Dr Maxwell on a Study of Genetic Testing in Metastatic Prostate Cancer

Kara N. Maxwell, MD, PhD, assistant professor of medicine (hematology-oncology), Department of Medicine, Perelman School of Medicine, University of Pennsylvania, discusses a study of genetic testing results for patients with metastatic prostate cancer.

The study included cohorts of patients with metastatic prostate cancer in a point-of-care model at Basser Center of Penn Medicine, as well as patients from a cancer genetics practice at the Corporal Michael Crescenz VA Medical Center in Philadelphia. Maxwell and colleagues sought to evaluate the rates of pathogenic germline variants in the context of broader, more diverse patient populations.

Various institutions have implemented different models to streamline genetic testing processes, Maxwell says. Notably, some have integrated nurses into oncology programs to facilitate this testing.

Findings presented at the 2024 AACR Annual Meeting showed that despite differences in the racial breakdowns of each cohort of patients, the prevalence of pathogenic germline variants associated with prostate cancer remained consistent across the cohorts, Maxwell explains. This finding underscores the uniformity of mutation rates across diverse racial groups, challenging previous assumptions regarding racial disparities in genetic mutation prevalence, she continues.

However, difference in rates of variants of uncertain significance were observed, correlating with the racial diversity of each cohort. This suggests that although pathogenic mutation rates appeared to remain consistent, the significance and interpretation of genetic variants may differ among populations, Maxwell explains. Nonetheless, the study underscores the importance of genetic testing for all patients with metastatic prostate cancer and its potential to inform personalized treatment approaches.

By analyzing a cohort of 1000 individuals with metastatic prostate cancer, the study provides a comprehensive population-level perspective on genetic testing, Maxwell says. These data can help enrich the understanding of mutation prevalence beyond traditionally high-risk populations, offering insights into broader demographic representations, she concludes.