Polygenic risk scores (PRSs) are a cutting-edge tool in genetics, combining information from genetic markers across the genome to estimate a person's risk of developing certain diseases, such as coronary artery disease (CAD). By analyzing a person's DNA, PRSs offer insights into an individual's genetic predisposition for conditions like heart disease, potentially informing a more personalized approach to health care. But there can be significant variability across currently available PRSs, which may limit their reliability for individual predictions, according to new research from the Perelman School of Medicine at the University of Pennsylvania published this week in JAMA and presented at the American Heart Association's Scientific Sessions in Chicago.
The researchers analyzed data from more than 260,000 participants from diverse backgrounds and found that although most PRSs performed similarly when predicting CAD risk across populations, individual-level predictions varied widely. Many participants were placed in both high and low-risk categories by different PRSs, suggesting that patients could receive conflicting advice based on which score is used. "Polygenic risk scores represent an exciting frontier in personalized medicine that has been gaining traction in clinics and as commercial health tests, but our findings suggest that they need to be used carefully," said co-lead author Michael G.
Levin, MD, an assistant professor of Cardiovascular Medicine and cardiologist at .