Looking for trouble? Diagnostics expanding disease and producing patients

Abstract

Novel tests give great opportunities for earlier and more precise diagnostics. At the same time, new tests expand disease, produce patients, and cause unnecessary harm in overdiagnosis and overtreatment. How can we evaluate diagnostics to obtain the benefits and avoid harm? One way is to pay close attention to the diagnostic process and its core concepts. Doing so reveals 3 errors that expand disease and increase overdiagnosis. The first error is to decouple diagnostics from harm, eg, by diagnosing insignificant conditions. The second error is to bypass proper validation of the relationship between test indicator and disease, eg, by introducing biomarkers for Alzheimer's disease before the tests are properly validated. The third error is to couple the name of disease to insignificant or indecisive indicators, eg, by lending the cancer name to preconditions, such as ductal carcinoma in situ. We need to avoid these errors to promote beneficial testing, bar harmful diagnostics, and evade unwarranted expansion of disease. Accordingly, we must stop identifying and testing for conditions that are only remotely associated with harm. We need more stringent verification of tests, and we must avoid naming indicators and indicative conditions after diseases. If not, we will end like ancient tragic heroes, succumbing because of our very best abilities.