Study highlights inconsistencies of genetic markers for predicting heart disease

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 healthcare. 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 published in JAMA.

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," says co-lead author Michael G. Levin, an assistant professor of cardiovascular medicine and cardiologist at the Perelman School of Medicine and the Corporal Michael Crescenz VA Medical Center. "At the individual level, these scores can vary quite a bit, which means that the same patient could receive dramatically different risk assessments that impact how doctors make decisions about prevention and treatment."

This story is by Matt Toal. Read more at Penn Medicine News.