Scaling-up and future sustainability of a national reproductive genetic carrier screening program.

Fehlberg, Z; Best, S; Long, JC; Theodorou, T; Pope, C; Hibbert, P; Williams, S; Freeman, L; Righetti, S; Archibald, AD; Braithwaite, J

Scaling-up and future sustainability of a national reproductive genetic carrier screening program.

Fehlberg, Z Best, S Long, JC Theodorou, T Pope, C Hibbert, P Williams, S Freeman, L

Righetti, S Archibald, AD Braithwaite, J

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Publisher:: Springer Nature
Publication Type:: Journal Article
Citation:: NPJ Genom Med, 2023, 8, (1), pp. 18
Issue Date:: 2023-07-31

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Field	Value	Language
dc.contributor.author	Fehlberg, Z
dc.contributor.author	Best, S
dc.contributor.author	Long, JC
dc.contributor.author	Theodorou, T
dc.contributor.author	Pope, C
dc.contributor.author	Hibbert, P
dc.contributor.author	Williams, S
dc.contributor.author	Freeman, L https://orcid.org/0000-0002-5814-3894
dc.contributor.author	Righetti, S
dc.contributor.author	Archibald, AD
dc.contributor.author	Braithwaite, J
dc.date.accessioned	2024-01-17T06:12:30Z
dc.date.available	2023-06-01
dc.date.available	2024-01-17T06:12:30Z
dc.date.issued	2023-07-31
dc.identifier.citation	NPJ Genom Med, 2023, 8, (1), pp. 18
dc.identifier.issn	2056-7944
dc.identifier.issn	2056-7944
dc.identifier.uri	http://hdl.handle.net/10453/174709
dc.description.abstract	An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier screening programs. The aim of this study was to synthesise data collected during the Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission) to track how priorities shifted over time and identify important factors during scaling-up and for sustainment. We used a multi-method qualitative approach to integrate longitudinal project data collected from 10 project committees with 16 semi-structured interviews conducted with study team members. Both datasets were analysed using the Consolidated Framework for Implementation Research (CFIR) to identify constructs of interest within early, mid-point, and future implementation phases. Several CFIR constructs were present across implementation. The complexity of implementation presented challenges that were overcome through a quality-designed and packaged product, formal and informal networks and communication, and access to knowledge and information. Addressing the diverse consumer needs through resources and increasing community and non-genetic speciality engagement remained a priority throughout and for future sustainment. Going forward, further addressing program complexities and securing funding were emphasised. By applying an implementation framework, findings from this study may be useful for future effort towards building and/or sustaining reproductive genetic carrier screening programs.
dc.format	Electronic
dc.language	eng
dc.publisher	Springer Nature
dc.relation.ispartof	NPJ Genom Med
dc.relation.isbasedon	10.1038/s41525-023-00357-w
dc.rights	info:eu-repo/semantics/openAccess
dc.subject.classification	3105 Genetics
dc.subject.classification	3206 Medical biotechnology
dc.title	Scaling-up and future sustainability of a national reproductive genetic carrier screening program.
dc.type	Journal Article
utslib.citation.volume	8
utslib.location.activity	England
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
utslib.copyright.status	open_access	*
dc.date.updated	2024-01-17T06:12:28Z
pubs.issue	1
pubs.publication-status	Published online
pubs.volume	8
utslib.citation.issue	1

Abstract:

An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier screening programs. The aim of this study was to synthesise data collected during the Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission) to track how priorities shifted over time and identify important factors during scaling-up and for sustainment. We used a multi-method qualitative approach to integrate longitudinal project data collected from 10 project committees with 16 semi-structured interviews conducted with study team members. Both datasets were analysed using the Consolidated Framework for Implementation Research (CFIR) to identify constructs of interest within early, mid-point, and future implementation phases. Several CFIR constructs were present across implementation. The complexity of implementation presented challenges that were overcome through a quality-designed and packaged product, formal and informal networks and communication, and access to knowledge and information. Addressing the diverse consumer needs through resources and increasing community and non-genetic speciality engagement remained a priority throughout and for future sustainment. Going forward, further addressing program complexities and securing funding were emphasised. By applying an implementation framework, findings from this study may be useful for future effort towards building and/or sustaining reproductive genetic carrier screening programs.

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http://hdl.handle.net/10453/174709