Leveraging the electronic health record to implement genomic medicine

The use of whole-genome/exome sequence in select clinical settings to improve health and prevent disease, considered to be improbable a few years ago, is now approaching reality. However, the advent of “next-generation” sequencing technologies presents a paradox: the prospect of managing ever-increasing amounts of genomic data is in itself an obstacle to the vision of genome-informed health care. Here, we present our view that the solution to integrating these data into the flow of health care lies in a genome-enabled electronic health record (EHR).1 Such EHRs would receive, store, and present complex genomic information for clinical use, incorporate clinical decision support to help providers practice individualized medicine, and provide links to relevant knowledge resources. Although adoption of EHRs is increasing, the majority of EHR systems are not configured to deal with genetic data,2 particularly data from whole-genome/exome sequences. This article summarizes the challenges in implementing genomic medicine using the EHR and discusses the role various stakeholders might play in addressing these challenges.