GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
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DOI：
10.1038/s41436-020-01063-z
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发表时间：
2021-05
期刊：
影响因子：
--
通讯作者：
Kenny EE
中科院分区：
文献类型：
--
作者：
Suckiel SA;Odgis JA;Gallagher KM;Rodriguez JE;Watnick D;Bertier G;Sebastin M;Yelton N;Maria E;Lopez J;Ramos M;Kelly N;Teitelman N;Beren F;Kaszemacher T;Davis K;Laguerre I;Richardson LD;Diaz GA;Pearson NM;Ellis SB;Stolte C;Robinson M;Kovatch P;Horowitz CR;Gelb BD;Greally JM;Bauman LJ;Zinberg RE;Abul-Husn NS;Wasserstein MP;Kenny EE
基因组测序的使用正在以需要技术解决方案的速度增加，以有效满足不断增长的患者群体的需求。我们开发了一个基于网络的应用程序GUARMA，以加强向患者和家属提供基因组结果和相关临床信息。GUARMA的开发分为五个重叠的阶段：形成性研究，内容开发，利益相关者/社区成员输入，用户界面设计和Web应用程序开发。发育通过涉及其子女接受基因组检测的父母（N = 22）的形成性定性研究进行。参加NYCKidSeq试点研究的参与者（N = 18）使用GUARMA完成了结果披露后的结构化反馈访谈。遗传学专家、研究人员、患者和社区利益攸关方就圭亚那的设计提供了他们的观点，以确保技术、文化和识字的适当性。NYCKidSeq的参与者对使用GUARMA来提供他们孩子的结果做出了积极的回应。所有有过基因检测经验的参与者（N = 10）都认为GUSDA改善了结果披露，17（94%）参与者表示内容清晰。GUARMA以可理解和个性化的方式传达复杂的基因组信息。最初的试点证明了GUARMA对参加NYCKidSeq试点研究的家庭的效用。来自NYCKidSeq临床试验的结果将提供对GUARMA在不同的多语言人群中交流结果的有效性的深入了解。
Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families. GUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative qualitative research involving parents (N = 22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N = 18) completed structured feedback interviews post–result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA’s design to ensure technical, cultural, and literacy appropriateness. NYCKidSeq participants responded positively to the use of GUÍA to deliver their children’s results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear. GUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA’s utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA’s effectiveness in communicating results among diverse, multilingual populations.
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DOI：
10.1056/nejmsr1809937
发表时间：
2019-08-15
期刊：
The New England journal of medicine
影响因子：
--
作者：
All of Us Research Program Investigators;Denny JC;Rutter JL;Goldstein DB;Philippakis A;Smoller JW;Jenkins G;Dishman E
通讯作者：
Dishman E
影响因子：
3.2
作者：
Jooma, Sonya;Hahn, Michael J.;Bonham, Vence L.
通讯作者：
Bonham, Vence L.
影响因子：
1.9
作者：
Hoskovec, Jennifer M.;Bennett, R. L.;Wicklund, C. A.
通讯作者：
Wicklund, C. A.
影响因子：
2.3
作者：
Arora, Nonie S.;Davis, J. Kelly;Ubel, Peter A.
通讯作者：
Ubel, Peter A.
影响因子：
5.6
作者：
Sorlie, Paul D.;Aviles-Santa, Larissa M.;Wassertheil-Smoller, Sylvia;Kaplan, Robert C.;Daviglus, Martha L.;Giachello, Aida L.;Schneiderman, Neil;Raij, Leopoldo;Talavera, Gregory;Allison, Matthew;Lavange, Lisa;Chambless, Lloyd E.;Heiss, Gerardo
通讯作者：
Heiss, Gerardo