In a U.K. study (BARCODE1) reported in The New England Journal of Medicine, McHugh et al found that screening for prostate cancer with a polygenic risk score was more accurate in diagnosis than screening with prostate-specific antigen (PSA) and magnetic resonance imaging (MRI).
Study Details
In this study, men between the ages of 55 and 69 from primary care centers were invited to participate between March and July 2019. Using germline DNA from saliva, polygenic risk scores were derived from 130 variants known to be associated with an increased risk for prostate cancer. Participants with a polygenic risk score in the 90th percentile or higher were invited to undergo prostate cancer screening with multiparametric MRI and transperineal biopsy irrespective of PSA level.
Key Findings
Among 40,292 persons invited to participate, 8,953 (22.2%) expressed interest in participating, and 6,393 had a polygenic risk score calculated; of these individuals, 745 (11.7%) had a polygenic risk score in the 90th percentile or higher and were invited to undergo screening. Among these 745 participants, 468 (62.8%) underwent MRI and prostate biopsy, with 187 (40.0%) receiving a diagnosis of prostate cancer. Median patient age at diagnosis was 64 years (range = 57–73 years).
Of the 187 participants diagnosed with cancer, 103 (55.1%) had prostate cancer classified as intermediate or higher risk, according to the 2024 National Comprehensive Cancer Network (NCCN) criteria, with treatment thus being indicated. For these 103 patients, the prostate cancer diagnostic pathway currently used in the United Kingdom (high PSA level and positive MRI results) would have missed detection of cancer in 74 (71.8).
The investigators concluded: “In a prostate cancer screening program involving participants in the top decile of risk as determined by a polygenic risk score, the percentage found to have clinically significant disease was higher than the percentage that would have been identified with the use of PSA or MRI.”
Rosalind A. Eeles, PhD, of the Oncogenetics Team at the Institute of Cancer Research, London, is the corresponding author of The New England Journal of Medicine article.
Disclosure: The study was funded by the European Research Council Seventh Framework Program and others. For full disclosures of all study authors, visit The New England Journal of Medicine.
