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

Zoe Fehlberg Orcid Logo, Stephanie Best Orcid Logo, Janet C. Long, Tahlia Theodorou, Catherine Pope, Peter Hibbert, Sharon Williams Orcid Logo, Lucinda Freeman, Sarah Righetti, Alison D. Archibald, Jeffrey Braithwaite

npj Genomic Medicine, Volume: 8, Issue: 1

Swansea University Author: Sharon Williams Orcid Logo

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DOI (Published version): 10.1038/s41525-023-00357-w

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 Mi...

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Published in: npj Genomic Medicine
ISSN: 2056-7944
Published: Springer Science and Business Media LLC 2023
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URI: https://cronfa.swan.ac.uk/Record/cronfa63372
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spelling v2 63372 2023-05-09 Scaling-up and future sustainability of a national reproductive genetic carrier screening program ab46582012179a28370922a05774d3e3 0000-0001-5377-7401 Sharon Williams Sharon Williams true false 2023-05-09 PHAC 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. Journal Article npj Genomic Medicine 8 1 Springer Science and Business Media LLC 2056-7944 Genetics Research, Population Screening 1 8 2023 2023-08-01 10.1038/s41525-023-00357-w http://dx.doi.org/10.1038/s41525-023-00357-w COLLEGE NANME Public Health COLLEGE CODE PHAC Swansea University Another institution paid the OA fee The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission (GHFM) Grant GHFM73390 (MRFF-G-Mackenzie’s Mission). 2023-09-07T16:45:52.0303612 2023-05-09T12:39:52.2764623 Faculty of Medicine, Health and Life Sciences School of Health and Social Care - Public Health Zoe Fehlberg 0000-0002-8449-206x 1 Stephanie Best 0000-0002-1107-8976 2 Janet C. Long 3 Tahlia Theodorou 4 Catherine Pope 5 Peter Hibbert 6 Sharon Williams 0000-0001-5377-7401 7 Lucinda Freeman 8 Sarah Righetti 9 Alison D. Archibald 10 Jeffrey Braithwaite 11 63372__28430__895d6fe35a63431baebb7f1bdcf00c8d.pdf 63372 VoR.pdf 2023-09-04T11:04:24.9086845 Output 603876 application/pdf Version of Record true Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. true eng http://creativecommons.org/licenses/by/4.0/.
title Scaling-up and future sustainability of a national reproductive genetic carrier screening program
spellingShingle Scaling-up and future sustainability of a national reproductive genetic carrier screening program
Sharon Williams
title_short 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_sort Scaling-up and future sustainability of a national reproductive genetic carrier screening program
author_id_str_mv ab46582012179a28370922a05774d3e3
author_id_fullname_str_mv ab46582012179a28370922a05774d3e3_***_Sharon Williams
author Sharon Williams
author2 Zoe Fehlberg
Stephanie Best
Janet C. Long
Tahlia Theodorou
Catherine Pope
Peter Hibbert
Sharon Williams
Lucinda Freeman
Sarah Righetti
Alison D. Archibald
Jeffrey Braithwaite
format Journal article
container_title npj Genomic Medicine
container_volume 8
container_issue 1
publishDate 2023
institution Swansea University
issn 2056-7944
doi_str_mv 10.1038/s41525-023-00357-w
publisher Springer Science and Business Media LLC
college_str Faculty of Medicine, Health and Life Sciences
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hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str School of Health and Social Care - Public Health{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}School of Health and Social Care - Public Health
url http://dx.doi.org/10.1038/s41525-023-00357-w
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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.
published_date 2023-08-01T16:45:53Z
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