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

Simple item page
dc.contributor.authorArchibald, A.D.
dc.contributor.authorMcClaren, B.J.
dc.contributor.authorCaruana, J.
dc.contributor.authorTutty, E.
dc.contributor.authorKing, E.A.
dc.contributor.authorHalliday, J.L.
dc.contributor.authorBest, S.
dc.contributor.authorKanga-Parabia, A.
dc.contributor.authorBennetts, B.H.
dc.contributor.authorCliffe, C.C.
dc.contributor.authorMadelli, E.O.
dc.contributor.authorHo, G.
dc.contributor.authorLiebelt, J.
dc.contributor.authorLong, J.C.
dc.contributor.authorBraithwaite, J.
dc.contributor.authorKennedy, J.
dc.contributor.authorMassie, J.
dc.contributor.authorEmery, J.D.
dc.contributor.authorMcGaughran, J.
dc.contributor.authorMarum, J.E.
dc.contributor.authoret al.
dc.date.issued2022
dc.descriptionPublished: 28 October 2022
dc.description.abstractReproductive 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.
dc.description.statementofresponsibilityAlison D. Archibald ... Tristan Hardy ... et al. and The Mackenzie’s Mission Study Team
dc.identifier.citationJournal of Personalized Medicine, 2022; 12(11):1781-1-1781-25
dc.identifier.doi10.3390/jpm12111781
dc.identifier.issn2075-4426
dc.identifier.issn2075-4426
dc.identifier.orcidHardy, T. [0000-0002-5878-0340]
dc.identifier.urihttps://hdl.handle.net/2440/138695
dc.language.isoen
dc.publisherMDPI AG
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1113531
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT2000001
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1117510
dc.rights© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
dc.source.urihttps://doi.org/10.3390/jpm12111781
dc.subjectreproductive genetic carrier screening; implementation science; bioethics; health economics; psychosocial outcomes
dc.titleThe Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation
dc.typeJournal article
pubs.publication-statusPublished

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
hdl_138695.pdf
Size:
2.29 MB
Format:
Adobe Portable Document Format
Description:
Published version
Download

Collections

Pathology publications