Key Points
• The evaluation of genetic testing services is essential for ensuring quality, and determining whether genetic tests offer a health benefit to the population. However, this is complex process, because any given test may be used in different contexts and for different purposes.
• It is therefore useful to distinguish between: an assay, the measurement of a genetic sequence; a test, the use of an assay in a particular context; and a service, which embraces performing, processing, and interpreting the test, in addition to informing and supporting the patient.
• This distinction has important practical implications for both evaluation and regulation of medical testing services.
• Quality standards may be set for all three aspects of genetic testing, relating to the testing process itself, the possible outcome(s) and structure of the service, then monitored and improved using a formal audit cycle.
• Different regulatory models may be appropriate for the three aspects of genetic testing services, including statutory legislation, professional self-governance and voluntary guidance.
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Wright, C.F., Zimmern, R.L. (2010). Quality Issues in the Evaluation and Regulation of Genetic Testing Services: A Public Health Approach. 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_27
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