Genetic Testing: Utility Through the Disease Life Cycle

How to cite: Helfand BT. Genetic Testing: Utility Through the Disease Life Cycle. Grand Rounds in Urology. February 2026. Accessed Apr 2026. https://grandroundsinurology.com/genetic-testing-utility-through-the-disease-life-cycle/

Summary

Brian T. Helfand, MD, PhD, Chief of Urology, Endeavor Health, Evanston, Illinois, reviews how germline and tumor genomic testing inform clinical decision making across the prostate cancer disease life cycle.

Dr. Helfand distinguishes between germline testing and somatic tumor testing and explains how each contributes to understanding inherited risk, disease biology, and potential treatment strategies. Germline testing evaluates inherited variants that are present in every cell. These variants may help explain familial patterns of prostate cancer and may identify individuals with increased susceptibility to disease. He also reviews polygenic risk scores that combine multiple genetic variants to estimate inherited risk. These scores may help stratify individuals by the likelihood of developing prostate cancer and contribute to risk-based screening strategies.

Dr. Helfand addresses how genetic findings influence management in men with diagnosed prostate cancer. He discusses tumor genomic profiling in advanced disease, where sequencing tumor tissue can identify somatic alterations that inform therapeutic decisions.

Throughout the prostate cancer disease life cycle, genetic information may help clinicians identify patients at higher inherited risk, understand tumor biology, and guide individualized care strategies. Dr. Helfand emphasizes the growing role of genomic information in prostate cancer care and the importance of integrating genetic testing into contemporary clinical pathways.

The International Prostate Cancer Update (IPCU), is a multi-day, CME-accredited conference focused on new developments in prostate cancer treatment, diagnosis, and prevention. IPCU 36 featured lectures, interactive discussions, panel roundtables, debates, and case reports. This conference is led by expert physicians and is designed for urologists, medical oncologists, radiation oncologists, and other healthcare professionals involved in the diagnosis and treatment of prostate cancer.
The goal of this educational program is to equip healthcare professionals involved in the diagnosis and treatment of prostate cancer with the up-to-date clinical knowledge and tools they need to best treat their patients. The program will discuss the treatment of prostate cancer from diagnosis to treating advanced and metastatic disease. The conference aims to give physicians exposure to a comprehensive review of treating prostate cancer patients and to give them a chance to discuss the issues with peers and experts.