Utilization of genetic evaluation in patients with kidney cancer who meet guidelines for genetic referral

Purpose: To assess the prevalence of genetic counseling and germline genetic testing among patients diagnosed with kidney cancer (KCa) who meet national guidelines for genetic evaluation. Materials and methods: We conducted a retrospective chart review of adult patients treated between 2017 and 2022 with early onset (diagnosis at ≤ 46 years) or bilateral renal cell carcinoma. Electronic medical records were reviewed to determine rates of referral for genetic services, completion of genetic counseling, and germline genetic testing. Results: Of the 123 patients who met criteria for genetic evaluation, 42 (34%) were referred to genetic counseling, 32 (26%) completed genetic counseling, and 27 (22%) underwent germline testing. Of the 24 patients with available test results, 7 (29%) had pathogenic or likely pathogenic variants, including 2 (8%) with variants in genes associated with renal cell carcinoma. Conclusion: Despite current guidelines recommending genetic counseling for all patients with early-onset or bilateral KCa, referral rates remain low, with only one-third of eligible patients receiving a referral. However, once referred, most patients completed counseling and testing. 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 KCa.