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Polygenic “scores” may improve cancer screening

Oct. 31, 2023, 12:00 PM

by Bill Snyder

Accounting for genetic variability in biomarkers not associated with cancer risk could avoid unnecessary diagnostic procedures, Mingjian Shi, PhD, John Shelley and their colleagues report this month in the journal eBioMedicine.

Blood levels of prostate-specific antigen (PSA), routinely measured in men aged 45 to 70, can reflect factors other than the risk of prostate cancer. Yet men with PSA levels at or above 4 nanograms per milliliter of blood are often referred for prostate biopsies.

In a study of 3,110 men whose blood samples were stored in Vanderbilt University Medical Center’s DNA repository, BioVU, and linked to their electronic health records, the researchers determined “polygenic scores” from more than 100 genetic variations that affect PSA levels, but which are not associated with prostate cancer.

The researchers found that men aged 45 to 59 whose scores reflected a genetic predisposition to higher benign PSA levels were more likely than older men to undergo prostate biopsies that were negative for cancer.

Incorporating methods like polygenic scores that account for measurable benign genetic variability could improve the accuracy of cancer screening markers and could avoid escalations in clinical care that lead to more consequences than benefits, they concluded.

Jonathan Mosley, MD, PhD, associate professor of Medicine and Biomedical Informatics, is the paper’s corresponding author. Other co-authors from VUMC are Kerry Schaffer, MD, Jeffrey Tosoian, MD, MPH, and Minoo Bagheri, PhD, MSc.

This work was supported in part by National Institutes of Health grants R01GM130791, U01HG011181, T32GM007347, R01CA241410, K01HL165020 and P30CA068485, and by a Prostate Cancer Foundation Young Investigator Award. 

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