NATIONAL STEERING COMMITTEE
The National Steering Committee was responsible for providing strategic guidance and overall management of the study. The Committee was comprised of the Co-Leads of the study, the Lead and Manager of Australian Genomics, and the mother of Mackenzie, who the study is named after. The Committee met quarterly to review the progress of the study.
COMMITTEE MEMBERS
Prof Nigel Laing (CHAIR)
Co-Lead
Mackenzie’s Mission
Tiffany Boughtwood
Manager
Australian Genomics
Rachael Casella
Patient advocate and parent of Mackenzie
Prof Martin Delatycki
Co-Lead
Mackenzie’s Mission
Prof Edwin Kirk
Co-Lead
Mackenzie’s Mission
Prof Kathryn North
Lead
Australian Genomics
INTERNATIONAL ADVISORY GROUP
The International Advisory Group was comprised of six international experts across the disciplines of reproductive genetic carrier screening, genomic medicine and bioethics. The Group worked with the Co-Leads of Mackenzie’s Mission to advise on the strategic direction, research activities and operations of the study.
COMMITTEE MEMBERS
Prof Wayne Grody (CHAIR)
The University of California, Los Angeles
United States of America
Prof Fowzan Alkuraya (DEPUTY CHAIR)
King Faisal Specialist Hospital & Research Centre
Saudi Arabia
Prof Martina Cornel
VU University Medical Centre Amsterdam
The Netherlands
Prof Anneke Lucassen
The University of Southampton
United Kingdom
Prof Irene van Langen
The University of Groningen
The Netherlands
Prof Joel Zlotogora
The Hebrew University of Jerusalem
Israel
COMMUNITY ADVISORY GROUP
The Community Advisory Group was comprised of the well-established Australian Genomics Community Advisory Group, with the addition of two Mackenzie’s Mission representatives. The Group brought together experienced patient advocates who advised on the design and language of participant consent forms and surveys, digital health and data management strategy, and ethical, legal and social analyses of genomics.
COMMITTEE MEMBERS
Richard Vines (CHAIR)
Rare Cancers Australia
Jessica Bean
Patient advocate
John Cannings OAM
Patient advocate
Rachael Casella (MACKENZIE’S MISSION REPRESENTATIVE)
Patient advocate and parent of Mackenzie
Danielle D’Souza (MACKENZIE’S MISSION REPRESENTATIVE)
Community representative
Prof Martin Delatycki
Victorian Clinical Genetics Services
Alison McEwan
University of Technology Sydney
Sean Murray
Mito Foundation
Kathy Wells
Breast Cancer Network Australia
INDIGENOUS ADVISORY GROUP
The Indigenous Advisory Group was established to provide cultural advice to the Mackenzie’s Mission project about reproductive genetic carrier screening outcomes, psychosocial impacts, ethical issues, and possible barriers to successful uptake and health economic implications of the program. The Indigenous Advisory Group provided links to networks across Australia to assist Mackenzie’s Mission to achieve its aims in the interests of Indigenous Australians.
COMMITTEE MEMBERS
Professor Tom Calma AO (CHAIR)
University of Canberra
Professor Alex Brown
South Australian Health and Medical Research Institute
Azure Hermes
National Centre for Indigenous Genomics
Greg Pratt
QIMR Berghofer Medical Research Institute
EX OFFICIO MEMBERS
Tiffany Boughtwood
Australian Genomics
Professor Martin Delatyki
Victorian Clinical Genetics Services
Adjunct Associate Professor Kylie Gwynne
Poche Centre for Indigenous Health
SECRETARIAT
Jemma Chao
Poche Centre for Indigenous Health
RESEARCH COMMITTEE
The Mackenzie’s Mission research program included four key streams: Psychosocial and Epidemiology, Implementation Science, Bioethics and Health Economics. The Research Committee was comprised of leads from each of these research streams.
COMMITTEE MEMBERS
Prof Martin Delatycki (CHAIR)
Lead: Psychosocial & Epidemiology Research Stream
Murdoch Children’s Research Institute
Prof Jeffrey Braithwaite
Lead: Implementation Science Research Stream
Macquarie University
Prof Jane Halliday
Murdoch Children’s Research Institute
Prof Edwin Kirk
The University of New South Wales
Prof Nigel Laing
Harry Perkins Institute of Medical Research
Prof Ainsley Newson
Lead: Bioethics Research Stream
The University of Sydney
Prof Paul Scuffham
Lead: Health Economics Research Stream
Griffith University
CLINICAL COMMITTEE
The Clinical Committee worked with the study’s genetic counsellors to develop participant consent forms, monitor recruitment of healthcare providers and participants, and oversee the clinical management of participants who had genetic carrier screening through the study. The Committee was made up of clinical leads from each state and territory.
COMMITTEE MEMBERS
Prof Edwin Kirk (CO-CHAIR)
Sydney Children’s Hospital
Prof Martin Delatycki (CO-CHAIR)
Victorian Clinical Genetics Services
Dr Michelle Farrar
Sydney Children’s Hospital
Prof Nigel Laing
Harry Perkins Institute of Medical Research
Dr Jan Liebelt
South Australian Clinical Genetics Service
Prof Julie McGaughran
Genetic Health Queensland
A/Prof Nicholas Pachter
Genetic Services of Western Australia
Prof Stephen Robson
Canberra Hospital
A/Prof Tony Roscioli
Sydney Children’s Hospital
Dr Mathew Wallis
Tasmanian Clinical Genetics Service
LABORATORY COMMITTEE
The Laboratory Committee was responsible for the development and delivery of the genetic testing required for the study’s reproductive genetic carrier screening program. The Committee was comprised of laboratory heads, genetic pathologists, medical scientists and technical assistants at the three laboratories providing genetic testing for the study: NSW Health Pathology (NSW), PathWest Laboratory Medicine (WA) and Victorian Clinical Genetics Services (VIC).
COMMITTEE MEMBERS
Prof Edwin Kirk (CHAIR)
NSW Health Pathology
A/Prof Richard Allcock
PathWest Laboratory Medicine
Dr Alison Archibald
Victorian Clinical Genetics Services
Melissa Chow
Victorian Clinical Genetics Services
Corrina Cliffe
NSW Health Pathology
Dr Mark Davis
PathWest Laboratory Medicine
Dr Stefanie Eggers
Murdoch Children’s Research Institute
Prof Nigel Laing
Harry Perkins Institute of Medical Research
Dr Sebastian Lunke
Victorian Clinical Genetics Services
Dr Justine Marum
Victorian Clinical Genetics Services
Dr Mark Pertile
Victorian Clinical Genetics Services
Dr Samantha Sundercombe
NSW Health Pathology
RECRUITMENT COMMITTEE
The Recruitment Committee worked with the study’s Operational Team to develop strategies and plans for the recruitment of healthcare providers and participants into the study. The Committee was made up of genetic healthcare providers with expertise in recruitment for genetic carrier screening studies and programs.
COMMITTEE MEMBERS
Prof Martin Delatycki (CHAIR)
Victorian Clinical Genetics Services
Dr Alison Archibald
Victorian Clinical Genetics Services
A/Prof Kristine Barlow-Stewart
The University of New South Wales
Prof Leslie Burnett
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Prof Jon Emery
The University of Melbourne
Prof Edwin Kirk
Sydney Children’s Hospital
Prof Nigel Laing
Harry Perkins Institute of Medical Research
A/Prof Nicholas Pachter
Genetic Services of Western Australia
Prof Sue Walker
Mercy Hospital for Women
EDUCATION & ENGAGEMENT COMMITTEE
The Education and Engagement Committee worked with the study’s genetic counsellors to develop education materials for healthcare providers and participants who took part in the study. Committee members included medical educators, general practitioners, clinical geneticists, genetic counsellors and a community representative.
COMMITTEE MEMBERS
A/Prof Kristine Barlow-Stewart (CHAIR)
The University of New South Wales
Dr Alison Archibald
Victorian Clinical Genetics Services
A/Prof Clara Gaff
Melbourne Genomics
Prof Edwin Kirk
Sydney Children’s Hospital
Prof Jane Halliday
Murdoch Children’s Research Institute
Prof Jon Emery
The University of Melbourne
Kate Dunlop
Centre for Genetics Education, NSW Health
Lucinda Freeman
The University of New South Wales
Dr Lucy Gilkes
The University of Western Australia
Prof Martin Delatycki
Victorian Clinical Genetics Services
Prof Nigel Laing
Harry Perkins Institute of Medical Research
Rachael Casella
Patient advocate and parent of Mackenzie
Dr Simon Morgan
GP Training Valley to Coast
GENE SELECTION COMMITTEE
The Gene Selection Committee carried out a comprehensive evaluation of genes relevant to reproductive genetic carrier screening, and developed the list of genes and genetic conditions to be screened through the study. The Committee is comprised of clinical geneticists, a genetic pathologist, a medical scientist, a genetic counsellor, an obstetrician, an ethicist and a parent of a child with a genetic condition.
COMMITTEE MEMBERS
Prof Edwin Kirk (CHAIR)
NSW Health Pathology
Dr Alison Archibald
Victorian Clinical Genetics Services
Rachael Casella
Patient advocate and parent of Mackenzie
Dr Mark Davis
PathWest Laboratory Medicine
Prof Martin Delatycki
Victorian Clinical Genetics Services
Dr Tristan Hardy
Women’s and Children’s Hospital
Prof Nigel Laing
Harry Perkins Institute of Medical Research
Prof Julie McGaughran
Genetic Health Queensland
Prof Ainsley Newson
The University of Sydney
