Implementing and Optimizing Universal Germline Genetic Testing for Patients With Prostate Cancer in Clinical Practice

To advocate for universal germline genetic testing (UGGT) in prostate cancer and provide practical recommendations for its implementation.

Although guidelines for germline genetic testing in prostate cancer have progressed, usage remains limited and inconsistent due to barriers including access, cost, and variable guideline adherence. These issues prevent some patients with germline pathogenic/likely pathogenic variants from benefiting from risk assessment, precision therapies (eg, PARP inhibitors, PD-1 inhibitors), and potential clinical trials. Despite these benefits, studies indicate that germline genetic testing use remains low, especially in prostate cancer care. The PROCLAIM trial (Shore et al, 2023) highlighted that nearly half of patients with pathogenic variants are missed under National Comprehensive Cancer Network guidelines, particularly impacting non-white patients and those with incomplete family history data. Additional racial and socioeconomic disparities further hinder access and variant interpretation accuracy. Given these challenges, UGGT for all prostate cancer patients has been proposed to improve care equity and decision-making. In March 2024, prostate cancer experts convened to discuss strategies for UGGT implementation.

The outcome of that meeting includes recommendations for integrating UGGT into oncology and urology practices and have been outlined in this paper.

To maximize the benefits while mitigating the potential risks of UGGT, it is essential to address implementation details, including careful gene panel selection, variants of uncertain significance reporting and management, appropriate genetics follow-up, and seamless integration of test reports into electronic medical records for accessibility by patients and providers.