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At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience

Healthcare Informatics Research
The Korean Society of Medical Informatics (KAMJE)
Publication Date
DOI: 10.4258/hir.2013.19.2.67
  • Editorial
  • Biology
  • Computer Science
  • Medicine


tors from Children’s Hospital of Pennsylvania, Cincinnati Children’s Medical Center with Boston Children’s Hospital, Geisinger Health System, Group Health Cooperative with University of Washington, Marshfield Clinic, Mayo Clinic, Mount Sinai School of Medicine, Northwestern University, and Vanderbilt University. The network’s goals are to discover new associations be- tween genetic variation and disease susceptibility, quantita- tive traits and therapeutic outcomes, including response to drug therapy and adverse events. The consortium has developed a large number of phenotyping algorithms that utilize data captured during routine clinical care to define cases and controls for genomics research [3]. The phenotype algorithms developed by eMERGE are collected and freely available from As a proof of principle, the eMERGE network developed a type 2 diabetes case and control algorithm, identified cases and controls from their cohorts, then used a genome wide association study to identify genetic variation associated with diabetes. This study identified a similar set of genetic variants that had previously been identified using cohorts specifically built for diabetes studies, effectively demonstrat- ing the validity of using routine clinical data for genomics research [4]. In addition it demonstrated that data from multiple clinical sites and different EHR systems could effec- tively be combined across sites. One advantage of this disease agnostic approach for de- veloping cohorts is that the collections of participants in- clude a wide range of diseases, phenotypes and therapeutic responses. Since individuals often exhibit multiple diseases and phenotypes, and individuals selected as a case for one At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience Rex L. Chisholm, PhD Feinberg School of Medicine, Northwestern University, Chicago, IL, USA Healthc Inform Res. 2013 June;19(2):67-68.

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