Identification of Sufferers of Rare Diseases Using Medical Claims Data

Introduction Patients who suffer from rare diseases can be hard to diagnose for prolonged periods of time. In the process, they are often subjected to tentative treatments for ailments they do not have, risking an escalation of their actual condition and side effects from therapies they do not need. An early and accurate detection of these cases would enable follow-ups for precise diagnoses, mitigating the costs of unnecessary care and improving patients’ outcomes.