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

• Published in: Journal of personalized medicine Vol. 12; no. 11; p. 1781
• Main Authors: Archibald, Alison D, McClaren, Belinda J, Caruana, Jade, Tutty, Erin, King, Emily A, Halliday, Jane L, Best, Stephanie, Kanga-Parabia, Anaita, Bennetts, Bruce H, Cliffe, Corrina C, Madelli, Evanthia O, Ho, Gladys, Liebelt, Jan, Long, Janet C, Braithwaite, Jeffrey, Kennedy, Jillian, Massie, John, Emery, Jon D, McGaughran, Julie, Marum, Justine E, Boggs, Kirsten, Barlow-Stewart, Kristine, Burnett, Leslie, Dive, Lisa, Freeman, Lucinda, Davis, Mark R, Downes, Martin J, Wallis, Mathew, Ferrie, Monica M, Pachter, Nicholas, Scuffham, Paul A, Casella, Rachael, Allcock, Richard J N, Ong, Royston, Edwards, Samantha, Righetti, Sarah, Lunke, Sebastian, Lewis, Sharon, Walker, Susan P, Boughtwood, Tiffany F, Hardy, Tristan, Newson, Ainsley J, Kirk, Edwin P, Laing, Nigel G, Delatycki, Martin B, The Mackenzie's Mission Study Team
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 28-10-2022; MDPI
• Subjects: Atrophy; Bioethics; Children; Decision making; Epidemiology; Ethnicity; Executives; Families & family life; Fertility; Genetic counseling; Genetic screening; Genetic testing; Genomics; Health care; Health economics; Laboratories; Medical personnel; Native peoples; Parents & parenting; Precision medicine; Pregnancy; Professional ethics; Professionals; Severe acute respiratory syndrome coronavirus 2; Study Protocol; Australasia; Torres Strait; reproductive genetic carrier screening; psychosocial outcomes; bioethics; health economics; implementation science
• ISSN: 2075-4426; 2075-4426
• DOI: 10.3390/jpm12111781

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.