EHR and Genomic Data

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Integrating the genomic data into EHR systems has been a long cherished dream for many EHR vendors. However, pulling genomic data into EHR is a complex task because of the volume of genomic data and the difficulty in interpretation. The Institute of Medicine (IOM) has convened a collaborative called DIGITizE under Dr. Sandy Aronson and Dr. John David Nolen to standardize this integration and to study the privacy, security and scalability issues.

One proposed solution is to let the labs store the raw data and exchange the metadata with EHR systems using the emerging HL7’s FHIR standard. A prototyping work attached an FHIR application protocol interface (API) layer to proprietary sequencing platforms and EHRs in order to expose gene variant data for presentation to the end-user. [ 1 ]Representatives from Cerner, Epic, and Allscripts are involved in this collaborative.

EHR & eMERGE Network

The Electronic Medical Records and Genomics (eMERGE) Network is another initiative started in 2007 by National Human Genome Research Institute (NHGRI). The goal was to combine DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine. 

The network demonstrated that EMR phenotyping to develop cohorts for genome-wide studies was a robust approach to genetic discovery, defined approaches for enhancing privacy of shared EMR data, and engaged patients and communities in consent and data sharing. The eMERGE aspires to make the results of genomic association studies available to healthcare providers to aid decision making.



  1. Alterovitz G, Warner J, Zhang P, Chen Y, Ullman-Cullere M, Kreda D, Kohane IS. SMART on FHIR Genomics: Facilitating standardized clinico-genomic apps. J Am Med  Inform Assoc. 2015 Jul 21. pii: ocv045. doi: 10.1093/jamia/ocv045