Genetic Test Could Improve Early Detection of Prostate Cancer

Current screening with prostate-specific antigen (PSA) blood tests can sometimes miss aggressive disease or trigger unnecessary biopsies due to false positives. Because prostate cancer is highly heritable, researchers have sought more accurate ways to identify men at increased risk before symptoms appear. A new large-scale clinical trial is now evaluating whether a cost-effective genetic test can help detect prostate cancer earlier and better stratify risk than existing screening methods.

Broad Clinical Labs (Cambridge, MA, USA) has partnered with the U.S. Department of Veterans Affairs (Washington, DC, USA) for a nationwide trial, known as the Prostate Cancer, Genetic Risk, and Equitable Screening Study, that aims to enroll 5,000 veterans across the VA healthcare system. The genetic test analyzes hundreds of DNA variants across the genome linked to prostate cancer risk. It is powered by a clinical blended genome-exome sequencing approach, which reads the entire genome at a lower cost than traditional sequencing methods, making it feasible for large clinical research programs.

Researchers developed the Prostate CAncer integrated Risk Evaluation model using genetic, family history, and medical data from nearly 600,000 men in the Million Veterans Program biobank. The model was validated in external datasets, including 74,000 individuals from the NIH’s All of Us Program. The findings, published in Nature Cancer, showed that men predicted to be at the highest genetic risk had a several-fold greater likelihood of being diagnosed with prostate cancer, while those at the lowest risk were diagnosed far less often than average.

The new trial will assess whether incorporating the genetic test into routine care can improve early detection and guide screening decisions. The trial has already enrolled more than 3,000 participants from every U.S. state and territory. High-risk individuals may benefit from enhanced monitoring, while those at low risk could avoid unnecessary biopsies and procedures.

If successful, the results could inform screening strategies beyond the veteran population and support broader implementation of genomic medicine in prostate cancer care. Researchers aim to determine whether genetic risk–guided screening can lead to more personalized, equitable, and effective prevention strategies. The trial has already enrolled more than 3,000 participants from every U.S. state and territory.

“The blended genome-exome is dollar for dollar one of the best value genetic tests you could get today, and we’re excited to see it power a variety of studies looking to accelerate the implementation of genomic medicine, which is core to the mission of Broad Clinical Labs,” said Niall Lennon, a study co-author and chief scientific officer and chair of BCL.

Related Links:
Broad Clinical Labs
U.S. Department of Veterans Affairs