A National Diagnostic and Research Network

Program 1 – A National Diagnostic and Research Network

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

Our Projects

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’.

This project aims to standardise the consent process for genomic testing across the country. The project has collaboratively developed recommendations around clinical genomic consent in Australia, and incorporated these into a national consent form and suite of supporting information. The consent materials are currently being piloted with genetic services in Queensland and Victoria. The national consent form and supporting information are being evaluated to determine 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 group is also collaborating closely with the NSW Ministry of Health, who are leading the Project Reference Group in Health Genomics National Consent Committee, under the Australian Government’s National Health Genomics Policy Framework.

See more about national consent.

Who’s involved?

Lead

A/Prof Julie McGaughran
Genetic Health Queensland

Coordinator

Keri Finlay
Australian Genomics

Working Group

Kirsten Boggs
Australian Genomics & Sydney Children’s Hospital Network

Dr Janice Fletcher
SA Pathology

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

Dr Helen Mar fan
Genetic Health Queensland

Dr Fiona McKenzie
Genetic Services of Western Australia

A/Prof Ainsley Newson
The University of Sydney

A/Prof Tony Roscioli
Sydney Children’s Hospital

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 seeks reimbursement of whole exome analysis for Childhood Syndromes. This application is based on data from a successful pilot study led by Melbourne Genomics Health Alliance, which investigated the clinical effectiveness and cost-efficiencies of genomic testing as an early diagnostic test for Childhood Syndromes. In its review of this application, the Medical Services Advisory Committee has recommended the Australian Government fund whole exome analysis for Childhood Syndromes.

The Australian Genomics working group is now forming a second application, seeking subsidised genomic testing for 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 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

Dr 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.

See more about the Australian Functional Genomics Network

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.

Find these resources at genomicsinfo.org.au

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