国家生殖遗传载体筛选计划的扩大和未来可持续性。

IF 4.7 2区 医学 Q1 GENETICS & HEREDITY NPJ Genomic Medicine Pub Date : 2023-07-31 DOI:10.1038/s41525-023-00357-w
Zoe Fehlberg, Stephanie Best, Janet C Long, Tahlia Theodorou, Catherine Pope, Peter Hibbert, Sharon Williams, Lucinda Freeman, Sarah Righetti, Alison D Archibald, Jeffrey Braithwaite
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引用次数: 0

摘要

了解影响实施的因素对于实现基于人群的生殖遗传载体筛查计划的好处至关重要。本研究的目的是综合在澳大利亚生殖遗传载体筛选项目(Mackenzie’s Mission)期间收集的数据,以跟踪优先级如何随着时间的推移而变化,并确定扩大规模和维持过程中的重要因素。我们使用多方法定性方法整合从10个项目委员会收集的纵向项目数据,并与研究团队成员进行了16次半结构化访谈。使用实施研究统一框架(CFIR)对两个数据集进行分析,以确定早期、中期和未来实施阶段感兴趣的结构。在整个实施过程中存在几个CFIR结构。执行工作的复杂性提出了各种挑战,但通过高质量设计和包装的产品、正式和非正式的网络和通讯以及获得知识和信息的机会,这些挑战都得到了克服。通过资源和增加社区和非遗传专业参与来满足不同消费者的需求仍然是整个和未来可持续发展的优先事项。展望未来,进一步解决项目复杂性和确保资金是重点。通过应用实施框架,本研究的发现可能对未来建立和/或维持生殖遗传载体筛查项目有用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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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 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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来源期刊
NPJ Genomic Medicine
NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
1.90%
发文量
67
审稿时长
17 weeks
期刊介绍: npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.
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