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电子健康记录与基因组学:来自分子病理学协会的观点 电子健康记录 (EHR) 临床基因组学数据互操作性工作组。

Electronic Health Records and Genomics: Perspectives from the Association for Molecular Pathology Electronic Health Record (EHR) Interoperability for Clinical Genomics Data Working Group.

机构信息

The Electronic Health Record Interoperability for Clinical Genomics Data Working Group of the Informatics Subdivision, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Children's Healthcare of Atlanta, Atlanta, Georgia.

The Electronic Health Record Interoperability for Clinical Genomics Data Working Group of the Informatics Subdivision, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio.

出版信息

J Mol Diagn. 2022 Jan;24(1):1-17. doi: 10.1016/j.jmoldx.2021.09.009. Epub 2021 Oct 15.

DOI:10.1016/j.jmoldx.2021.09.009
PMID:34656760
Abstract

The use of genomics in medicine is expanding rapidly, but information systems are lagging in their ability to support genomic workflows both from the laboratory and patient-facing provider perspective. The complexity of genomic data, the lack of needed data standards, and lack of genomic fluency and functionality as well as several other factors have contributed to the gaps between genomic data generation, interoperability, and utilization. These gaps are posing significant challenges to laboratory and pathology professionals, clinicians, and patients in the ability to generate, communicate, consume, and use genomic test results. The Association for Molecular Pathology Electronic Health Record Working Group was convened to assess the challenges and opportunities and to recommend solutions on ways to resolve current problems associated with the display and use of genomic data in electronic health records.

摘要

基因组学在医学中的应用正在迅速扩展,但信息系统在支持实验室和面向患者的医疗服务提供者的基因组工作流程方面的能力却有所滞后。基因组数据的复杂性、缺乏必要的数据标准以及缺乏基因组方面的知识和功能,以及其他一些因素,导致了基因组数据生成、互操作性和利用之间存在差距。这些差距给实验室和病理专业人员、临床医生以及患者在生成、交流、使用和利用基因组检测结果的能力方面带来了重大挑战。分子病理学电子健康记录工作组的成立是为了评估挑战和机遇,并就如何解决与电子健康记录中基因组数据显示和使用相关的当前问题提出解决方案。

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