About the Collaborative
The Action Collaborative on Displaying and Integrating Genetic Information Through the EHR (DIGITizE), was an ad hoc activity under the auspices of the Roundtable on Genomics and Precision Health at the National Academies of Sciences, Engineering, and Medicine (the National Academies), convening 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. The products of DIGITizE do not necessarily represent the views of any one organization, the Roundtable, or the National Academies and have not been subjected to the review procedures of, nor are they a report or product of, the National Academies.

Note: In early 2018, DIGITizE transitioned from the National Academies' Roundtable on Genomics and Precision Health to the HL7 FHIR Foundation to continue its mission.

Issue
The sequencing of the human genome has facilitated a tremendous increase in our understanding of disease. Health care practitioners now have the ability to determine in which patient a drug will be most effective or where a patient may forgo therapy due to a lack of clinical benefit. This greater understanding, combined with the technological advances that have significantly improved genome sequencing accuracy while decreasing its cost, has led to large-scale sequencing now being used in clinical practice to aid in diagnosis and to identify treatment options for patients. However, there are a number of challenges encountered when this large amount of data is integrated into medical practice. While linking health data from genomics and other fields to the electronic health record (EHR) would be of benefit for learning about disease, treatment efficacy, outcomes, and drug safety, these platforms do not currently have the ability to handle genomic information. There is a lack of standards for the data, and interoperability, scalability, privacy, security, and storage issues need to be resolved before these data can be used effectively in the clinic and for research purposes. A coordinated, collaborative effort to engage key stakeholder populations will be needed to set these standards in order to improve patient health and maximize the knowledge that could be gained if genomic information were successfully integrated into the EHR in a format that would allow for research.

Work Products

• Establishing Connectivity and Pharmacogenomic Clinical Decision Support Rules to Protect Patients Carrying HLA-B*57:01 and TPMT Variants: An Implementation Guide
• Establishing Connectivity and Clinical Decision Support Rules for Patients Carrying MLH1, MSH2, MSH6, and PMS2 (Lynch Syndrome) Variants: An Implementation Guide
• Use Case Types
• Pharmacogenetics Standards Model
• Lab Interpreted Result Concept Overview

Previous Meetings
June 26, 2014
September 11, 2014
January 14, 2015

Participants
The action collaborative engaged key stakeholders representing multiple sectors including EHR developers and academic health center end user representatives,government agencies, and other health information technology professionals. Participants of this Action Collaborative also included representatives with subject matter expertise in clinical decision support tools, standards for genomic language, and genomic data privacy issues.

Organizations
Allscripts
American College of Medical Genetics and Genomics
ARUP Laboratories
athenahealth
Avera
Cerner
Duke University
Epic
First Databank
Geisinger Health System
Genetic Alliance
Good Start Genetics
Intermountain Healthcare
Invitae
Johns Hopkins University
Kaiser Permanente
Martin, Blanck, and Associates
Mayo Clinic
McKesson
Meditech
Mission Health
Mount Sinai School of Medicine
NextGxDx
Northrop Grumman
Partners eCare
Partners Healthcare Personalized Medicine
Personalis
Soft Computer Corporation
St. Jude Children’s Research Hospital
Sunquest Information Systems
Syapse
University of Iowa
University of Minnesota
University of North Carolina, Chapel Hill
University of Vermont Medical Center
University of Washington
Vanderbilt University
Federal Agencies
Centers for Disease Control and Prevention
Department of Defense
Food and Drug Administration
National Cancer Institute
National Center for Biotechnology Information
National Human Genome Research Institute
National Institute of Dental and Craniofacial Research
Office of the National Coordinator for Health IT
Veteran’s Administration