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.

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.