Key Points
• Many genetic tests are not sufficiently evaluated because of limited knowledge and resources.
• The development of standards and guidelines for analytic and clinical validity and clinical utility of genetic tests is thus still in its infancy.
• It will not be possible to achieve universal or comprehensive consensus on such standards, but rather only in a general form.
• It is foreseeable that evaluation standards for more common diseases will be easier to develop than for very rare disorders.
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Javaher, P., Schmidtke, J. (2010). Clinical Validity and Utility of Genetic Testing in Heritable Disorders. 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_15
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DOI: https://doi.org/10.1007/978-90-481-3919-4_15
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