Our national diagnostic and research network enables the delivery of genomic testing through our rare disease and cancer flagship studies.
The network is building evidence to inform policy change and working toward consistent national approaches for the clinical delivery of genomics, including those for patient consent, pathology reporting, and gene variant classification.

Leads
Prof John Christodoulou
Murdoch Children’s Research Institute & The University of Melbourne
Prof Nigel Laing
The University of Western Australia and Harry Perkins Institute of Medical Research
Prof Hamish Scott
SA Pathology and the Centre for Cancer Biology
Working Group
A/Prof Chris Barnett
SA Pathology and Women’s & Children’s Hospital
A/Prof Gareth Baynam
Genetic Services of Western Australia
Prof John Beilby
PathWest
Dr Damien Bruno
Victorian Clinical Genetics Services
A/Prof Michael Buckley
SEALS Pathology
David Bunker
Queensland Genomics
Dr Felicity Collins
Royal Prince Alfred
Dr Andrew Fellowes
Peter MacCallum Cancer Centre
Dr Mike Field
Hunter Genetics
Prof Stephen Fox
Peter MacCallum Cancer Centre
A/Prof Andrew Mallett
Royal Brisbane and Women’s Hospital & The University of Queensland
Dr Cas Simons
Murdoch Children’s Research Institute
Prof Adam Jaffe
University of New South Wales & Sydney Children’s Hospital
Prof Chris Semsarian
The University of Sydney & Centenary Institute
Prof David Thorburn
Murdoch Children’s Research Institute
Prof Jozef Gecz
The University of Adelaide
A/Prof Rick Leventer
The Royal Children’s Hospital
A/Prof Tony Roscioli
Sydney Children’s Hospital
Dr Janice Fletcher
SA Pathology
A/Prof Paul James
Melbourne Health
Dr Sarah Kummerfeld
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Prof Julie McGaughran (State Lead)
Genetic Health Queensland
Dr Cliff Meldrum
NSW Health Pathology
Dr Nicholas Pachter
Genetic Services of WA
Dr John Rowell
Pathology Queensland
A/Prof Zornitza Stark
Australian Genomics & Victorian Clinical Genetics Services
Prof Robyn Ward
The University of Sydney
Prof Deborah White
SAHMRI
A/Prof Sue White
Victorian Clinical Genetics Services
Prof Meredith Wilson (State Lead)
Sydney Children’s Hospital Network
Mary-Anne Young (State Lead)
Kinghorn Centre for Clinical Genomics, Garvan Institute
Program One Project Officers
Dr Alessandra Bray (NSW)
Australian Genomics & Sydney Children’s Hospital Network
Keri Finlay (VIC)
Australian Genomics
Denise Howting (WA)
Australian Genomics & Harry Perkins Institute of Medical Research
Matilda Jackson (SA)
Australian Genomics & SA Pathology
Dr Tessa Mattiske (Functional Genomics – National)
Australian Genomics
Dr Kelly Prendergast (NSW)
Australian Genomics & Garvan Institute of Medical Research
Dr Michael Quinn (QLD)
Australian Genomics & Royal Brisbane and Women’s Hospital
Variant classification is a complex process and as we become better at understanding the human genome, we have the opportunity to re-interpret existing variant classifications in light of our new knowledge. As a result, clinical variant classifications evolve. This reclassification of variants is often of great benefit as it can uncover additional diagnoses and improve test accuracy. At the same time it can have significant clinical, ethical and legal consequences. In the absence of guidelines and appropriate technical and financial support, re-classification is currently performed on an ad hoc basis, dependent on local policies and limited resources. We suspect that re-classification occurs more than we think and that we can find better ways to help laboratories and clinics prepare for and deal with the consequences of re-classification.
In order to do this, the Clinical Variant Re-classification project is looking to understand the different approaches used by Australian laboratories to manage variant re-classification and use these experiences to develop consensus recommendations on best practice for variant review, reclassification and notification for all Australian healthcare providers.
Who’s involved?
Lead
Prof Hamish Scott
SA Pathology & Centre for Cancer Biology
Project Coordinator
Dr Sarah King-Smith
Australian Genomics & SA Pathology
Working Group
A/Prof Bruce Bennetts
The Children’s Hospital at Westmead
Tiffany Boughtwood
Australian Genomics
Dr Damien Bruno
Victorian Clinical Genetics Services
Dr Michael Fietz
PathWest
Dr Andrew Fellowes
Peter MacCallum Cancer Centre
Dr Jodie Ingles
Centenary Institute
A/Prof Paul James
Melbourne Health
A/Prof Edwin Kirk
University of New South Wales
Dr Sebastian Lunke
Victorian Clinical Genetics Services
Prof Julie McGaughran
Genetic Health Queensland
Dr Cliff Meldrum
NSW Health Pathology
Dr Nicola Poplawski
SA Pathology
Dr Anne Ronan
Hunter Genetics
Dr John Rowell
Pathology Queensland
Prof Chris Semsarian
Centenary Institute and The University of Sydney
A/Prof Amanda Spurdle
QIMR Berghofer Medical Research Institute
A/Prof Zornitza Stark
Australian Genomics & Victorian Clinical Genetics Services
Emma Tudini
Australian Genomics & QIMR Berghofer Medical Research Institute
Providing the public with clear information during the consent process is essential to support decision-making before and after a genomic test, and is the foundation to legally recognised ‘informed consent’. However in Australia it is left to individual states and territories and the various genetic service providers to administer patient consent, potentially creating inconsistent experiences, outcomes and patient management.
This project was formed in 2017 with the aim to help standardise the consent process for genomic testing across the country. The project team has since collaboratively developed recommendations around clinical genomic consent in Australia, and incorporated these into a national consent form and accompanying supporting information.
The consent materials were piloted with genetic services in Queensland and Victoria in 2019, assessing the adequacy and completeness of the information included, the simplicity and clarity of the language used in the materials, and the degree to which the materials support the consent process for health professionals in the genomics community.
The finalised Australian Genomics consent form and accompanying supporting information are now available and able to be adapted at a local level.
In 2019, the Australian Health Ministers’ Advisory Council Project Reference Group on Health Genomics launched a project led by NSW Ministry of Health to ‘build on existing work to develop and promote nationally consistent templates and guidance for consent’, under Australia’s Health Genomics Policy Framework. Australian Genomics is collaborating with this NSW-led project to share the outcomes of our work, so the learnings of our consultation and pilot can inform this process.
Who’s involved?
Lead
Prof Julie McGaughran
Genetic Health Queensland
Coordinator
Keri Finlay
Australian Genomics
Working Group
Kirsten Boggs
Australian Genomics & Sydney Children’s Hospital Network
Prof Janice Fletcher
SA Pathology
Dr Melanie Galea
Clinpath Laboratories
Dr Debra Graves
The Royal College of Pathologists of Australasia
Norah Grewal
Australian Genomics & The University of Sydney
Dr Matilda Haas
Australian Genomics
Dr Peter Kaub
SA Pathology
Elly Lynch
Melbourne Genomics Health Alliance
Ivan Macciocca
Victorian Clinical Genetics Services
Dr Helen Mar fan
Genetic Health Queensland
Dr Fiona McKenzie
Genetic Services of Western Australia
Prof Ainsley Newson
The University of Sydney
A/Prof Tony Roscioli
NeurRA
Dr Bronwen Ross
The Royal Melbourne Hospital
Prof Meredith Wilson
Sydney Children’s Hospital Network
Mary-Anne Young
Kinghorn Centre for Clinical Genomics, Garvan Institute
The national Medical Services Advisory Committee assesses applications and advises the Australian Government on whether a medical service should receive public funding.
This Australian Genomics project is building capability and experience in channelling submissions through to the Medical Services Advisory Committee to support a pipeline of applications for which there is clinical and economic evidence to support genomic testing.
Our first application through this pipeline sought reimbursement of genomic testing for Childhood Syndromes.
The application was supported by key data from the Melbourne Genomics Childhood Syndromes Study, along with a growing body of international research indicating the clinical utility and cost effectiveness of genomic testing for these conditions.
In its review of this application, the Medical Services Advisory Committee supported a modified version of our application. Subsidised testing to identify the genetic cause of syndromic and non-syndromic intellectual disability has now been listed on Australia’s Medicare Benefits Schedule (MBS).
The Australian Genomics continues to provide input into the review and consultation of other genomic testing applications, including genetic renal, cardiac and muscular disorders. Australian Genomics is now seeking to expand MBS funded genomic testing to include other childhood disorders including Developmental and Epileptic Encephalopathies.
Who’s involved?
Lead
Prof John Christodoulou
Murdoch Children’s Research Institute
Coordinator
Dr Peta Phillips
Australian Genomics
Working Group
A/Prof Chris Barnett
SA Clinical Genetics Service
Prof John Beilby
PathWest
Dr Andrea Belcher
Australian Genomics & The University of Queensland
Tiffany Boughtwood
Australian Genomics
Dr Janice Fletcher
SA Pathology
Dr Melanie Galea
The University of Queensland
Dr Matilda Haas
Australian Genomics
Dr James Harraway
Sullivan Nicolaides Pathology
Prof Nigel Laing
The University of Western Australia & Harry Perkins Institute of Medical Research
Prof Julie McGaughran
Genetic Health Queensland
A/Prof Tony Roscioli
Sydney Children’s Hospital
A/Prof Hamish Scott
SA Pathology & Centre for Cancer Biology
A/Prof Zornitza Stark
Australian Genomics & Victorian Clinical Genetics Services
Prof David Thorburn
Murdoch Children’s Research Institute
A/Prof Sue White
Victorian Clinical Genetics Services
Functional genomics investigates how a variation in a person’s genotype relates to their phenotype often at a molecular or cellular level. The Australian Functional Genomics Network is a platform to strengthen the relationship between clinical teams discovering disease-causing genes in patients with researchers who can investigate the functions of those genes. These collaborations between clinical and scientific teams will help to accelerate the diagnostic process.
Who’s involved?
Leads
Prof Sally Dunwoodie
Victor Chang Cardiac Research Institute
Prof Andrew Sinclair
Murdoch Children’s Research Institute
Project Officer
Dr Tessa Mattiske
Australian Genomics
Working Group
Prof Ian Alexander
Children’s Medical Research Institute
A/Prof Robert Bryson-Richardson
Monash University
Prof Jozef Gecz
The University of Adelaide
A/Prof Kristi Jones
Sydney Children’s Hospitals Network – Children’s Hospital at Westmead
Prof Nigel Laing
The University of Western Australia
Harry Perkins Institute of Medical Research
Dr Kelly Smith
The University of Queensland
Prof Ian Smyth
Monash University
A/Prof Zornitza Stark
Australian Genomics & Victorian Clinical Genetics Services
Prof Patrick Tam
Children’s Medical Research Institute
In collaboration with patient support and advocacy groups, Australian Genomics is developing information materials to help patients and the public navigate the complex world of genomics and genomic testing.
This project includes a new platform – genomicsinfo.org.au – to share curated patient information materials from sources around the world, and material developed through this project.
Who’s involved?
Lead
Richard Vines
Rare Cancers Australia
Coordinator
Keri Finlay
Australian Genomics
Working Group
Tiffany Boughtwood
Australian Genomics
John Cannings
Patient Advocate
Kate Dunlop
Centre for Genetics Education
Shannyn Floyd
Kidney Health Australia
Miranda Lewit-Mendes
Australian Genomics
Heather Renton
SWAN Australia
Bronwyn Terrill
Garvan Institute of Medical Research
A/Prof Zornitza Stark
Australian Genomics & Victorian Clinical Genetics Services
Genomic pathology reports have been traditionally requested by, and written for, genetic specialists. But as genomic testing transitions to mainstream healthcare, the consumers of these reports will expand beyond specialists to non-specialist clinicians and to patients, particularly with the introduction of My Health Record.
In collaboration with a range of stakeholders, this project is developing recommendations relating to content, accessibility and the language of genomic pathology reports in the context of laboratory accreditation restrictions and requirements.
Who’s involved?
Lead
Dr Janice Fletcher
SA Pathology
Coordinator
Dotti Tang
Australian Genomics
Working Group
Kirsten Boggs
Australian Genomics & Sydney Children’s Hospital Network
Dr Lucy Gilkes
The University of Western Australia
Dr Tudor Groza
Garvan Institute of Medical Research
Dr James Harraway
Pathology Queensland
Dr Scott Mead
SEALS Pathology
Dr Cliff Meldrum
NSW Health Pathology
Dr Chirag Patel
Royal Brisbane and Women’s Hospital
Dr David Walsh
Queen Elizabeth Hospital
This new project aims to explore potential barriers (for example, age, geography, language, culture, socioeconomic status or other) to ethical and equitable access to genomic testing across the nation.
It is envisaged this work will touch on the activities and recruitment practices in different states, and catalogue perceptions of unmet genomic testing need. The initial focus of the project will be to undertake semi-structured interviews with representatives from across all Australian clinical genetics services to investigate clinicians’ perceptions of areas of unmet needs.
These interviews will then be analysed and areas for focused investigation will be identified.
Who’s involved?
Lead
Dr Felicity Collins
Royal prince Alfred Hospital
Research Assistant
Molly Krause
Australian Genomics
Working Group
Dr Yemima Berman
Royal North Shore Hospital
Dr Stephanie Best
Macquarie University & Australian Genomics
Dr Jo Burke
Royal Hobart Hospital
Prof Julie McGaughran
Genetic Health Queensland
Dr Lesley McGregor
Fertility SA
A/Prof Nicholas Pachter
Genetic Services of WA
Lindsay Tuer
Victorian Clinical Genetics Services
A/Prof Sue White
Victorian Clinical Genetics Services