Clinical Risk

Clinical risk factors are used to calculate integrated risk scores for two diseases and report absolute risk estimates:

Breast Cancer

• Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) score.
• BOADICEA score estimates breast cancer risk using family history, lifestyle/hormonal risk factors, mammographic density, rare pathogenic variants in moderate and high-risk breast or ovarian cancer susceptibility genes, and a PRS.
• At present, BOADICEA has only been validated for women of European ancestry and might not be as accurate in other populations.
• More information

Coronary Heart Disease (CHD)

• The pooled cohort equation (PCE) is combined with the PRS to calculate the integrated score.
• The PCE is an established tool used to estimate 10-year risk of coronary heart disease events, such as myocardial infarction, using demographic and clinical risk factors.
• These factors include age, sex, race, total cholesterol, HDL cholesterol, systolic blood pressure, hypertension treatment, current smoking status, and a diabetes diagnosis.
• The PCE is validated in those aged 40+ in European and African American populations. The PCE is not valid for those under the age of 40 and may not be as accurate in other populations.
• More PCE information
• A high integrated score will be included as additional information on the GIRA reports of participants who have been classified as high risk based on a positive monogenic, PRS, or family history result.