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.
Type
collection
Title
Missed opportunities in clinical practice: Tools to enhance healthcare providers' awareness and diagnosis of rare diseases in Australia
Brief Title
Enhancing awareness and diagnosis of rare diseases in Australia
Collection Type
Dataset
Access Privileges
Medicine & Health Sciences
DOI - Digital Object Identifier
10.25911/ednw-t549
Metadata Language
English
Data Language
English
Brief Description
These data include interviews with: 1. People with three rare diseases - Myositis, Sarcoidosis, and Primary Immune Deficiency disorders. 2. Health care providers, including general practitioners (GPs), nurses and specialists (including rheumatologists, haematologists, immunologists)
Full Description
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.
Contact Email
jane.desborough@anu.edu.au
Contact Address
National Centre for Epidemiology and Population Health College of Health and Medicine Australian National University 63 Eggleston Road Acton ACT 2601
Contact Phone Number
+61261256545
Principal Investigator
Jane Desborough
Supervisors
Jane Desborough
Collaborators
Myositis Association Australia Inc.; Sarcoidosis Australia; Immune Deficiency Foundation Australia (IDFA)
Fields of Research
320103 - Respiratory diseases ; 320223 - Rheumatology and arthritis ; 3204 - Immunology; 420304 - General practice; 420319 - Primary health care
Socio-Economic Objective
200101 - Diagnosis of human diseases and conditions
Keywords
Rare Disease; Myositis; Sarcoidosis; Primary Immune Deficiency; Diagnosis; Delayed Diagnosis; Misdiagnosis; Missed Diagnosis
Type of Research Activity
Applied Research
Date Coverage
2022
2021
Time Period
2021-2022
Date of data creation
2021
Year of data publication
2025
Creator(s) for Citation
Desborough
Jane
Parkinson
Anne
Namsrai
Tergel
Cook
Matthew
Phillips
Christine
Publisher for Citation
The Australian National University Data Commons
Access Rights
Contact Chief Investigator to negotiate access to the data.
Access Rights Type
Restricted
Rights held in and over the data
CC BY NC ND 4.0
Licence Type
CC-BY-NC-ND - Attribution-NonCommercial-NoDervis (Version 4.0)
Retention Period
Indefinitely
Extent or Quantity
35
Data Size
6.79MB
Data Management Plan
Yes

Request data files

Number of files: 35

Size: 5.78 MB

Identifier: anudc:6150

Status: Published
Published to:
  • Australian National University
  • Australian National Data Service
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