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实施基因组信息资源的实际考量。来自eMERGE和CSER的经验。

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

作者信息

Rasmussen Luke V, Overby Casey L, Connolly John, Chute Christopher G, Denny Joshua C, Freimuth Robert, Hartzler Andrea L, Holm Ingrid A, Manzi Shannon, Pathak Jyotishman, Peissig Peggy L, Smith Maureen, Williams Marc S, Shirts Brian H, Stoffel Elena M, Tarczy-Hornoch Peter, Rohrer Vitek Carolyn R, Wolf Wendy A, Starren Justin

机构信息

Luke Rasmussen, Division of Health and Biomedical Informatics, Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, 750 North Lake Shore Drive, 11th Floor, Rubloff Building, Chicago, IL 60611, Phone: 312-503-2823.

出版信息

Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060.

Abstract

OBJECTIVES

To understand opinions and perceptions on the state of information resources specifically targeted to genomics, and approaches to delivery in clinical practice.

METHODS

We conducted a survey of genomic content use and its clinical delivery from representatives across eight institutions in the electronic Medical Records and Genomics (eMERGE) network and two institutions in the Clinical Sequencing Exploratory Research (CSER) consortium in 2014.

RESULTS

Eleven responses representing distinct projects across ten sites showed heterogeneity in how content is being delivered, with provider-facing content primarily delivered via the electronic health record (EHR) (n=10), and paper/pamphlets as the leading mode for patient-facing content (n=9). There was general agreement (91%) that new content is needed for patients and providers specific to genomics, and that while aspects of this content could be shared across institutions there remain site-specific needs (73% in agreement).

CONCLUSION

This work identifies a need for the improved access to and expansion of information resources to support genomic medicine, and opportunities for content developers and EHR vendors to partner with institutions to develop needed resources, and streamline their use - such as a central content site in multiple modalities while implementing approaches to allow for site-specific customization.

摘要

目标

了解针对基因组学的信息资源状况以及临床实践中信息传递方式的意见和看法。

方法

2014年,我们对电子病历与基因组学(eMERGE)网络中八个机构以及临床测序探索性研究(CSER)联盟中两个机构的代表进行了基因组内容使用及其临床传递情况的调查。

结果

来自十个地点的代表的11份回应,代表了不同的项目,显示出内容传递方式的异质性,面向提供者的内容主要通过电子健康记录(EHR)传递(n = 10),而纸质材料/小册子是面向患者内容的主要传递方式(n = 9)。普遍认为(91%),需要为患者和提供者提供特定于基因组学的新内容,虽然这些内容的某些方面可以在各机构之间共享,但仍存在特定地点的需求(73%表示同意)。

结论

这项工作表明需要改善信息资源的获取并扩大其范围以支持基因组医学,同时也为内容开发者和电子健康记录供应商提供了机会,使其能够与各机构合作开发所需资源并简化其使用方式,例如建立多模式的中央内容网站,同时实施允许特定地点定制的方法。

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