人工智能技术的应用:罕见病临床决策系统的需求、现状与挑战

罕见病的发病率极低，但其总体患病人数不少。罕见病引起的病变后果严重，对患者及其家庭和社会造成了沉重负担。虽然当前利用基因测序技术、临床决策支持系统结合人工智能技术辅助临床进行遗传病诊断的研究火热，但临床诊断罕见病仍是非常大的技术挑战。本文简要综述了罕见病临床决策系统，旨在分析人工智能技术在罕见病中的发展现状和挑战。
The incidence of rare diseases is extremely low, but the overall number of patients with rare diseases is quite large. The consequences of rare diseases are severe and impose a heavy burden on patients, their families and the entire society. Although there are many researches on gene sequencing technology and clinical decision support system (CDSS) combined with artificial intelligence technology to assist the diagnosis of rare diseases, the diagnosis of rare diseases remains a great challenge in clinical practice. In this paper, we briefly reviewed the CDSS for rare diseases, aiming to analyze the current technique status and challenges of artificial intelligence technology in rare diseases