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

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

doi:10.1002/cpt.270

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

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

Authors

C L Overby^{1

2}, B Heale³, S Aronson⁴, J M Cherry⁵, S Dwight⁵, A Milosavljevic⁶, T Nelson², A Niehaus⁷, M A Weaver⁸, E M Ramos⁷, M S Williams²

Affiliations

¹ Program for Personalized and Genomic Medicine & Center for Health-related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, Maryland, USA.
² Genomic Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA.
³ University of Utah, Salt Lake City, Utah, USA.
⁴ Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.
⁵ Stanford University, School of Medicine, Stanford, California, USA.
⁶ Baylor College of Medicine, Houston, Texas, USA.
⁷ National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland, USA.
⁸ American College of Medical Genetics and Genomics, Bethesda, Maryland, USA.

PMID: 26418054
PMCID: PMC4724305
DOI: 10.1002/cpt.270

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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Databases, Genetic
Electronic Health Records / trends*
Genetic Variation
Humans
Pharmacogenetics / trends*
Precision Medicine

Abstract

Publication types

MeSH terms

Grants and funding