Under-Utilization, Disparities in Genetic Testing for Patients With RCC

A study led by Dr. Elizaveta Makarova, of the Pennsylvania State College of Medicine, highlighted the under-utilization of and racial disparities in genetic testing for patients with renal cell carcinoma (RCC) who meet the genetic referral criteria.

The study was presented at the 2023 International Kidney Cancer Symposium: North America.

Genetic testing is a beneficial tool for patients with RCC. The discovery of a pathogenic germline variant plays an important role in the treatment of patients and their at-risk family members.

Dr. Makarova and colleagues set out to analyze the rate of genetic testing in patients with RCC who met the genetic referral criteria. They also evaluated for disparities in genetic testing.

Researchers collected the data of adults older than 18 years with RCC from the Penn State Health (PSH) and US Collaborative Network (USCN) datasets. The genetic evaluation criteria included patients with early-onset RCC who were diagnosed at 46 years or younger and who had bilateral RCC. Investigators defined genetic evaluation as genetic counseling or testing in accordance with current procedural terminology codes.

The study found that early-onset and bilateral RCC rates were similar at PSH and USCN. Patients at PSH underwent genetic testing more than patients at USCN (17% vs 4%; P<.001). Researchers also found that patients with early-onset RCC underwent genetic testing more often than those with bilateral RCC at both PSH (22% vs 7%; P=.0002) and USCN (4% vs 3%; P=.0007).

Of the patients at USCN, higher rates of genetic counseling were correlated with younger diagnosis age (P<.0001), White race (P<.0001), non-Hispanic ethnicity (P<.0001), and female gender (P<.0001).

Researchers concluded that of the patients evaluated, 4% of those matching the genetic evaluation guideline underwent genetic counseling, while 1% underwent genetic testing.

Dr. Makarova and colleagues also raised concerns about racial disparities in genetic testing for patients with RCC. “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 kidney cancer,” they wrote.