Assessing case definitions in the absence of a diagnostic gold standard

Abstract
Optimal case definition is important in epidemiological research, but can be problematic when no satisfactory gold standard is available. In particular, difficulties arise where the pathology underlying a disorder is unknown or cannot be reliably diagnosed. This problem can be overcome if diagnoses are viewed not necessarily as labels for disease processes, but more generally as a useful method for classifying people for the purpose of preventing or managing illness. With this perspective, the value of a case definition lies in its practical utility in distinguishing groups of people whose illnesses share the same causes or determinants of outcome (including response to treatment). A corollary is that the best-case definition for a disorder may vary according to the purpose for which it is being applied.