Clinical validity and utility of genetic testing – the viewpoint of a clinical geneticist
Jörg Schmidtke

Definitions:
Clinical validity in genetic testing is a measurement of the accuracy (such as clinical sensitivity and
specificity as well as predictive value) with which a test identifies or predicts a clinical condition.
Clinical utility refers to the ability of genetic test results, either positive or negative, to provide
information that is of value in the clinical setting.
Although clinical validity and clinical utility are going to be important criteria in the decision making
process of whether or not to offer and apply a genetic test, the development of standards and hence
guidelines within the scientific community and health care providers of how to assess clinical validity
and clinical utility are still in its infancy.
In order to establish such a framework, factors that will have to be considered include:
1. Scope of genetic testing
2. The clinical setting of genetic testing
2.1 Diagnostic
2.2 Predictive
2.3 For reproductive choice

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