The Action Collaborative on Developing Guiding Principles for Integrating Genomic Information Into the Electronic Health Record Ecosystem, as an ad hoc activity under the auspices of the Roundtable on Translating Genomic-Based Research for Health, convenes key stakeholders from health information technology and management vendors, academic health centers, government agencies, and other organizations to work together to examine how genomic information can be uniformly represented and integrated into electronic health records in a standards-based format.
Participants: Co-led by EHR developers and academic health center end user representatives, the Action Collaborative will seek to engage expertise from these groups, government agencies, and other health information technology professionals. Participants of this Action Collaborative also include representatives with subject matter expertise in clinical decision support tools, standards for genomic language, and genomic data privacy issues.

Topic: DIGTizE AC

Presenter: Samuel J. Aronson, Executive Director of IT, Partners Personalized Medicine

Presentation Slides: DIGITizE.Sandy-Aronson-1-7-16.pdf

Webinar Recording: 

Strock.-Genomics-and-the-Electronic-Health-Record.12.03.2016.pdf

Gil-Alterovitz.SMART-on-FHIR-Genomics.11.05.2015.pdf

Overby.10.1.2015.pdf

Northwestern MedicineNorthwestern University is dedicated to translational research efforts and has focused efforts over the last several years on improving the informatics, clinical, and research enterprise.  Northwestern has a widely-deployed, commercial EHR, EPIC, and developed technical approaches for integrating genetic variation data into the health record and effectively present these results using point-of-care, decision support tools to physicians. A goal of this effort is to develop best practices collaboratively within the network, for reporting of genetic variation data and developing local practice guidelines for using genetic data in primary care physicians and their patients, defining the regulatory issues and then disseminating lessons learned and best practice recommendations.

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Vanderbilt’s personalized medicine program strives to be a leading international center in the transformation of medicine to focus on the individual. The mission includes support of discovery, translation and implementation science in the mechanisms of variable susceptibility to disease and drug responses to improve human health. This includes a focus on genomics as well as many other environmental and socio-cultural factors that drive susceptibility to disease and variable drug responses. The program operates from the Office of Personalized Medicine under Dan M. Roden, M.D., Assistant Vice-Chancellor for Personalized Medicine.
Scientific discovery remains the cornerstone for advancing an agenda in personalized medicine. Discoveries can be at the very basic cellular or molecular level, in whole animals, and in patients; moving discoveries from the bench to the bedside remains a high priority as well.
Vanderbilt has a longstanding commitment to personalized medicine that has included:

  • The development of a very large biobank linking DNA samples to de-identified patient records (BioVU)
  • The PREDICT project that embeds genetic information in patient electronic medical records to guide choice of drug and drug dosages
  • Advanced informatics capabilities including a research-receptive electronic medical record
  • Commitment to genomic research and genotyping platforms.

Vanderbilt is a site in three NIH networks: the Pharmacogenomics Research Network (PGRN); Integrated, Individualized, and Intelligent Prescribing (I³P) Network (IGNITE); and the Electronic Medical Records and Genomics Network (eMERGE).

 

Team: Josh Peterson, MD, MPH; Dan Roden, MD; Josh Denny MD, MS