Factors Assessed

The Genome Informed Risk Assessment (GIRA) report outlines risk factors for nine common conditions for adult participants and four common conditions for children. A participant's risk of a disease is assessed based on specific criteria for each disease. Participants in the eMERGE study and their healthcare professionals receive the GIRA report. After assessing the report's findings, they may make decisions about clinical actions to reduce disease risk.

The GIRA report includes an assessment of these factors to estimate a participant's risk of getting a disease:

  • Polygenic risk. This estimates the risk of getting a disease from common variants in multiple genes.
  • Monogenic risk. This estimates the risk of getting a disease from rare variants in one gene.
  • Family history. Knowing if participants' relatives have had certain conditions helps assess risk of some of the conditions.
  • Clinical risk. This calculates integrated risk scores for two diseases and reports absolute risk estimates.
Infographic showing the factors assessed in the GIRA report No caption