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Recent research has greatly increased knowledge of gene mutations that are responsible for a wide array of diseases. As basic science increases the understanding of these mutations, clinicians are asking if there is sufficient evidence to recommend specific genetic tests for their patients: Are the imperfect accuracy and ambiguity of testing likely to do more harm than good?
Sensitivities, specificities, and positive and negative predictive values of genetic testing in 2 groups of patients with hemochromatosis. A, Patients with elevated transferrin iron saturation only. B, Patients with diabetes mellitus and elevated transferrin iron saturation. Blue and red marks indicate true positives; blue marks alone, false negatives; red marks alone, false positives; and no marks, true negatives. The pretest probability for patients with and without diabetes mellitus and elevated transferrin iron saturation is assumed to be 5% and less than 1%, respectively.
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