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基因检测的价值:超越临床应用。

The value of genetic testing: beyond clinical utility.

机构信息

VA HSR&D Center for Healthcare Organization and Implementation Research, VA Boston Healthcare System, Boston, Massachusetts, USA.

VA HSR&D Center for the Study of Healthcare Innovation, Implementation &Policy, VA Greater Los Angeles Healthcare System, Los Angeles, California, USA.

出版信息

Genet Med. 2017 Jul;19(7):763-771. doi: 10.1038/gim.2016.186. Epub 2016 Dec 15.

DOI:10.1038/gim.2016.186
PMID:27977007
Abstract

OBJECTIVE

To assess the value of genetic testing from the perspective of the Department of Veterans Affairs (VA) clinical leadership.

METHODS

We administered an Internet-based survey to VA clinical leaders nationwide. Respondents rated the value (on a 5-point scale) of each of six possible reasons for genetic testing. Bivariate and linear regressions identified associations between value ratings and environmental, organizational, provider, patient, and encounter characteristics.

RESULTS

Respondents (n = 353; 63% response rate) represented 92% of VA medical centers. Tests that inform clinical management had the highest value rating (58.6%), followed by tests that inform disease prevention (56.4%), reproductive options (50.1%), life planning (43.9%), and a suspected (39.9%) or established (32.3%) diagnosis. Factors positively associated with high value included a culture that fosters adoption of genomics, specialist versus primary care provider, genetic tests available on laboratory menus, availability of genetic testing guidelines, clinicians knowing when to request genetics referrals, and availability of genetics professionals.

CONCLUSION

Our results demonstrate the varied value of genetic testing from the perspective of clinical leadership within a health-care system. Engaging organizational leadership in understanding the various reasons for genetic testing and its value beyond clinical utility may increase adoption of genetic tests to support patient-centered care.Genet Med advance online publication 15 December 2016.

摘要

目的

从退伍军人事务部(VA)临床领导层的角度评估基因检测的价值。

方法

我们向全国范围内的 VA 临床领导者进行了一项基于互联网的调查。受访者对基因检测的六种可能原因中的每一种进行了价值(五分制)评估。双变量和线性回归分析确定了价值评估与环境、组织、提供者、患者和就诊特征之间的关联。

结果

受访者(n=353;63%的回复率)代表了 92%的 VA 医疗中心。用于指导临床管理的检测具有最高的价值评分(58.6%),其次是用于指导疾病预防(56.4%)、生殖选择(50.1%)、生活规划(43.9%)以及疑似(39.9%)或已确诊(32.3%)的诊断。与高价值相关的因素包括促进基因组学采用的文化、专家与初级保健提供者、实验室菜单上提供的基因检测、基因检测指南的可用性、临床医生了解何时请求遗传学转诊以及遗传学专业人员的可用性。

结论

我们的研究结果从医疗保健系统内临床领导的角度展示了基因检测的不同价值。让组织领导层了解基因检测的各种原因及其超越临床效用的价值,可能会增加支持以患者为中心的护理的基因检测的采用。遗传医学在线发表 2016 年 12 月 15 日。

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