MRFF-funded research program
Working with communities to improve equitable, timely and culturally safe access to genomic diagnosis and care in New South Wales.
Genomic diagnosis is increasingly helping people with rare and complex conditions access more personalised and targeted care. But access to genomic health services is not equal.
Diagnosis4All exists to understand why these gaps occur and to work alongside communities, healthcare professionals and health services to close them.
About the program
Genomic diagnoses are increasingly helping people with rare and complex conditions access more personalised and targeted care. But access to genomic health services is not equal. Some communities are much less likely to receive a diagnosis, even when their health needs are similar.
Some communities are far less likely to receive a diagnosis, even when they have the same health needs as others. Diagnosis4All is researching why these gaps exist and what helps or hinders access to genomic diagnosis.
Diagnosis4All brings together lived experience, community knowledge, clinical expertise, research and implementation science to identify what helps, what gets in the way and what needs to change across the health system.
The program focuses on access that is equitable, timely and culturally safe.
Focus on who is missing out and what practical changes could make genomic diagnosis more accessible.
Help reduce avoidable delays in recognition, referral and access to genomic and undiagnosed disease pathways.
Design research, services and learning approaches that respect culture, language, community priorities and lived experience.
Who we are working with
Diagnosis4All is working with priority populations across New South Wales to understand their experiences, priorities and ideas for improving access to genomic diagnosis and care.
Priority community
The program is working with Aboriginal and Torres Strait Islander peoples in metropolitan, rural and remote New South Wales.
Priority community
Initial work has a particular focus on Arabic-speaking and Vietnamese-speaking communities and the barriers they may encounter in genomic health services.
Priority community
The program is examining how distance, referral pathways, workforce capacity and service availability affect access to genomic diagnosis outside major metropolitan centres.
What we are doing
The program combines community-led research with practical workforce learning. What we hear through listening and consultation will inform system recommendations, while the Community of Practice supports change in day-to-day care.
We work with people with lived experience, communities, healthcare professionals and health services to understand what helps—and what gets in the way—when people seek a genomic diagnosis.
A co-designed Genomic Equity Framework with practical recommendations for change across the NSW health system.
Diagnosis4All is creating a free online monthly learning community for healthcare professionals across New South Wales who support people with rare or undiagnosed conditions but are not genomic specialists.
Helping non-specialist professionals recognise when genomics may be relevant and navigate the next steps with patients and families.
Our goals
The program is focused on producing practical knowledge, partnerships and recommendations that can improve access to genomic diagnosis in New South Wales and inform wider policy and practice across Australia.
Identify what helps and what hinders equitable access to genomic diagnosis for priority populations.
Develop practical recommendations with communities for health-system change, rather than designing solutions in isolation.
Build health-professional knowledge, confidence and connections so people receive more respectful and responsive care.
Connect communities, healthcare professionals, health services and researchers around a shared equity agenda.
Translate the program’s findings into useful recommendations and resources that can support better genomics policy and service delivery in NSW and across Australia.
What organisations are involved
Diagnosis4All brings together clinicians, researchers, implementation scientists, consumer advocates, health services and community partners. Each group contributes a different form of expertise to the program.
Universities, institutes and research alliances contribute genomic, clinical, implementation and evaluation expertise.
Health-system partners connect the research with clinical pathways, workforce learning and practical implementation across NSW.
Consumer organisations and community contributors help keep lived experience, cultural safety and practical relevance central to the program.
Organisation website links open in a new browser tab.
How you can get involved
Diagnosis4All welcomes interest from people with lived experience, families, healthcare professionals, community organisations, health services and researchers. Some participation opportunities have limited places.
If you live with a rare or undiagnosed condition, or care for someone who does, you can express your interest in joining the Lived Experience Group.
Members help shape and guide the research and work alongside the project team to make genomic health services fairer and more culturally safe.
Healthcare professionals across New South Wales who support people with rare or undiagnosed conditions are invited to register their interest in the free online monthly Community of Practice.
The group is designed for professionals who are not genomic specialists and want to build knowledge, confidence and connections in culturally safe genomic care.