Real-world Patterns of Genetic Testing in Urologic Malignancies: Guideline Recommendations Versus Clinical Practice.

OBJECTIVE

To analyze current utilization patterns and identify potential disparities regarding genetic testing rates among eligible patients with urologic cancers using a large national database.

METHODS

We conducted a retrospective analysis of patients diagnosed with urologic cancers between 2021 and 2024 using TriNetX. Eligibility for genetic testing was determined based on AUA and NCCN guidelines for each cancer in 2021. We assessed the proportion of eligible patients who underwent genetic testing within 1 year of diagnosis, based on ICD-10 and CPT codes.

RESULTS

Among 125,860 eligible patients, 12,713 (10.1%) underwent counseling/testing within 1 year. Disease-specific rates were as follows: kidney 9.1% (n = 8317), adrenal 8.9% (n = 11,325), upper tract urothelial carcinoma (UTUC) 16.2% (n = 3209), bladder 8.6% (n = 8131), and prostate 10.2% (n = 94,878). Patients who completed genetic testing were significantly younger across all cancer types (P < .05). By race, among eligible patients, those who completed testing were more often White compared with those who did not complete testing-kidney (68.4% vs 63.0%, P = .005), adrenal (70.0% vs 66.0%, P = .01), bladder (77.0% vs 71.0%, P = .002), and prostate (79.0% vs 72.0%, P < .001). In prostate cancer specifically, Black men were under-represented among those tested compared with those not tested (14% vs 21%, P < .001).

CONCLUSION

Despite clear guideline recommendations, genetic testing remains underutilized across urologic cancers, with significant disparities by disease type, age, and race. These results emphasize the importance of ongoing provider education, system-level support, and equity-focused strategies to enhance uptake of genetic testing in urologic oncology practice.