CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

J Am Med Inform Assoc
Authors
Keywords
Abstract

OBJECTIVE: Clinicians' ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need to develop systems to effectively display genetic information in EHRs and augment clinical decision support (CDS).

MATERIALS AND METHODS: The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research and Electronic Medical Records & Genomics EHR Working Groups conducted a multiphase, iterative process involving working group discussions and 2 surveys in order to determine how genetic and genomic information are currently displayed in EHRs, envision optimal uses for different types of genetic or genomic information, and prioritize areas for EHR improvement.

RESULTS: There is substantial heterogeneity in how genetic information enters and is documented in EHR systems. Most institutions indicated that genetic information was displayed in multiple locations in their EHRs. Among surveyed institutions, genetic information enters the EHR through multiple laboratory sources and through clinician notes. For laboratory-based data, the source laboratory was the main determinant of the location of genetic information in the EHR. The highest priority recommendation was to address the need to implement CDS mechanisms and content for decision support for medically actionable genetic information.

CONCLUSION: Heterogeneity of genetic information flow and importance of source laboratory, rather than clinical content, as a determinant of information representation are major barriers to using genetic information optimally in patient care. Greater effort to develop interoperable systems to receive and consistently display genetic and/or genomic information and alert clinicians to genomic-dependent improvements to clinical care is recommended.

Year of Publication
2015
Journal
J Am Med Inform Assoc
Volume
22
Issue
6
Pages
1231-42
Date Published
2015 Nov
ISSN
1527-974X
URL
DOI
10.1093/jamia/ocv065
PubMed ID
26142422
PubMed Central ID
PMC5009914
Links
Grant list
U01HG006379 / HG / NHGRI NIH HHS / United States
U01 HG006507 / HG / NHGRI NIH HHS / United States
U01HG006375 / HG / NHGRI NIH HHS / United States
U01HG006830 / HG / NHGRI NIH HHS / United States
U01 HG006500 / HG / NHGRI NIH HHS / United States
U01HG006382 / HG / NHGRI NIH HHS / United States
U01 HG006485 / HG / NHGRI NIH HHS / United States
UL1 TR001422 / TR / NCATS NIH HHS / United States
R01 HG006600 / HG / NHGRI NIH HHS / United States
U01HG006380 / HG / NHGRI NIH HHS / United States
U01 HG006487 / HG / NHGRI NIH HHS / United States
UM1 HG007301 / HG / NHGRI NIH HHS / United States
U01HG006388 / HG / NHGRI NIH HHS / United States
UM1 HG007292 / HG / NHGRI NIH HHS / United States
UM1 HG006508 / HG / NHGRI NIH HHS / United States
U01 HG008680 / HG / NHGRI NIH HHS / United States
U01 HG006546 / HG / NHGRI NIH HHS / United States
U01HG006385 / HG / NHGRI NIH HHS / United States
U01HG006378 / HG / NHGRI NIH HHS / United States
U01 HG007307 / HG / NHGRI NIH HHS / United States
U01HG006828 / HG / NHGRI NIH HHS / United States
U01 HG006492 / HG / NHGRI NIH HHS / United States
U01HG006389 / HG / NHGRI NIH HHS / United States