ABOUT GENOGUIDE
The research behind Genoguide
Genoguide is a federally funded research project helping clinicians who aren't genetics specialists deliver Medicare-funded genomic testing — safely, confidently, and at scale across Australia.
Implementation Lab
TD School, University of Technology Sydney
Project Fact Sheet
Enhancing Genomic Testing Pathology Orders: A Digital Decision Support Tool
2024 – 2026 · University of Technology Sydney
Funded by
Australian Government Department of Health and Aged Care
Grant
Quality Use of Pathology Project Grants 2023–25 · GO6641
Ethics
UTS Human Research Ethics Committee · ETH24-9936
Support
NSW Health — NSW Health Genomics Strategy
Why This Project Exists
Genomic testing has outpaced the support available to the clinicians ordering it.
Medicare now funds a growing number of genomic tests that are ordered not by genetics specialists, but by paediatricians, nephrologists, cardiologists, and other clinicians. Yet these tests remain underused and often mis-ordered — clinicians face complex eligibility criteria, unfamiliar consent processes, and no accessible tools to navigate them. Families miss out on testing, or face unnecessary tests and delayed diagnoses.
Genoguide is the outcome of the research project “Enhancing Genomic Testing Pathology Orders: A Digital Decision Support Tool” — the first of its kind to tackle this challenge with a scalable, evidence-based digital tool, co-designed with the clinicians who use it.
5×
more likely to reach a diagnosis than previous gold-standard tests
9+
Medicare-funded genomic test item numbers clinicians can now order
6 yrs
of genomic implementation research behind the project
How the Research Works
Four phases, each shaped by the clinicians who will use the tool — geneticists, genetic counsellors, paediatricians, nephrologists, and cardiologists.
01
Requirement analysis
Mapping Australia's genomic testing pathways from published guidance, then validating them through interviews with clinical geneticists, genetic counsellors, paediatricians, nephrologists, and cardiologists.
2025
02
Design & development
Co-designing and building the digital tool, shaped directly by what clinicians told us they need at each step of the testing pathway.
Late 2025
03
Prototype testing
Focus groups from each clinical specialty work through realistic scenarios with the prototype, and their feedback drives every iteration.
Early 2026
04
Rollout & evaluation
Releasing the tool across the health system, with built-in surveys and follow-up interviews to evaluate how it performs in real-world practice.
2026 –
The Team
A transdisciplinary team spanning implementation science, computer science, and genetic counselling at UTS.
Chief Investigators
Dr Hossai Gul
Project Lead · Chief Investigator
Head of the Implementation Lab, TD School, UTS
Implementation scientist leading the project and the translation of genomics into routine healthcare.
Dr Baki Kocaballi
Chief Investigator
School of Computer Science, UTS
Human–computer interaction researcher leading the design and construction of the digital tool.
Dr Lucinda Freeman
Chief Investigator
Genetic Counselling, Graduate School of Health, UTS
Genetic counsellor and clinician-researcher providing clinical oversight of the testing pathways.
Research Team
Erin Lynch
Research Assistant
TD School, UTS
Supports the project across research activities, participant coordination, and administration.
Odessa Mullin
Research Assistant
TD School, UTS
Master of Genetic Counselling candidate researching and curating the clinical evidence used within the tool.
Shuvam Shrestha
Research Assistant
School of Computer Science, UTS
Designs and builds the Genoguide platform, working with Dr Kocaballi on the digital tool.
Advisors & Partners
The project is guided by a national steering committee of clinical, policy, and consumer experts, with clinical advice from A/Prof Yemima Berman, Dr Mike Field, and A/Prof Jodie Ingles. Steering committee members represent organisations across the Australian genomics ecosystem:
This research is approved by the UTS Human Research Ethics Committee (ETH24-9936) and conducted in accordance with the National Statement on Ethical Conduct in Human Research.
Questions about the research?
Whether you're a clinician, researcher, or health service interested in the project — we'd love to hear from you.