Appendix 5: Development of the National Recommendations for Rare Disease Health Care

Initial research was conducted to identify relevant standards, frameworks, and other publications. These are listed in Appendix 3. These documents were used to shape initial drafts. Subsequent versions were cross-checked to ensure continued alignment.

The Recommendations were developed in close consultation with education experts, health professionals, and people living with rare disease. The following groups were consulted on the framing, development, and endorsement of the Recommendations.

RArEST Project Steering Committee Health, education, policy, and rare disease experts from:
• UNSW Sydney, Faculty of Medicine and Health
• Rare Voices Australia
• University of Western Australia, School of Paediatrics and Child Health
• Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children’s Hospital
• Macquarie University, Australian Institute of Health Innovation
RArEST Project Stakeholder Reference Group Twelve people with lived experience of rare disease, with representation from priority populations, including:
• Aboriginal and Torres Strait Islander people
• People experiencing socioeconomic hardship
• People from culturally and linguistically diverse backgrounds
• People living in regional, rural, or remote communities
• People suspected of having an undiagnosed rare disease
RArEST Project (Stream 2) Health Professional Education and Training Working Group Health and education professionals, including nurses, general practitioners, and medical specialists from:
• UNSW Sydney
• Rare Voices Australia
• University of Western Australia, School of Paediatrics and Child Health
• Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children’s Hospital
• Australian Genomics


This document was also reviewed by the following organisations as part of their endorsement process:

  • Australian College of Children & Young People Nurses
  • Australian College of Nurse Practitioners
  • Australian College of Rural and Remote Medicine
  • Australian Genomics
  • Australian Primary Health Care Nurses Association
  • Australian Rheumatology Association
  • Human Genetics Society of Australasia
  • Royal Australian College of General Practitioners
  • Rural Doctors Association of Australia