The Mackenzie’s Mission research study closed in 2022.

We thank all participants and healthcare professionals involved in the study, one of the largest of its kind in Australia.

Below, we have shared a list of general outcomes and publications from the study. Documents will continue to be uploaded as they become available.

Outcomes Image

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Design and implementation of Mackenzie’s Mission – The Australian Reproductive Genetic Carrier Screening Project
Alison Archibald, Belinda McClaren, Jade Caruana et al. Journal of Personalized Medicine, 2022.

How should severity be understood in the context of reproductive genetic carrier screening?
Lisa Dive, Alison Archibald, Lucinda Freeman et al. Bioethics, 2023.

Ethically robust reproductive genetic carrier screening needs to measure outcomes that matter to patients
Lisa Dive & Ainsley Newson. European Journal of Human Genetics, 2022.

Ethical aspects of the changing landscape for spinal muscular atrophy management in Australia
Ainsley Newson, Lisa Dive, Julie Cini et al. Australian Journal of General Practice, 2022.

Taking seriousness seriously in genomic health
Ainsley Newson & Lisa Dive. European Journal of Human Genetics, 2021.

Ethical considerations in gene selection for reproductive carrier screening
Lisa Dive, Alison Archibald & Ainsley Newson. Human Genetics, 2021.

Reproductive carrier screening: responding to the eugenics critique
Lisa Dive & Ainsley Newson. Journal of Medical Ethics, 2021.

Ethics of reproductive genetic carrier screening: From the clinic to the population
Lisa Dive & Ainsley Newson. Public Health Ethics, 2021.

Ethical issues in reproductive genetic carrier screening
Lisa Dive & Ainsley Newson. Medical Journal of Australia, 2020.

Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia
Tianjiao Wang, Paul Scuffham, Joshua Byrnes et al. Journal of Neurology, 2022.

Economic evaluation of reproductive carrier screening for recessive genetic conditions: a systematic review
Tianjiao Wang, Mina Bahrampour, Joshua Byrnes et al. Expert Review of Pharmacoeconomics & Outcomes Research, 2021.

The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
Lucinda Freeman, Sarah Righetti, Martin Delatycki et al. Genetics in Medicine, 2022.

Development and use of the Australian reproductive genetic carrier screening decision aid
Emily King, Jane Halliday, Alison Archibald et al. European Journal of Human Genetics, 2021.