Clinical validity and utility of genetic testing in heritable disorders

Abstract

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.