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在医疗环境中提供基因组变异知识的获取途径：临床基因组资源（ClinGen）电子健康记录工作组的愿景

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.

作者信息

Overby C L, Heale B, Aronson S, Cherry J M, Dwight S, Milosavljevic A, Nelson T, Niehaus A, Weaver M A, Ramos E M, Williams M S

机构信息

Program for Personalized and Genomic Medicine & Center for Health-related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.

出版信息

Clin Pharmacol Ther. 2016 Feb;99(2):157-60. doi: 10.1002/cpt.270. Epub 2015 Nov 9.

DOI:10.1002/cpt.270
PMID:26418054
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4724305/
Abstract

The Clinical Genome Resource (ClinGen) is a National Institutes of Health (NIH)-funded collaborative program that brings together a variety of projects designed to provide high-quality, curated information on clinically relevant genes and variants. ClinGen's EHR (Electronic Health Record) Workgroup aims to ensure that ClinGen is accessible to providers and patients through EHR and related systems. This article describes the current scope of these efforts and progress to date. The ClinGen public portal can be accessed at www.clinicalgenome.org.

摘要

临床基因组资源（ClinGen）是一个由美国国立卫生研究院（NIH）资助的合作项目，它汇集了各种旨在提供有关临床相关基因和变异的高质量、经过整理的信息的项目。ClinGen的电子健康记录（EHR）工作组旨在确保医疗服务提供者和患者能够通过电子健康记录及相关系统访问ClinGen。本文介绍了这些工作的当前范围和迄今为止取得的进展。可通过www.clinicalgenome.org访问ClinGen公共门户网站。

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Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.在医疗环境中提供基因组变异知识的获取途径：临床基因组资源（ClinGen）电子健康记录工作组的愿景
Clin Pharmacol Ther. 2016 Feb;99(2):157-60. doi: 10.1002/cpt.270. Epub 2015 Nov 9.
2
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation.临床基因组资源（ClinGen）：通过全球整理推进基因组学知识。
Genet Med. 2025 Jan;27(1):101228. doi: 10.1016/j.gim.2024.101228. Epub 2024 Oct 15.
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ClinGen advancing genomic data-sharing standards as a GA4GH driver project.ClinGen 推进基因组数据共享标准作为 GA4GH 的驱动项目。
Hum Mutat. 2018 Nov;39(11):1686-1689. doi: 10.1002/humu.23625.
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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.临床基因组资源（ClinGen）临床领域工作组的发展：经验教训和未来计划。
Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5.
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ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research.临床基因组学癌症体细胞工作组——使癌症分子诊断数据的获取标准化并实现民主化，以推动转化研究。
Pac Symp Biocomput. 2018;23:247-258.
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ClinGen's GenomeConnect registry enables patient-centered data sharing.ClinGen 的 GenomeConnect 注册系统支持以患者为中心的数据共享。
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Am J Health Syst Pharm. 2016 Dec 1;73(23):1967-1976. doi: 10.2146/ajhp160030.
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Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.使用HL7信息按钮标准将基因组资源与电子健康记录整合。
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.ClinGen 变异体管理界面：一个用于应用 ACMG/AMP 指南证据标准的变异体分类平台。
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Int J Biomed Investig. 2018;1(2). doi: 10.31531/2581-4745.1000111. Epub 2018 May 27.
2
An ancillary genomics system to support the return of pharmacogenomic results.支持药代基因组学结果回报的辅助基因组学系统。
J Am Med Inform Assoc. 2019 Apr 1;26(4):306-310. doi: 10.1093/jamia/ocy187.
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Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States.

本文引用的文献

1
Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.利用下一代信息学实现个性化医疗：美国医学信息学会2014年健康政策邀请会议报告
J Am Med Inform Assoc. 2016 Mar;23(2):413-9. doi: 10.1093/jamia/ocv111. Epub 2016 Feb 5.
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CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.CSER与eMERGE：电子健康记录中遗传信息显示的现状与潜在状况
J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3.
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Challenges of web-based personal genomic data sharing.
医生应对大型基因组数据的准备情况：美国基因组医学教育计划述评。
Hum Mol Genet. 2018 Aug 1;27(R2):R250-R258. doi: 10.1093/hmg/ddy170.
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Enhancing Electronic Health Record Data with Geospatial Information.利用地理空间信息增强电子健康记录数据
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5
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.实施基因组信息资源的实际考量。来自eMERGE和CSER的经验。
Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060.
6
ENCODE data at the ENCODE portal.ENCODE门户中的ENCODE数据。
Nucleic Acids Res. 2016 Jan 4;44(D1):D726-32. doi: 10.1093/nar/gkv1160. Epub 2015 Nov 2.
基于网络的个人基因组数据共享面临的挑战。
Life Sci Soc Policy. 2015;11:3. doi: 10.1186/s40504-014-0022-7. Epub 2015 Mar 27.
4
ClinGen--the Clinical Genome Resource.ClinGen——临床基因组资源。
N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27.
5
A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study.接收意义不明确的变异结果时遗传咨询师信息需求的初步调查：一项混合方法研究
Genet Med. 2015 Sep;17(9):739-46. doi: 10.1038/gim.2014.185. Epub 2015 Jan 8.
6
ClinVar: public archive of relationships among sequence variation and human phenotype.ClinVar：序列变异与人类表型之间关系的公共档案。
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5. doi: 10.1093/nar/gkt1113. Epub 2013 Nov 14.
7
A novel clinician interface to improve clinician access to up-to-date genetic results.一种新颖的临床医生界面，可改善临床医生获取最新基因结果的途径。
J Am Med Inform Assoc. 2014 Feb;21(e1):e117-21. doi: 10.1136/amiajnl-2013-001965. Epub 2013 Sep 7.
8
Meeting the electronic health record "meaningful use" criterion for the HL7 infobutton standard using OpenInfobutton and the Librarian Infobutton Tailoring Environment (LITE).使用OpenInfobutton和图书馆员信息按钮定制环境（LITE）满足HL7信息按钮标准的电子健康记录“有意义使用”标准。
AMIA Annu Symp Proc. 2012;2012:112-20. Epub 2012 Nov 3.
9
Direct-to-consumer genomic testing: systematic review of the literature on user perspectives.直接面向消费者的基因组检测：用户视角文献的系统综述。
Eur J Hum Genet. 2012 Aug;20(8):811-6. doi: 10.1038/ejhg.2012.18. Epub 2012 Feb 15.
10
Characteristics of users of online personalized genomic risk assessments: implications for physician-patient interactions.在线个性化基因组风险评估用户的特征：对医患互动的影响。
Genet Med. 2009 Aug;11(8):582-7. doi: 10.1097/GIM.0b013e3181b22c3a.