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2
Prospective Feasibility Trial of a Novel Strategy of Facilitated Cascade Genetic Testing Using Telephone Counseling.利用电话咨询促进级联基因检测的新策略的前瞻性可行性试验。
J Clin Oncol. 2020 May 1;38(13):1389-1397. doi: 10.1200/JCO.19.02005. Epub 2020 Jan 10.
3
Methods of usability testing in the development of eHealth applications: A scoping review.电子健康应用程序开发中的可用性测试方法:范围综述。
Int J Med Inform. 2019 Jun;126:95-104. doi: 10.1016/j.ijmedinf.2019.03.018. Epub 2019 Mar 31.
4
Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial.评估一种定制设计的辅助工具,以改善肥厚型心肌病家族中遗传结果的沟通:一项随机对照试验的研究方案。
BMJ Open. 2019 Feb 1;9(1):e026627. doi: 10.1136/bmjopen-2018-026627.
5
Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.对遗传性癌症风险的亲属进行级联遗传检测:在线倡议的结果。
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6
How to support cancer genetics counselees in informing at-risk relatives? Lessons from a randomized controlled trial.如何在告知高危亲属方面为癌症遗传学咨询者提供支持?一项随机对照试验的经验教训。
Patient Educ Couns. 2018 Sep;101(9):1611-1619. doi: 10.1016/j.pec.2018.05.009. Epub 2018 May 8.
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Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting.影响家庭成员间分享癌症遗传结果决策的因素:亚洲背景下女性的深入访谈研究。
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J Clin Oncol. 2017 Jul 10;35(20):2226-2228. doi: 10.1200/JCO.2017.72.8774. Epub 2017 May 2.
9
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10
Communicating genetic test results within the family: Is it lost in translation? A survey of relatives in the randomized six-step study.在家族内部传达基因检测结果:是否在翻译中丢失了信息?一项针对随机六步研究中亲属的调查。
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移动应用程序在美国综合医疗系统中向高危家庭成员传达基因检测结果的效用:来自用户测试的定性方法

Usefulness of mobile apps for communication of genetic test results to at-risk family members in a U.S. integrated health system: a qualitative approach from user-testing.

作者信息

Haas Cameron B, Scrol Aaron, Jujjavarapu Chethan, Jarvik Gail P, Henrikson Nora B

机构信息

Kaiser Permanente Washington Health Research Institute, Seattle, WA.

Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA.

出版信息

Health Policy Technol. 2021 Jun;10(2). doi: 10.1016/j.hlpt.2021.100511. Epub 2021 Apr 22.

DOI:10.1016/j.hlpt.2021.100511
PMID:34040952
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8143032/
Abstract

OBJECTIVE

To assess the usefulness a mobile based application to send genetic test results to at-risk family members in a U.S. integrated health system.

METHODS

We conducted semi-structured in-person interviews with members of Kaiser Permanente Washington who had enrolled in a prospective study and received genetic test results. Participants were given the task to use the app and comment on the experience. The moderator asked participants to share perspectives on the usefulness of a mobile based app and their lived experiences of sharing their test results with family members.

RESULTS

Fourteen study participants who had undergone genetic testing were interviewed. Four primary themes emerged as relevant to the use of mobile-based apps as a tool for communicating genetic test results to at-risk family members: (i) Participants felt a sense of obligation to share positive test results with relatives; (ii) Participants felt that the advantages of using email were similar to those of the app; (iii) Participants felt that younger individuals would be more comfortable with an app; and, (iv) Participants felt they could use the app independently and in their own time.

CONCLUSION

A mobile based app could be used as a tool to improve cascade screening for pathogenic/likely pathogenic test results. The benefits of such a tool are likely greatest among relatives still at the stage of family planning, as well as among family members with strained relationships. There would be minimal burden on the system to offer a mobile based app as a tool.

摘要

目的

评估一款基于手机的应用程序在美国综合医疗系统中向高危家庭成员发送基因检测结果的效用。

方法

我们对华盛顿凯撒医疗机构参与一项前瞻性研究并收到基因检测结果的成员进行了半结构化的面对面访谈。参与者被要求使用该应用程序并对体验发表评论。主持人请参与者分享对基于手机的应用程序的效用以及他们与家庭成员分享检测结果的实际经历的看法。

结果

对14名接受过基因检测的研究参与者进行了访谈。出现了四个与使用基于手机的应用程序作为向高危家庭成员传达基因检测结果的工具相关的主要主题:(i)参与者感到有义务与亲属分享阳性检测结果;(ii)参与者认为使用电子邮件的优点与应用程序类似;(iii)参与者认为年轻人对应用程序会更适应;以及,(iv)参与者觉得他们可以自主且在自己方便的时间使用该应用程序。

结论

基于手机的应用程序可作为一种工具,用于改善对致病/可能致病检测结果的级联筛查。这种工具的益处可能在仍处于计划生育阶段的亲属以及关系紧张的家庭成员中最为显著。提供基于手机的应用程序作为一种工具对系统造成的负担极小。