临床医生报告的基因检测效用指数（C-GUIDE）的开发：一种衡量基因检测临床效用的新策略。
The development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE): a novel strategy for measuring the clinical utility of genetic testing.
机构信息
Program in Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.
Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.
出版信息
Genet Med. 2020 Jan;22(1):95-101. doi: 10.1038/s41436-019-0620-0. Epub 2019 Jul 31.
PURPOSE
Clinical utility describes a genetic test's value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that operationalizes this concept.
METHODS
Item selection for the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was informed by a scoping review of the literature. Item reduction was guided by qualitative and quantitative feedback from semistructured interviews and a cross-sectional survey of genetics and nongenetics specialists. Final item selection, index scoring, and structure were guided by feedback from an expert panel of genetics professionals.
RESULTS
A review of 194 publications informed the selection of a preliminary set of 25 items. Feedback from 35 semistructured interviews, 113 surveys, and 11 expert panelists informed the content and wording of C-GUIDE's final set of 18 items that reflect on the utility of testing related to diagnosis, management, and familial/psychosocial impact. C-GUIDE achieves content and face validity for use in a range of diagnostic genetic testing settings.
CONCLUSION
Work to establish reliability and construct validity is underway. C-GUIDE will be useful in comparative studies to generate policy-relevant evidence pertaining to the clinical utility of genetic testing across a range of settings.
目的
临床实用性描述了基因检测对患者、家庭、医疗保健提供者、系统或社会的价值。本研究旨在从临床医生的角度定义临床实用性，并开发一种新的结果衡量标准来实现这一概念。
方法
临床医生报告的基因检测实用性指数（C-GUIDE）的项目选择是通过对文献进行广泛审查来指导的。半结构化访谈和遗传与非遗传专家的横断面调查提供的定性和定量反馈指导了项目的缩减。最终项目选择、指数评分和结构由遗传学专业人员的专家小组提供的反馈指导。
结果
对 194 篇出版物的审查为初步的 25 个项目选择提供了信息。35 次半结构化访谈、113 次调查和 11 位专家小组成员的反馈意见为 C-GUIDE 的最终 18 个项目的内容和措辞提供了信息，这些项目反映了检测在诊断、管理和家族/心理社会影响方面的实用性。C-GUIDE 在一系列诊断性遗传检测环境中具有内容和表面有效性。
结论
正在进行建立可靠性和结构有效性的工作。C-GUIDE 将在比较研究中有用，可生成与遗传检测在一系列环境中的临床实用性相关的具有政策相关性的证据。
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