PDF(Pubmed)
Abstract：
Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout. Methods: Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022. Results: Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the \"mainstreaming agenda\", whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having \"genomic champions\" embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public. Conclusion: Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time.
摘要：
背景：基因组医学服务（GMS）于2018年在英国启动，旨在改变NHS中基因组学的使用，包括提供全基因组测序（WGS）作为常规护理的一部分。在这项关于儿科罕见疾病诊断的定性研究中，我们使用了一个实施科学框架来确定影响推出的推动者和障碍。方法：在2021年10月至2022年2月之间，对7名参与者进行了半结构化访谈，其中7名参与者负责设计GMS，14名参与者负责领导七个基因组医学服务联盟（GMSA）和/或基因组实验室中心（GLH）的实施。结果：总体而言，那些参与提供服务的人强烈支持其目标和抱负。挑战包括：1）对缺乏训练有素和可用的劳动力（临床医生和科学家）寻求患者同意的担忧，解释发现并传达结果；2)缺乏数字化，协调的基础设施到位，以支持和标准化具有连锁效应的交付，包括同意患者和订购WGS测试所需的繁重的行政管理方面；3）“主流化议程”，虽然被认为是重要的，那些不将其视为优先事项或将其视为政治而非临床驱动的人不愿参与；4）为GMS设定的时间表和目标被某些人认为过于雄心勃勃。受访者讨论了当地的适应措施和策略，以应对他们遇到的各种挑战，包括1)能力建设，2）雇用基因组助理和其他支持人员来支持同意和测试订购过程，3)在主流服务中嵌入“基因组冠军”，以传授知识和最佳实践，4)加强遗传专业和主流专业之间的合作，5）将评估纳入服务，6）与患者和公众共同创造服务。结论：我们的发现强调了在复杂的医疗保健系统中实施全系统变革的挑战。随着时间的推移，地方和国家的解决方案无疑可以解决许多这些障碍。
