Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network

被引：38

作者：

Williams, Marc S. ^{[1
]}

Taylor, Casey Overby ^{[1
,2
]}

Walton, Nephi A. ^{[1
]}

Goehringer, Scott R. ^{[1
]}

Aronson, Samuel ^{[3
]}

Freimuth, Robert R. ^{[4
]}

Rasmussen, Luke, V ^{[5
]}

Hall, Eric S. ^{[6
,7
]}

Prows, Cynthia A. ^{[8
,9
]}

Chung, Wendy K. ^{[10
,11
]}

Fedotov, Alexander ^{[12
]}

Nestor, Jordan ^{[13
]}

Weng, Chunhua ^{[14
]}

Rowley, Robb K. ^{[15
]}

Wiesner, Georgia L. ^{[16
]}

Jarvik, Gail P. ^{[17
,18
]}

Del Fiol, Guilherme ^{[19
]}

机构：

[1] Genom Med Inst, Danville, PA 17822 USA

[2] Johns Hopkins Univ, Dept Med, Baltimore, MD USA

[3] Partners HealthCare, Boston, MA USA

[4] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

[5] Northwestern Univ, Dept Prevent Med, Chicago, IL 60611 USA

[6] Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA

[7] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA

[8] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

[9] Cincinnati Childrens Hosp Med Ctr, Div Patient Serv, Cincinnati, OH 45229 USA

[10] Columbia Univ, Dept Pediat, New York, NY 10027 USA

[11] Columbia Univ, Dept Med, New York, NY USA

[12] Columbia Univ, Irving Inst Clin & Translat Res, New York, NY USA

[13] Columbia Univ, Dept Med, Div Nephrol, New York, NY USA

[14] Columbia Univ, Dept Biomed Informat, New York, NY USA

[15] NHGRI, Bethesda, MD 20892 USA

[16] Vanderbilt Univ, Med Ctr, Dept Internal Med, Div Genet Med, Nashville, TN USA

[17] Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA

[18] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[19] Univ Utah, Dept Biomed Informat, Salt Lake City, UT USA

来源：

FRONTIERS IN GENETICS | 2019年 / 10卷

关键词：

genomics; electronic health record; education; clinical decision support; infobutton; knowledge synthesis; interoperability; implementation; TECHNICAL DESIDERATA; AMERICAN-COLLEGE; INTEGRATION; KNOWLEDGE; EMERGE; FHIR; STANDARDS; GENETICS; SMART; PHARMACOGENOMICS;

D O I：

10.3389/fgene.2019.01059

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genomic knowledge is being translated into clinical care. To fully realize the value, it is critical to place credible information in the hands of clinicians in time to support clinical decision making. The electronic health record is an essential component of clinician workflow. Utilizing the electronic health record to present information to support the use of genomic medicine in clinical care to improve outcomes represents a tremendous opportunity. However, there are numerous barriers that prevent the effective use of the electronic health record for this purpose. The electronic health record working groups of the Electronic Medical Records and Genomics (eMERGE) Network and the Clinical Genome Resource (ClinGen) project, along with other groups, have been defining these barriers, to allow the development of solutions that can be tested using implementation pilots. In this paper, we present "lessons learned" from these efforts to inform future efforts leading to the development of effective and sustainable solutions that will support the realization of genomic medicine.

引用

页数：12

共 54 条

[1]

ACMG, 2001, ACT SHEETS CONF ALG

[2] COPD in individuals with the PiMZ alpha-1 antitrypsin genotype [J].