Identifying hidden patients with rare diseases in real-world research: a case study

In this Editorial, Justin Chen, Consultant and Victoria Divino, Principal from IQVIA, Real World Solutions – Health Economics and Outcomes Research discuss a recent case study describing an innovative approach and solution to identify ‘hard-to-find’ (e.g., rare diseases, lack of consensus on available diagnosis codes) patients in real-world databases. The method relied upon the development of a step-by-step algorithm to identify patients with certain rare diseases which are often both mis-coded and under-coded. Why are patients ‘hidden’ in real-world databases? When outcomes researchers conduct real-world retrospective studies with available secondary databases, diagnosis codes (such as the International Classification of Diseases, Ninth...