The Mount Sinai Journal of Medicine
The explosive growth in genetic technology will quickly make possible an unprecedented number of tests for genetically based conditions. A necessary condition for the use of such tests without risk of harm to the patient is that they are “accurate”. However, most discussions of test accuracy in the literature have equivocated between two importantly different meanings of the word. In particular, it must be kept in mind that a high analytical accuracy does not imply a high diagnostic accuracy. Questions about the diagnostic accuracy of genetic tests loom large at present given our limited knowledge of the complex etiology of disease and the distribution within the general population of the causal factors involved. Our current inability to supply patients with accurate diagnosis based on genetic information, however, is less problematic when examined in the context of new reproductive technologies such as in vitro fertilization (IVF) and intraplasmic sperm injection (ICSI).
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