NEW ORLEANS, Louisiana — Prostate-specific antigen (PSA) is an imperfect screening biomarker for prostate cancer, but new data indicate that accounting for noncancer genetic factors that influence PSA levels could improve the test's accuracy.
In a large genome-wide association study of PSA levels in men without prostate cancer, researchers developed and validated a genetic score that determines an individual's genetic predisposition to high PSA levels.
The goal of the genetic score, the investigators say, is to adjust for variations in PSA values that do not reflect prostate cancer.
The analysis, presented at the American Association for Cancer Research (AACR) Annual Meeting 2022, showed that the polygenic score did appear to improve detection of clinically significant disease and reduce the incidence of false-positive results.
"Because of its poor sensitivity and specificity, PSA testing can often lead to detecting latent disease or, in some cases, missing aggressive tumors," lead author Linda Kachuri, PhD, MPH, from the University of California, San Francisco, said in a press release. However, by adjusting an individual's PSA values based on the influence of inherited genetics, PSA testing is "more likely to reveal changes in PSA due to prostate cancer."
PSA, which is secreted by prostatic epithelial tissues, can be elevated in the presence of prostate cancer — but it can also be elevated by a host of factors unrelated to cancer, such as older age, infections, inflammation, or benign prostatic hyperplasia.