Key Points
• It is essential to delineate clearly the purpose and scope of regulation.
• Clear, operational, context-dependent definitions should be used when regulating genetic testing.
• It is fundamental to separate the use of human and non-human biological material, and medical from non-medical applications.
• Clinical genetics applications need to be clearly separated from other medical uses of genetic tests.
• It is crucial to differentiate testing to confirm/exclude a medical diagnosis from genetic tests in healthy persons.
• The concept of genetics laboratory-based tests should be weighted against that of genetic information (which includes as well other sources and methods), depending on the purpose and scope of regulation.
• Always test your definitions of genetic testing against concrete practical examples.
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Sequeiros, J. (2010). Regulating Genetic Testing: The Relevance of Appropriate Definitions. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_3
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