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Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health
C L Overby1,2, B Heale3, S Aronson4
1Program for Personalized and Genomic Medicine & Center for Health-related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Clinical Pharmacology and Therapeutics
|September 30, 2015
Summary
The Clinical Genome Resource (ClinGen) provides curated genetic data for clinical use. Efforts are underway to integrate this information into Electronic Health Records (EHR) for improved patient care.
Area of Science:
- Genomics
- Bioinformatics
- Clinical Informatics
Background:
- The Clinical Genome Resource (ClinGen) is an NIH-funded initiative.
- ClinGen curates high-quality data on clinically relevant genes and variants.
- Integration into healthcare systems is crucial for clinical utility.
Purpose of the Study:
- To describe the scope and progress of ClinGen's Electronic Health Record (EHR) Workgroup.
- To ensure ClinGen data is accessible to healthcare providers and patients.
- To facilitate the use of genomic information in routine clinical practice.
Main Methods:
- The EHR Workgroup focuses on integrating ClinGen resources into EHR systems.
- Development of standards and tools for EHR data exchange.
- Collaboration with healthcare providers and EHR vendors.
Main Results:
- ClinGen data is becoming increasingly accessible through EHR systems.
- Progress has been made in standardizing genomic data for EHRs.
- The ClinGen public portal offers access to curated genetic information.
Conclusions:
- Integrating ClinGen into EHRs enhances the clinical utility of genomic data.
- Continued collaboration is essential for successful EHR integration.
- This integration supports precision medicine initiatives.
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