Integrating PRS into risk assessments is changing genomic medicine
Current risk assessments used in clinical practice provide patients with an assessment of their risk for complex disease by accounting for a limited set of risk factors, such as smoking status, age, BMI, family history, and in a few cases, presence of rare pathogenic mutations. While these factors play a role in overall risk by additionally taking PRS into account, physicians are able to give patients a more complete and accurate understanding of their individual risk for disease.
What's more, recent research has revealed that an individual's PRS can critically interact with clinical risk factors. For example, PRS modulates the effect on lifetime breast cancer risk conferred by carrying a pathogenic mutation in BRCA1/2 and other moderate impact genes. Another example is LDL cholesterol and PRS for coronary artery disease (CAD), where understanding an individual's overall risk of disease depends on assessing PRS to help define a safe cholesterol level. Accounting for all relevant factors, including PRS, is therefore key to providing patients with a comprehensive assessment of their personalised lifetime risk of disease.