Clinical Risk

The eMERGE study uses clinical risk factors to calculate integrated risk scores for two diseases, breast cancer and coronary heart disease.

Breast cancer

The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) score estimates breast cancer or ovarian cancer risk using:

  • Family history.
  • Lifestyle and hormonal risk factors.
  • Mammographic density.
  • Rare variants in genes that lead to a moderate to high risk of breast or ovarian cancer.
  • Polygenic risk score.

The BOADICEA has only been validated for women of European ancestry. It might not be as accurate for people from other ancestries.

Healthcare professionals can use the online CanRisk tool to calculate an individual's future risks of developing breast and ovarian cancer using cancer family history, genetic and other risk factors.

Find guidelines for assessing breast cancer and more on the Resources page.

Coronary heart disease

The eMERGE study combines an equation called the pooled cohort equation with participants' polygenic risk scores to calculate their integrated risk scores for coronary heart disease. The pooled cohort equation estimates each participant's 10-year risk of coronary heart disease events, such as a heart attack, using demographic and clinical risk factors.

Demographic and clinical risk factors include:

  • Age.
  • Sex.
  • Race.
  • Total cholesterol.
  • High-density lipoprotein, or HDL or good cholesterol.
  • Systolic blood pressure.
  • Receiving treatment for high blood pressure.
  • Smoking status.
  • Diabetes mellitus diagnosis.

The pooled cohort equation is validated in people age 40 and over, and of European or African American ancestry. The pooled cohort equation is not valid for those under 40, and it may not be as accurate in people from other ancestries.

The GIRA report only includes integrated coronary heart disease scores if the participant also has a positive monogenic, or a high polygenic risk score, or family history of premature heart attack.

Find guidelines for assessing cardiovascular risk and more on the Resources page.