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

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 Mi...

Full description

Bibliographic Details
Main Authors: Fehlberg, Z, Best, S, Long, JC, Theodorou, T, Pope, C, Hibbert, P, Williams, S, Freeman, L, Righetti, S, Archibald, AD, Braithwaite, J
Format: Journal article
Language:English
Published: Springer Nature 2023
Subjects:
_version_ 1797110516777222144
author Fehlberg, Z
Best, S
Long, JC
Theodorou, T
Pope, C
Hibbert, P
Williams, S
Freeman, L
Righetti, S
Archibald, AD
Braithwaite, J
author_facet Fehlberg, Z
Best, S
Long, JC
Theodorou, T
Pope, C
Hibbert, P
Williams, S
Freeman, L
Righetti, S
Archibald, AD
Braithwaite, J
author_sort Fehlberg, Z
collection OXFORD
description 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.
first_indexed 2024-03-07T07:55:57Z
format Journal article
id oxford-uuid:601d5871-7ae6-49ff-8ca2-ee4759a3c1e1
institution University of Oxford
language English
last_indexed 2024-03-07T07:55:57Z
publishDate 2023
publisher Springer Nature
record_format dspace
spelling oxford-uuid:601d5871-7ae6-49ff-8ca2-ee4759a3c1e12023-08-22T14:23:14ZScaling-up and future sustainability of a national reproductive genetic carrier screening programJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:601d5871-7ae6-49ff-8ca2-ee4759a3c1e1Population screeningGenetics researchEnglishSymplectic ElementsSpringer Nature2023Fehlberg, ZBest, SLong, JCTheodorou, TPope, CHibbert, PWilliams, SFreeman, LRighetti, SArchibald, ADBraithwaite, JAn 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.
spellingShingle Population screening
Genetics research
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
title Scaling-up and future sustainability of a national reproductive genetic carrier screening program
title_full Scaling-up and future sustainability of a national reproductive genetic carrier screening program
title_fullStr Scaling-up and future sustainability of a national reproductive genetic carrier screening program
title_full_unstemmed Scaling-up and future sustainability of a national reproductive genetic carrier screening program
title_short Scaling-up and future sustainability of a national reproductive genetic carrier screening program
title_sort scaling up and future sustainability of a national reproductive genetic carrier screening program
topic Population screening
Genetics research
work_keys_str_mv AT fehlbergz scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT bests scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT longjc scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT theodorout scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT popec scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT hibbertp scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT williamss scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT freemanl scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT righettis scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT archibaldad scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram
AT braithwaitej scalingupandfuturesustainabilityofanationalreproductivegeneticcarrierscreeningprogram