Clinical translation of polygenic scores for prostate cancer screening.

Abstract

Interest in using polygenic scores (PGS) to improve the risk stratification for and early detection of prostate cancer is considerable. Despite the absence of clinical guidelines for the use of prostate cancer PGS in patient care, existing and emerging standards for the clinical translation and reporting of genetic testing generally and PGS specifically provide a relevant framework to help guide these efforts. This framework is intended to harmonize advances in the development of PGS clinical assays and standardization of PGS reporting in the context of prostate cancer PGS specifically. The analytical and clinical validity of prostate cancer PGS have been progressively refined, but evidence firmly establishing clinical utility beyond modelling studies is still lacking. Standardized approaches for designing, explaining and reporting prostate cancer PGS are key to accelerating clinical implementation in a manner that would increase access to the benefits of precision prostate cancer screening to patients across ancestry backgrounds.