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从将危重症儿童的超快速基因组检测扩大到全国范围中汲取经验。

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.

作者信息

Best Stephanie, Brown Helen, Lunke Sebastian, Patel Chirag, Pinner Jason, Barnett Christopher P, Wilson Meredith, Sandaradura Sarah A, McClaren Belinda, Brett Gemma R, Braithwaite Jeffrey, Stark Zornitza

机构信息

Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia.

Australian Genomics, Melbourne, VIC, Australia.

出版信息

NPJ Genom Med. 2021 Jan 28;6(1):5. doi: 10.1038/s41525-020-00168-3.

Abstract

In scaling up an ultra-rapid genomics program, we used implementation science principles to design and investigate influences on implementation and identify strategies required for sustainable "real-world" services. Interviews with key professionals revealed the importance of networks and relationship building, leadership, culture, and the relative advantage afforded by ultra-rapid genomics in the care of critically ill children. Although clinical geneticists focused on intervention characteristics and the fit with patient-centered care, intensivists emphasized the importance of access to knowledge, in particular from clinical geneticists. The relative advantage of ultra-rapid genomics and trust in consistent and transparent delivery were significant in creating engagement at initial implementation, with appropriate resourcing highlighted as important for longer term sustainability of implementation. Our findings demonstrate where common approaches can be used and, significantly, where there is a need to tailor support by professional role and implementation phase, to maximize the potential of ultra-rapid genomic testing to improve patient care.

摘要

在扩大超快速基因组学项目规模的过程中,我们运用实施科学原则来设计并研究对实施过程的影响因素,同时确定实现可持续“真实世界”服务所需的策略。与关键专业人员的访谈揭示了网络与关系建立、领导力、文化以及超快速基因组学在危重症儿童护理中所具有的相对优势的重要性。临床遗传学家关注干预特征以及与以患者为中心的护理的契合度,而重症监护医生则强调获取知识的重要性,尤其是来自临床遗传学家的知识。超快速基因组学的相对优势以及对持续且透明服务的信任在项目初始实施阶段对于促进参与度具有重要意义,同时充足的资源投入对于实施的长期可持续性也至关重要。我们的研究结果表明了哪些通用方法可以采用,并且显著的是,哪些地方需要根据专业角色和实施阶段来定制支持,以最大限度地发挥超快速基因检测改善患者护理的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b91/7843635/ca25915cefd3/41525_2020_168_Fig1_HTML.jpg

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