Overview

Welcome to the Genome Informed Risk Assessment (GIRA) and Recommendations webpage. This webpage provides clinical recommendations related to the electronic Medical Records and GEnomics (eMERGE) Network phase IV study. For more details, please view the video below by Iftikhar Kullo, M.D., the principal investigator for the eMERGE Network at Mayo Clinic.

eMERGE Study

Iftikhar Kullo, M.D., principal investigator of the eMERGE Network at Mayo Clinic, provides an overview of the program.

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 electronic MEdical Records and GEnomics (eMERGE) Network is funded by the National Institutes of Health (NIH) to advance genomic discovery and implementation. The network is composed of 10 academic medical institutions across the United States. As part of the eMERGE phase IV study, polygenic risk scores are being returned to approximately 2000 participants at Mayo Clinic in Rochester, Minnesota, and to approximately 500 participants at Mountain Park Health Center in Phoenix, Arizona.

The eMERGE Network is recruiting diverse racial and ethnic groups in the United States and underrepresented groups in health care research, including people with disabilities, LGBTQIA+ people and people who have limited access to healthcare.

Institutions participating in the eMERGE network: Broad Institute, Cincinnati Children's, The Children's Hospital of Philadelphia, Columbia University, Mount Sinai School of Medicine, 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

In eMERGE phase IV, the focus is on genetic susceptibility to common conditions and learning about how people’s genetic makeup and family history affect their risk of developing common conditions such as heart disease, diabetes and cancer.

Graphic illustrating polygenic risk, clinical factors, monogenic risk and family history as interlocking puzzle pieces.

Participants who join 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 records. Participants will receive a report about their personal risk for common diseases.