Informatics: Variability in EHR display of genomic data influences clinical use

Published: July 17th, 2015

Category: Stories

Dyson Wake, PharmD

As precision medicine advances and increasing amounts of genomic and genetic data are incorporated into the electronic health record (EHR), needs for storing, accessing, and displaying this information for clinical use will increase exponentially. Additional data are needed to inform and prioritize developments in this area.

In the July 2015 issue of the Journal of the American Medical Informatics Association, researchers from the National Institutes of Health (NIH)-funded Clinical Sequencing Exploratory Research (CSER) and Electronic Medical Records & Genomics EHR (eMERGE) described results of an iterative, two-phase discussion and survey process. This study was conducted to determine 1) how genetic and genomic information are currently displayed in EHRs; 2) envision optimal uses for different types of genetic or genomic information; and 3) prioritize areas for EHR improvement.

In Phase 1 of this study, investigators categorized types of genetic information displayed in the EHR, assessed its location, and defined its format. Researchers documented twelve genetic data categories (Table 1) including “Pharmacogenomics,” “Variants of uncertain significance,” and “Risk actionable,” data; categories were not exclusive. Although significant heterogeneity existed in survey results regarding factors affecting display of genetic information in the EHR, the source laboratory primarily determined the location of the genetic information in the EHR for laboratory-based data.

In Phase 2, researchers identified recommendations for improving the display of genetic information in the EHR. Out of a total of 20 distinct recommendations, the following suggestions were ranked as high priority by at least 50% of respondents:

  • Develop effective clinical decision support (CDS) for genetic results that are medically actionable;
  • Develop a decision support knowledge base to recommend appropriate actions (e.g., treatment, confirmatory diagnostic testing, specialty consultation);
  • Develop a mechanism for medically actionable genetic information to trigger an alert to the treating clinician;
  • Develop mechanisms to trigger an alert about pharmacogenomic information related to drug reactions if a relevant drug is prescribed; and
  • Develop effective CDS for genetic results that are diagnostic/disease defining.

Clinical Implications

Study results highlight several key issues affecting the clinical accessibility and use of genetic and genomic data through the EHR. A majority of respondents reported that in their EHR this information is displayed as PDFs of lab reports or paragraphs of text. Only a few, specific categories (such as pharmacogenomics) reported a significant usage of discrete data fields. “How genetic information is stored and displayed has profound implications for how those data can be used,” study authors wrote. This factor alone limits the accessibility of the genetic information and makes CDS efforts labor intensive if not impossible. Study authors concluded that efforts must quickly be made to improve the storage and presentation of genetic and genomic data in the EHR if that information is to be incorporated into routine clinical practice.

More information about the work groups involved may be found on the CSER and eMERGE websites; additional information about Clinical Pharmacogenetics Implementation (CPIC) efforts in this area is available from the CPIC Informatics Work Group.


Shirts BH et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Jul 3 [Epub ahead of print].