Assessing case definitions in the absence of a diagnostic gold standard

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.