Although current guidelines recommend genetic counseling for all patients with early-onset or bilateral renal cell carcinoma (RCC), only 34% of eligible patients received a referral, according to findings from a recent study published in the Urologic Oncology.1
In a recent interview with Urology Times®, senior author Hong Truong, MD, MS, broke down the key findings from the study. Truong is a urologic oncologist at Memorial Sloan Kettering Cancer Center in New York, New York.
For the study, the investigators assessed data from 123 adult patients who received treatment for early-onset (46 years or younger) or bilateral RCC between 2017 and 2022. All patients included in the analysis met the criteria for genetic evaluation.
Among all patients, 34% (n = 42) were referred for genetic counseling, 26% (n = 32) completed genetic counseling, and 22% (n = 27) underwent germline testing. In total, 24 patients had available genetic test results. Of those, 29% (n = 7) were found to have pathogenic or likely pathogenic variants, which included 2 patients (8%) who had variants in genes known to be associated with RCC.
According to the authors, “These findings underscore a critical gap in the implementation of genetic evaluation guidelines and highlight opportunities to improve access and streamline referral pathways for patients with [kidney cancer].”
REFERENCE
1. Makarova E, Bakhl K, Demirsoy S, et al. Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral. Urol Oncol. 2025:S1078-1439(25)00238-8. doi:10.1016/j.urolonc.2025.06.009