完善基因组测序结果感知效用的多方面的模型
Devan M Duenas1, Leslie Riddle2, Claudia Guerra3
1Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, Washington, USA.
Public health genomics
|August 22, 2023
概括
这项研究表明,对基因组测序的感知效用模型对于有遗传性癌症风险的成年人来说是相关的. 对实用性的看法可以随着年龄和可用资源的发展而演变.
科学领域:
- 基因组医学是基因组医学.
- 翻译基因组学是翻译的基因组学.
- 医疗保健服务研究 医疗服务研究
背景情况:
- 以前对基因组测序实用性的研究集中在儿科和罕见疾病人群上.
- 一个多方面的感知效用模型存在,但需要在更广泛的成年人群中进行评估.
- 面临遗传性癌症风险的成年人是理解基因组测序实用性的关键人口.
研究的目的:
- 评估现有的多面感知效用模型对具有遗传性癌症风险的多元成人 (18-49岁) 群体的适用性.
- 根据成年参与者的经验,确定模型的新考虑因素.
- 探索对基因组测序实用性的看法如何随着时间的推移而演变,并受到个人环境的影响.
主要方法:
- 利用了癌症健康评估达到许多 (CHARM) 研究的参与者进行的定性访谈,他们接受了临床基因组测序.
- 采用了基于理论的方法来分析面试数据关于对基因组测序实用性的看法.
- 将参与者的实用感知映射到已建立的多面模型中,识别代表的,缺席的和突出的领域.
主要成果:
- 参与者的讨论表明,基因组测序的实用性涵盖了多个领域,并影响了生活的各个方面.
- 对实用性的看法是动态的,在一生中会发生变化,特别是那些在年轻时被排序的人.
- 个人资源的可用性显著影响一个人对基因组测序结果采取行动并感知其实用性的能力.
结论:
- 多面感知效用模型适用于各种成年人群,他们面临着遗传性癌症的风险.
- 模型的改进应该强调公用事业领域的相互联系.
- 生活阶段和个人资源是影响成年人对基因组测序实用性的认知的关键因素.
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