Missed opportunities in clinical practice: Tools to enhance healthcare providers' awareness and diagnosis of rare diseases in Australia

People with rare diseases often experience long delays from onset of symptoms to diagnosis. We aim to develop a clinical reasoning tool to highlight points in a patient’s journey when a clinician should re-evaluate existing diagnoses to consider rare diseases. We use three indicative diseases - Myositis, Primary Immune Deficiency Disorder and Sarcoidosis - that have average delayed diagnoses of over 8 years. In phase 1, we will interview people with the conditions, using visual timelines of their journey from symptom onset to map times and situations when clinicians should rethink existing diagnoses. In phase 2, we will use model case studies derived from Phase 1 to conduct talk-through interviews with clinicians (GPs, nurses, specialists) on decision-making for rare disease diagnoses. We will then develop clinical reasoning support resources for medical students, doctors, and nurses, including online interactive case studies, and filmed consultations with patients.

罕见病患者通常会经历从症状发作到确诊的漫长延误周期。本研究旨在开发一款临床推理工具，用于标记患者诊疗历程中，临床医生应重新评估现有诊断并考虑罕见病可能性的关键节点。我们选取三种具有代表性的疾病作为研究对象：肌炎（Myositis）、原发性免疫缺陷病（Primary Immune Deficiency Disorder）与结节病（Sarcoidosis），此类疾病的平均确诊延误时长均超过8年。在第一阶段，我们将访谈罹患上述疾病的患者，通过构建其从症状发作到确诊的可视化时间线，梳理临床医生需重新考量现有诊断的时间节点与具体场景。第二阶段，我们将依托第一阶段衍生的典型病例，与临床从业人员（全科医生（GPs）、护士、专科医生）开展模拟访谈，探讨罕见病诊断的决策流程。后续，我们将为医学生、医生及护士开发临床推理辅助资源，涵盖在线交互式病例案例以及患者就诊实录影像资料。