Journal of Personalized Medicine (Oct 2022)
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation
- Alison D. Archibald,
- Belinda J. McClaren,
- Jade Caruana,
- Erin Tutty,
- Emily A. King,
- Jane L. Halliday,
- Stephanie Best,
- Anaita Kanga-Parabia,
- Bruce H. Bennetts,
- Corrina C. Cliffe,
- Evanthia O. Madelli,
- Gladys Ho,
- Jan Liebelt,
- Janet C. Long,
- Jeffrey Braithwaite,
- Jillian Kennedy,
- John Massie,
- Jon D. Emery,
- Julie McGaughran,
- Justine E. Marum,
- Kirsten Boggs,
- Kristine Barlow-Stewart,
- Leslie Burnett,
- Lisa Dive,
- Lucinda Freeman,
- Mark R. Davis,
- Martin J. Downes,
- Mathew Wallis,
- Monica M. Ferrie,
- Nicholas Pachter,
- Paul A. Scuffham,
- Rachael Casella,
- Richard J. N. Allcock,
- Royston Ong,
- Samantha Edwards,
- Sarah Righetti,
- Sebastian Lunke,
- Sharon Lewis,
- Susan P. Walker,
- Tiffany F. Boughtwood,
- Tristan Hardy,
- Ainsley J. Newson,
- Edwin P. Kirk,
- Nigel G. Laing,
- Martin B. Delatycki,
- The Mackenzie’s Mission Study Team
Affiliations
- Alison D. Archibald
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- Belinda J. McClaren
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Jade Caruana
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Erin Tutty
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Emily A. King
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Jane L. Halliday
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Stephanie Best
- Australian Genomics, Parkville, VIC 3052, Australia
- Anaita Kanga-Parabia
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- Bruce H. Bennetts
- Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
- Corrina C. Cliffe
- NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW 2031, Australia
- Evanthia O. Madelli
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Gladys Ho
- Sydney Genome Diagnostics, The Children’s Hospital at Westmead, Westmead, NSW 2145, Australia
- Jan Liebelt
- South Australian Clinical Genetics Service, North Adelaide, SA 5006, Australia
- Janet C. Long
- Australian Institute of Health Innovation, Macquarie University, North Ryde, NSW 2109, Australia
- Jeffrey Braithwaite
- Australian Genomics, Parkville, VIC 3052, Australia
- Jillian Kennedy
- Genetic Services of Western Australia, Subiaco, WA 6008, Australia
- John Massie
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Jon D. Emery
- Department of General Practice and Centre for Cancer Research, University of Melbourne, Melbourne, VIC 3000, Australia
- Julie McGaughran
- Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, QLD 4006, Australia
- Justine E. Marum
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- Kirsten Boggs
- Australian Genomics, Parkville, VIC 3052, Australia
- Kristine Barlow-Stewart
- Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW 2065, Australia
- Leslie Burnett
- Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW 2065, Australia
- Lisa Dive
- Graduate School of Health, University of Technology Sydney, Ultimo, NSW 2007, Australia
- Lucinda Freeman
- Graduate School of Health, University of Technology Sydney, Ultimo, NSW 2007, Australia
- Mark R. Davis
- Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia
- Martin J. Downes
- Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia
- Mathew Wallis
- Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS 7000, Australia
- Monica M. Ferrie
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- Nicholas Pachter
- Genetic Services of Western Australia, Subiaco, WA 6008, Australia
- Paul A. Scuffham
- Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia
- Rachael Casella
- Independent Researcher
- Richard J. N. Allcock
- Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia
- Royston Ong
- Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia
- Samantha Edwards
- Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia
- Sarah Righetti
- Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, NSW 2031, Australia
- Sebastian Lunke
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- Sharon Lewis
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Susan P. Walker
- Mercy Perinatal, Mercy Hospital for Women, Heidelberg, VIC 3084, Australia
- Tiffany F. Boughtwood
- Murdoch Children’s Research Institute, Parkville, VIC 3052, Australia
- Tristan Hardy
- Monash IVF Group, Richmond, VIC 3121, Australia
- Ainsley J. Newson
- Australian Genomics, Parkville, VIC 3052, Australia
- Edwin P. Kirk
- NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW 2031, Australia
- Nigel G. Laing
- Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia
- Martin B. Delatycki
- Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia
- The Mackenzie’s Mission Study Team
- DOI
- https://doi.org/10.3390/jpm12111781
- Journal volume & issue
-
Vol. 12,
no. 11
p. 1781
Abstract
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
Keywords
- reproductive genetic carrier screening
- implementation science
- bioethics
- health economics
- psychosocial outcomes
