Overview

Welcome to the eMERGE Genome Informed Risk Assessment study recommendations website. This website offers healthcare professionals clinical recommendations related to the Electronic Medical Records and GEnomics (eMERGE) Network phase 4 study.

eMERGE Study

Iftikhar J. Kullo, M.D., principal investigator of the eMERGE Network at Mayo Clinic, gives a study overview.

Hello,

I'm Dr. Iftikhar Kullo a consultant in the Department of Cardiovascular Medicine and the Gonda Vascular Center, and a clinician and investigator at Mayo Clinic in Rochester, Minnesota.

I appreciate this opportunity to talk about electronic MEdical Records and GEnomics, or eMERGE, phase IV Study.

The eMERGE Network is funded by the National Institutes of Health to identify genetic variants related to health and disease and to help implement genomic medicine. The network comprises ten medical institutions across the United States, including Mayo Clinic. And I serve as the Mayo principal investigator.

Currently in its fourth phase, the eMERGE Network is focusing on the genetic risk of common diseases. And we are studying how an individual's genetic makeup and family history affect his or her risk of developing conditions such as heart disease, diabetes and cancer.

Here at Mayo Rochester we are recruiting 2,000 individuals — 1,900 adults and 100 adolescents ages 13-17. Participants in the study will be asked to sign a consent form, complete surveys about their health, and their family's health history, give a blood or saliva sample for DNA testing and allow the study team to access their electronic health record.

Each participant will receive a report called the Genome-Informed Risk Assessment, or GIRA, that summarizes their personal risk for common health conditions. A study team member or a genetic counselor will meet with the participants found to be at high genetic risk. And we'll address any questions or concerns. High genetic risk is defined as a high polygenic risk score or presence of a pathogenic variant in a gene for hereditary breast and ovarian cancer, Lynch syndrome, familial hypercholesterolemia, and atrial fibrillation.

The GIRA results report will also be sent to clinicians as an in-basket message and will be stored in the patient's electronic health record. Participants may reach out the study team and to their clinicians to schedule an appointment to discuss the results if they have questions.

Our ultimate goal in conducting the study is to improve risk prediction for common diseases, informing strategies to prevent or delay their onset and thereby improve health outcomes.

Thank you for watching this video. Should you have any questions related to the study or have a patient in mind who would be interested in participating, please reach out to us via the contact information provided on this website.

The National Institutes of Health (NIH) funds the eMERGE Network to advance genomic discovery and utility. Ten academic medical institutions across the U.S. are part of the network.

The eMERGE phase 4 study is returning polygenic risk scores to about 2,000 participants at Mayo Clinic in Rochester, Minnesota, and about 500 participants at Mountain Park Health Center in Phoenix, Arizona. These scores estimate the overall risk of getting a disease from common variants in multiple genes. A genetic variant is a change in the DNA sequence that makes up a gene.

The eMERGE Network is recruiting people from diverse racial and ethnic groups across the U.S. The network also is recruiting underrepresented groups in healthcare research, including people:

  • With disabilities.
  • Who identify as LGBTQIA+.
  • Who have limited access to healthcare.
Logos of institutions in the eMERGE network: Broad Institute, Cincinnati Children's, The Children's Hospital of Philadelphia, Columbia University, Icahn School of Medicine at Mount Sinai, Mass General Brigham, Duke University, Mayo Clinic, National Human Genome Research Institute, Northwestern University, The University of Alabama at Birmingham, Vanderbilt University Medical Center, University of Washington Medical Center, Invitae
 

The eMERGE phase 4 study investigates how people's genetic makeup and family history affect their risk of getting common conditions such as heart disease, diabetes and cancer.

Infographic showing polygenic risk, monogenic risk, clinical factors and family history as interlocking puzzle pieces.

Participants who join the study take these steps:

  • Sign a consent form.
  • Complete surveys about their health and their family's health history.
  • Give a blood or saliva sample for DNA testing.
  • Allow the study team to access their electronic health records.

Participants receive reports about their personal risks of common diseases.