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.

了解影响实施的因素对于实现基于人群的生殖遗传携带者筛查计划的好处至关重要。本研究的目的是综合澳大利亚生殖遗传携带者筛查项目（麦肯齐使命）期间收集的数据，以跟踪优先事项如何随时间变化，并确定扩大和维持期间的重要因素。我们使用多方法定性方法将从 10 个项目委员会收集的纵向项目数据与对研究团队成员进行的 16 次半结构化访谈进行整合。使用实施研究综合框架 (CFIR) 对这两个数据集进行了分析，以确定早期、中期和未来实施阶段中感兴趣的结构。实施过程中存在多个 CFIR 结构。实施的复杂性带来了挑战，这些挑战可以通过高质量设计和包装的产品、正式和非正式的网络和沟通以及知识和信息的获取来克服。通过资源以及增加社区和非遗传专业参与来满足多样化的消费者需求仍然是整个和未来维持的优先事项。展望未来，重点是进一步解决计划复杂性和确保资金到位。通过应用实施框架，本研究的结果可能有助于未来建立和/或维持生殖遗传携带者筛查计划。