21: Disparities in Utilization of Genetic Evaluation in Patients with Kidney Cancer Who Meet Guidelines for Genetic Referral

Background: Genetic evaluation plays an important role in the management of patients with kidney cancer (KCa). The implication of finding a pathogenic germline variant directly impacts patient management and the care of their at-risk family members. This study aimed to evaluate the rate of and barrier to genetic evaluation in patients with KCa who meet criteria for genetic referral.

Methods: We queried the Penn State Health (PSH) and US Collaborative Network (USCN) datasets from TriNetX. We included adults  18 years of age with ICD-10 diagnosis code of KCa between 01/01/2017 to 01/01/2022. A total of 1,690 and 101,809 patients were identified with diagnosis of KCa from PSH and USCN, respectively. Patients meeting genetic evaluation criteria included those with (1) early age of onset defined as ≤46 years of age at diagnosis, or (2) bilateral KCa. Genetic evaluation was defined as genetic counseling or genetic testing based on CPT codes.

Results: The rates of early onset and bilateral KCa were comparable between the two cohorts. Significantly more patients underwent genetic counseling (17% vs 4%, p< 0.001) at PSH compared to USCN. More patients with early onset KCa underwent genetic evaluation than those with bilateral KCa at PSH (22% vs 7%, p=0.0002) and in the USCN cohort (4% vs 3%, p=0.0007). Factors associated with higher rate of genetic counseling in the USCN cohort include younger age at diagnosis (p < 0.0001), white race (p < 0.0001), non-Hispanic ethnicity (p < 0.0001), and female gender (p < 0.0001).

Conclusions: Only 4% of patients meeting guidelines for genetic evaluation received genetic counseling and only 1% underwent genetic testing. Findings from this study highlight significant under-utilization of and racial disparity in genetic evaluation, thereby limiting access to equitable precision oncology, in patients with KCa.