As an alternative to the dosage of PSA, which remains associated with a significant rate of false positives for prostate cancer screening, the English study Barcode1 reports the performance of an alternative method, based on the calculation of a polygenic risk score (1).
Beyond the risk factors for long-standing identified (age, family history of prostate cancer, etc.), recent genomic studies suggest a role of genetic variants in the development of the disease. These variants are shared by many patients.
In this work, from 6,393 men aged 55 to 69 recruited from British primary care centers, a salivary sample was used to establish a polygenic risk score (out of 130 known variants) and analyze its correlation at the risk of developing prostate cancer (1).
In the event of a high score (in the 90e percentile or more), an MRI and a transpered biopsy were offered.
More cases identified
In practice, almost 12 % of the workforce, or 745 patients, presented a high score. And a little less than two thirds of these patients at high risk (n = 468) have done the recommended additional examinations.
Prostate cancer was identified in 187 of participants (64 years of median age) – 40 % of those who carried out MRI and biopsy. For more, half (n = 103), treatment was indicated, due to lesions considered as an intermediate or high risk, according to the NCCN criteria of 2024. “Cancer thus highlighted would not have been detected in more than 70 % of these participants with the course Currently used in the United Kingdom (high PSA and positive MRI) »insists the publication.
Non -generalized results to the most risky men?
These conclusions have aroused a number of expert reactions, certainly generally enthusiastic, but which are a few limits to this study. Starting with its population, potentially not very representative of the patients most at risk of prostate cancer, in particular individuals with non-European ancestors, in particular Afro-Caribaean, known to present a prostate cancer overcrowding, and with whom this score could present lower performance, for lack of genomic data in this audience.
Before thinking of deploying it, this score should also dismantle its effect on mortality and the quality of long -term life, specify the support of patients to a screening based on such a method … and its cost/efficiency ratio, knowing that these polygenic tests remain expensive. It would also be necessary to determine its place in relation to MRI and the dosage of the PSA in the screening strategy. This new tool could possibly complete, more than replacing other methods.
(1) Jana K. et al. Assessment of a Polygenic Risk Score in Screening for Prostate Cancer. New England Journal of Medicine. N Engl J Med 2025;392:1406-1417. Published April 9, 2025
