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eMERGE electronic Medical Records and Genomics Network

eMERGE is a National Institutes of Health (NIH)-funded consortium that allows collaboration among institutions in regards to genomics, statistics, ethics, informatics and clinical medicine. The main goal of this network is to develop approaches to research that use DNA biobanks in combination with electronic medical record (EMR) systems in order to conduct large-scale, high-throughput genetic research. Geisinger's MyCodeTM biobank and advanced EMR form an ideal combination for participation in eMERGE.

In Phase III, which started in September of 2015, the focus is on gene sequencing. All sites will provide approximately 2,500 patient samples for sequencing on a next-generation sequencing chip that contains about 100 genes, as well as other selected variants. These genes and variants have been chosen through a collaborative process with attention to a balance between clinical actionability and discovery. A key aspect of eMERGE III is returning results to participants that can alter clinical care and measuring the impact of this return of results. This marks a major change for eMERGE, which in the first two phases focused on discovery of new gene-disease associations. This will complement the ongoing efforts of the Genomic Medicine Institute, which has been returning results from different sequencing projects for several years.

Sites in Phase III will also lead efforts to identify patients with specific clinical conditions in order to understand the relationship between these conditions and genetic changes. Geisinger is focusing on two common high impact disorders - familial hypercholesterolemia and chronic rhinosinusitis. Familial hypercholesterolemia (FH) is a lipid disorder in which affected individuals are at high risk of developing heart disease at an early age. If identified prior to development of symptoms, it can be treated aggressively to reduce the risk of heart attack and premature death. Less is known about the genetic factors that predispose people to Chronic Rhinosinusitis (CRS), meaning that there will be an excellent opportunity to learn new things about this condition. In addition, we plan to collect and analyze environmental data in order to study the interaction between genetics and the environment.

Another aspect of the project seeks to identify sociocultural concerns related to research in genetics. Through discussion with enrolled participants, concerns regarding implementation of genetic information into clinical practice will be identified. Furthermore, information will be obtained regarding attitudes of participants toward the familial implications of genetic test results. The information about attitudes surrounding familial implications will help researchers better develop proper protocols to address the return of results to the patient, as well as to implicated family members.

The consent, education, regulation and consultation workgroup received supplemental funding from the National Human Genome Research Institute to develop and administer a national survey addressing issues of broad consent and data sharing relative to participation in bio-repositories. Approximately 9,000 Geisinger patients - and 80,000 people nationwide - were sent surveys. The responses will be used to inform discussion on policy and governance of research participation.


  • Marc S Williams, MD, principle investigator
  • David J Carey, PhD
  • Daniel F Davis, PhD
  • Lester H Kirchner, PhD
  • David H Ledbetter, PhD, FACMG
  • Michael F Murray, MD
  • Casey L Overby, PhD
  • Sarah Pendergrass, PhD, MS
  • Alanna K Rahm, PhD, MS, CGC
  • Agnes Sundaresan, MD
  • Janet L Williams, MS, CGC