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

Abstract

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.