|Sandy Aronson, M.A. (Co-Chair)
| John David Nolen, M.D., Ph.D., M.S.P.H. (Co-Chair)
|Executive Director of IT
|| Physician Executive for Clinical Strategy
|Partners HealthCare Personalized Medicine
Current Work and Activities
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
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.
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 Genomics and Precision Health at the National Academies of Sciences, Engineering, and Medicine (the National Academies), 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. 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. The action collaborative has secured the agreement of Intermountain Healthcare, ARUP laboratories, and Cerner to act as an initial pilot for this development. Other pilots are in discussion.
June 26, 2014
September 11, 2014
January 14, 2015
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. A list of representative groups can be found on the next page.