professional policy committee. http://ESHG.org.
- 7.Hastings, R. J., Cavani, S., Bricarelli, F. D., Patsalis, P. C., & Kristoffersson, U. (2007). Cytogenetic guidelines and quality assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations. European Journal of Human Genetics, 15, 525–527.CrossRefGoogle Scholar
- 8.OECD (2000). Genetic testing for the new millennium. http://www.oecd.org/dsti/sti/s_t/biotech/prod/genetic_testing.htm.
- 10.McGovern, M., Elles, R., Beretta, I.,Sommerville, M., Hoefler, G., Keinanen, M., Barton, D., Carson, N., Dequeker, E., Brdicka, R., Blazkova, A., Aymé, S., Schneiders, B., Müller, C., Dalen, V., Martinez, AA., Kristoffersson, U., Ozcuc, M., Mueller, H., Boone, J., Lubin, I., Sequerios, J., Taruscio, D., Williamson, B., Mainland, L., Yoshikura, H., & Ronchi, E. (2007). Report of an international survey of molecular genetic testing laboratories. Community Genetics, 10, 123–131.CrossRefGoogle Scholar
- 11.OECD guidelines for quality assurance in molecular genetic testing (2007). http://www.oecd.org/dataoecd/43/6/38839788.pdf.
- 12.General recommendations for quality assurance programs for laboratory molecular genetic tests (1999). http://www.phppo.cdc.gov/DLS/genetics/ default.asp.
- 13.25 recommendations on the ethical, legal and social implications of genetic testing. http://ec.europa.eu/research/conferences/2004/genetic/pdf/recommendations_en.pdf.
- 15.Wilson, J. M. G., & Jungner, G. (1968). Principles and practice of screening for disease. Geneva: World Health Organisation (Public health papers 34).Google Scholar
- 16.European Molecular Genetics Quality Network (2002). Best practice protocols http://www.emqn.org.