Time for Universal Genetic Testing in Genitourinary Cancers

TOPLINE:

Universal testing for pathogenic germline variants in patients with genitourinary cancers identifies potentially actionable variants that may be missed with guideline-based testing, new research showed.

METHODOLOGY:

• Selecting patients for genetic testing has historically been highly selective and based on pathologic characteristics, family history, and age of diagnosis. But pathogenic germline variants have become increasingly important in managing genitourinary cancers, as more targeted therapies emerge.
• To assess the potential value of a universal screening strategy, researchers investigated the prevalence of pathogenic germline variants in 80+ inherited cancer susceptibility genes among patients with genitourinary malignancies at three Mayo Clinic sites.
• The researchers used National Comprehensive Cancer Network genitourinary germline genetic testing guidelines to determine whether a patient had an incremental finding — defined as pathogenic germline variants that would not have been identified based on guideline-concordant germline genetic testing.

TAKEAWAY:

• Among 3095 patients with cancer enrolled in the study, 601 had genitourinary cancer — 358 had prostate cancer, 137 had renal cancer, and 106 had bladder cancer.
• The prevalence of pathogenic germline variants was 13.7% in prostate cancer, 13.1% in renal cancer, and 14.2% in bladder cancer.
• Incremental pathogenic germline variants were identified in 57% (n = 8) of patients with prostate cancer, nearly 78% (n = 14) of those with renal cancer, and 100% of patients with bladder cancer.

IN PRACTICE:

“Our findings support universal germline testing for [genitourinary] malignancies and its potential to enhance risk assessment and guide precision interventions in urologic oncology,” the researchers concluded.

SOURCE:

The study, with first author Mouneeb Choudry, MD, Department of Urology, Mayo Clinic Arizona, Phoenix, Arizona, was presented in a poster at the 2024 American Society of Clinical Oncology Genitourinary Cancers Symposium.

LIMITATIONS:

The abstract did not list limitations.

DISCLOSURES:

The study had no specific funding. Choudry had no relevant disclosures.