Venus Kevin, Kwan Janice L, Frost David W
Division of General Internal Medicine and Geriatrics, University Health Network and Sinai Health System, Toronto, Canada.
Department of Medicine, University of Toronto, Toronto, Canada.
J Gen Intern Med. 2025 Mar;40(4):918-921. doi: 10.1007/s11606-024-09086-x. Epub 2024 Nov 1.
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.
患有罕见病的患者在出现症状到确诊之间往往会经历相当长的延迟，有些患者仍未得到诊断。在这篇观点文章中，我们概述了在现代临床环境中诊断罕见病所面临的诸多挑战。我们回顾了与罕见病相关的诊断推理的相关概念。我们介绍了目前可供临床医生使用的一些解决方案，以缓解其中的一些问题，包括促进审慎思考、利用诊断管理团队以及优化诊断校准。最后，我们推测诸如聊天机器人和由人工智能增强的决策支持工具等技术如何能够在不过度消耗资源的情况下，增强临床医生及时、准确诊断罕见病的能力。
