The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Alison D Archibald^{1

2

3}, Belinda J McClaren^{2

3}, Jade Caruana^{2

4}, Erin Tutty², Emily A King^{2

3

5}, Jane L Halliday^{2

3}, Stephanie Best^{4

6

7

8}, Anaita Kanga-Parabia^{1

2

3}, Bruce H Bennetts^{9

10}, Corrina C Cliffe¹¹, Evanthia O Madelli^{2

4}, Gladys Ho^{9

10}, Jan Liebelt^{12

13

14}, Janet C Long¹⁵, Jeffrey Braithwaite^{4

15

16}, Jillian Kennedy¹⁷, John Massie^{2

3

18}, Jon D Emery¹⁹, Julie McGaughran^{20

21}, Justine E Marum¹, Kirsten Boggs^{4

22

23}, Kristine Barlow-Stewart^{24

25}, Leslie Burnett^{24

26

27

28}, Lisa Dive^{29

30}, Lucinda Freeman^{29

31}, Mark R Davis^{32

33}, Martin J Downes^{34

35}, Mathew Wallis^{36

37}, Monica M Ferrie^{1

38}, Nicholas Pachter^{17

39

40}, Paul A Scuffham^{34

35}, Rachael Casella⁴¹, Richard J N Allcock^{32

42}, Royston Ong⁴³, Samantha Edwards⁴³, Sarah Righetti^{22

31}, Sebastian Lunke^{1

44}, Sharon Lewis^{2

3}, Susan P Walker^{45

46}, Tiffany F Boughtwood^{2

4}, Tristan Hardy^{47

48}, Ainsley J Newson^{4

30}, Edwin P Kirk^{11

22

31}, Nigel G Laing^{32

33

43}, Martin B Delatycki^{1

3

5}, The Mackenzie's Mission Study Team

Affiliations

¹ Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia.
² Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
³ Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.
⁴ Australian Genomics, Parkville, VIC 3052, Australia.
⁵ Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
⁶ Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.
⁷ Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
⁸ Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3000, Australia.
⁹ Sydney Genome Diagnostics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
¹⁰ Specialty of Genomic Medicine, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Westmead, NSW 2145, Australia.
¹¹ NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW 2031, Australia.
¹² South Australian Clinical Genetics Service, North Adelaide, SA 5006, Australia.
¹³ Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
¹⁴ Repromed, Dulwich, SA 5065, Australia.
¹⁵ Australian Institute of Health Innovation, Macquarie University, North Ryde, NSW 2109, Australia.
¹⁶ International Society for Quality in Health Care, D02 YY23 Dublin, Ireland.
¹⁷ Genetic Services of Western Australia, Subiaco, WA 6008, Australia.
¹⁸ Department of Respiratory Medicine, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
¹⁹ Department of General Practice and Centre for Cancer Research, University of Melbourne, Melbourne, VIC 3000, Australia.
²⁰ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4006, Australia.
²¹ School of Medicine, University of Queensland, St Lucia, QLD 4072, Australia.
²² Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
²³ Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
²⁴ Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW 2065, Australia.
²⁵ Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2052, Australia.
²⁶ Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
²⁷ St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia.
²⁸ Invitae Australia, Alexandria, NSW 2015, Australia.
²⁹ Graduate School of Health, University of Technology Sydney, Ultimo, NSW 2007, Australia.
³⁰ Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW 2006, Australia.
³¹ School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia.
³² Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
³³ Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
³⁴ Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia.
³⁵ Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, QLD 4111, Australia.
³⁶ Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS 7000, Australia.
³⁷ School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7000, Australia.
³⁸ Genetic Support Network of Victoria, Parkville, VIC 3052, Australia.
³⁹ King Edward Memorial Hospital, Subiaco, WA 6008, Australia.
⁴⁰ Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA 6009, Australia.
⁴¹ Independent Researcher.
⁴² School of Biomedical Sciences, University of Western Australia, Perth, WA 6009, Australia.
⁴³ Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
⁴⁴ Department of Pathology, University of Melbourne, Melbourne, VIC 3000, Australia.
⁴⁵ Mercy Perinatal, Mercy Hospital for Women, Heidelberg, VIC 3084, Australia.
⁴⁶ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC 3010, Australia.
⁴⁷ Monash IVF Group, Richmond, VIC 3121, Australia.
⁴⁸ SA Pathology, Adelaide, SA 5000, Australia.

PMID: 36579509
PMCID: PMC9698511
DOI: 10.3390/jpm12111781

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Alison D Archibald et al. J Pers Med. 2022.

. 2022 Oct 28;12(11):1781.

doi: 10.3390/jpm12111781.

Authors

Affiliations

¹ Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia.
² Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
³ Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.
⁴ Australian Genomics, Parkville, VIC 3052, Australia.
⁵ Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
⁶ Peter MacCallum Cancer Centre, Melbourne, VIC 3000, Australia.
⁷ Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
⁸ Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3000, Australia.
⁹ Sydney Genome Diagnostics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
¹⁰ Specialty of Genomic Medicine, The Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Westmead, NSW 2145, Australia.
¹¹ NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW 2031, Australia.
¹² South Australian Clinical Genetics Service, North Adelaide, SA 5006, Australia.
¹³ Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
¹⁴ Repromed, Dulwich, SA 5065, Australia.
¹⁵ Australian Institute of Health Innovation, Macquarie University, North Ryde, NSW 2109, Australia.
¹⁶ International Society for Quality in Health Care, D02 YY23 Dublin, Ireland.
¹⁷ Genetic Services of Western Australia, Subiaco, WA 6008, Australia.
¹⁸ Department of Respiratory Medicine, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
¹⁹ Department of General Practice and Centre for Cancer Research, University of Melbourne, Melbourne, VIC 3000, Australia.
²⁰ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, QLD 4006, Australia.
²¹ School of Medicine, University of Queensland, St Lucia, QLD 4072, Australia.
²² Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW 2031, Australia.
²³ Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
²⁴ Northern Clinical School, Faculty of Medicine and Health, University of Sydney, St Leonards, NSW 2065, Australia.
²⁵ Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2052, Australia.
²⁶ Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
²⁷ St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW 2010, Australia.
²⁸ Invitae Australia, Alexandria, NSW 2015, Australia.
²⁹ Graduate School of Health, University of Technology Sydney, Ultimo, NSW 2007, Australia.
³⁰ Sydney Health Ethics, Sydney School of Public Health, Faculty of Medicine and Health, University of Sydney, Camperdown, NSW 2006, Australia.
³¹ School of Women's and Children's Health, University of New South Wales, Randwick, NSW 2031, Australia.
³² Department of Diagnostic Genomics, PathWest Laboratory Medicine, Nedlands, WA 6009, Australia.
³³ Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
³⁴ Menzies Health Institute Queensland, Griffith University, Gold Coast, QLD 4222, Australia.
³⁵ Centre for Applied Health Economics, School of Medicine and Dentistry, Griffith University, Nathan, QLD 4111, Australia.
³⁶ Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS 7000, Australia.
³⁷ School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7000, Australia.
³⁸ Genetic Support Network of Victoria, Parkville, VIC 3052, Australia.
³⁹ King Edward Memorial Hospital, Subiaco, WA 6008, Australia.
⁴⁰ Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA 6009, Australia.
⁴¹ Independent Researcher.
⁴² School of Biomedical Sciences, University of Western Australia, Perth, WA 6009, Australia.
⁴³ Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.
⁴⁴ Department of Pathology, University of Melbourne, Melbourne, VIC 3000, Australia.
⁴⁵ Mercy Perinatal, Mercy Hospital for Women, Heidelberg, VIC 3084, Australia.
⁴⁶ Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, VIC 3010, Australia.
⁴⁷ Monash IVF Group, Richmond, VIC 3121, Australia.
⁴⁸ SA Pathology, Adelaide, SA 5000, Australia.

PMID: 36579509
PMCID: PMC9698511
DOI: 10.3390/jpm12111781

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: bioethics; health economics; implementation science; psychosocial outcomes; reproductive genetic carrier screening.

PubMed Disclaimer

Conflict of interest statement

Alison D. Archibald, Martin B. Delatycki, Anaita Kanga-Parabia, Sebastian Lunke and Justine E. Marum are employed by Victorian Clinical Genetics Services, a not-for-profit RGCS provider. Edwin P. Kirk is employed by NSW Health Pathology, who provide RGCS on a fee-for-service basis, and Genea, a fertility company that refers patients for RGCS. Corrina C. Cliffe is also an employee of NSW Health Pathology. Tristan Hardy is employed by Monash IVF Group, who provide RGCS on a fee-for-service basis. Leslie Burnett did not have any competing interests at the time of his contribution to the MM study, but is now employed by Invitae Australia, who provide RGCS on a fee-for-service basis.

Figures

**Figure 2**
Mackenzie’s Mission’s study design showing the implementation phases.

**Figure 1**
Mackenzie’s Mission’s governance structure.

**Figure 3**
Data collection timepoints for people offered reproductive genetic carrier screening in the Mackenzie’s Mission study.

**Figure 4**
Laboratory testing and management of results in the Mackenzie’s Mission study.

See this image and copyright information in PMC

References

1. Delatycki M.B., Laing N., Moore S., Emery J., Archibald A.D., Massie J., Kirk E. Preconception and antenatal carrier screening for genetic conditions: ‘The critical role of general practitioners’. Aust. J. Gen. Pract. 2019;48:106–110. doi: 10.31128/AJGP-10-18-4725. - DOI - PubMed
1. Delatycki M.B., Alkuraya F., Archibald A.D., Castellani C., Cornel M., Grody W.W., Henneman L., Ioannides A.S., Kirk E., Laing N., et al. International perspectives on the implementation of reproductive carrier screening. Prenat. Diagn. 2020;40:301–310. doi: 10.1002/pd.5611. - DOI - PubMed
1. Beauchamp K.A., Johansen Taber K.A., Muzzey D. Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen. Genet. Med. 2019;21:1948–1957. doi: 10.1038/s41436-019-0455-8. - DOI - PMC - PubMed
1. Ropers H.H. On the future of genetic risk assessment. J. Community Genet. 2012;3:229–236. doi: 10.1007/s12687-012-0092-2. - DOI - PMC - PubMed
1. Dive L., Newson A.J. Ethics of reproductive genetic carrier screening: From the clinic to the population. Public Health Ethics. 2021;14:202–217. doi: 10.1093/phe/phab017. - DOI - PMC - PubMed

Grants and funding

GHFM73390/Australian Government

LinkOut - more resources

Full Text Sources

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Affiliations

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Grants and funding

LinkOut - more resources

Full Text Sources