Walton Holly, Daniel Morgan, Peter Michelle, McInnes-Dean Hannah, Mellis Rhiannon, Allen Stephanie, Fulop Naomi J, Chitty Lyn S, Hill Melissa
Institute of Epidemiology and Health Care, University College London, London, UK.
North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Public Health Genomics. 2025;28(1):34-52. doi: 10.1159/000543104. Epub 2024 Dec 12.
In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical and two laboratory teams. While there was high level national guidance to support implementation, it was unclear how the service had been delivered in practice. This study evaluated pES service implementation across England, using the major system change (MSC) framework to explore links between implementation approaches and outcomes.
We conducted a national mixed-methods multi-site study of 17 clinical genomics services, their linked fetal medicine services and two laboratories delivering the pES service. The MSC framework informed the study. Key documents, semi-structured interviews (eight national service developers, 55 staff), and surveys (n = 159 staff) were analysed using inductive and deductive thematic analysis and descriptive statistics. Findings were integrated.
Implementation was influenced by a range of factors including evidence of benefit, laboratory service reconfiguration, and stakeholder support. Local implementation approaches varied; seven models of service delivery were identified. Key differences between models included leadership, staffing, and multidisciplinary team approaches. Local staff factors (e.g., time, capacity, attitudes), pES service factors (e.g., communication/collaboration, logistics), and organisational factors (e.g., infrastructure and previous experience) influenced implementation.
We have identified multiple barriers and facilitators that are associated with implementing a major change to genomic services in a complex national healthcare system. This study highlights which models of pES may work in practice and why. Findings will inform future development of the pES service.
2020年10月，一项全国性的快速产前外显子组测序（pES）服务在英国国家医疗服务体系（NHS）全面推出。该服务由多个临床团队和两个实验室团队提供。虽然有高层次的国家指导来支持实施，但尚不清楚该服务在实际中是如何提供的。本研究评估了英格兰地区pES服务的实施情况，采用重大系统变革（MSC）框架来探索实施方法与结果之间的联系。
我们对17个临床基因组学服务机构、与之相关的胎儿医学服务机构以及提供pES服务的两个实验室进行了一项全国性的混合方法多地点研究。MSC框架为该研究提供了指导。使用归纳和演绎主题分析以及描述性统计方法对关键文件、半结构化访谈（8名国家服务开发者、55名工作人员）和调查（n = 159名工作人员）进行了分析。研究结果进行了整合。
实施受到一系列因素的影响，包括益处证据、实验室服务重新配置以及利益相关者的支持。当地的实施方法各不相同；确定了七种服务提供模式。模式之间的关键差异包括领导、人员配备和多学科团队方法。当地工作人员因素（如时间、能力、态度）、pES服务因素（如沟通/协作、后勤）和组织因素（如基础设施和以往经验）影响了实施。
我们已经确定了在复杂的国家医疗系统中对基因组服务进行重大变革实施过程中相关的多个障碍和促进因素。本研究突出了哪些pES模式在实践中可能有效以及原因。研究结果将为pES服务的未来发展提供参考。
