探索遗传学家和重症治疗专家之间的合作模式,以便在重症监护机构实施快速基因组测序
Kristen P Fishler1, Hannah S Steber1, Luca Brunelli2
1Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
American journal of medical genetics. Part A
|June 15, 2023
概括
在儿科重症监护室 (ICU) 的快速基因组测序 (rGS) 需要合作. 遗传学家和密集医生倾向于将rGS资格决定转移到ICU团队,以优化工作流程和护理.
科学领域:
- 遗传学 是一个遗传学.
- 儿科重症监护医学 儿科重症监护医学
- 生物伦理学生物伦理学
背景情况:
- 快速基因组测序 (rGS) 越来越多地适用于重症儿童.
- 在新生儿和儿科重症监护室 (ICU) 实施rGS需要遗传学家和重症监护医生之间明确的角色和合作.
研究的目的:
- 探索遗传学家和重症治疗专家关于在儿科重症监护室实施rGS的最佳合作和角色划分的观点.
- 确定挑战,并为可持续和高效的rGS工作流程提出解决方案.
主要方法:
- 进行了一项解释性的混合方法研究.
- 在对13名遗传学和重症监护提供者的采访中嵌入了一项调查.
- 采访被录制,转录和定性编码.
主要成果:
- 遗传学家对身体检查和解释/传达积极结果表示更高的信心.
- 密集型患者在确定测试适当性,传达负面结果和获得同意方面表现出最高的信心.
- 关键主题包括对"基因主导"与"强化主导"模型的担忧,将资格决定转移到ICU专业人员,保持遗传学家在表型化中的作用,并整合遗传咨询师和护士从业人员.
结论:
- 将rGS资格的确定转移到ICU团队可以优化遗传学工作人员的时间.
- 涉及遗传学家主导或强化学家主导的表型模型,以及专门的遗传顾问,可以提高工作流程并减轻与rGS相关的时间负担.
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