Rising to the Challenge of Rare Diagnoses

Abstract

Patients with rare conditions often experience substantial delays between presentation and diagnosis, and some remain undiagnosed. In this Perspective, we outline the many challenges in diagnosing rare conditions in the modern clinical context. We review relevant concepts of diagnostic reasoning as they relate to rare conditions. We present solutions currently available for clinicians to mitigate some of these problems, including facilitating deliberate reflection, utilizing a diagnostic management team, and optimizing diagnostic calibration. Finally, we speculate how technology, such as chatbots and decision support tools enhanced by artificial intelligence, may augment a clinician's ability to diagnose rare conditions in a timely and accurate manner without excessive resource use.