The Value of Genetic Testing Guidelines in Prostate Cancer

A study assessed the prevalence of pathogenic/likely pathogenic (P/LP) germline genetic variants in patients with prostate cancer (PCa) who did and did not meet the NCCN 2019 PCa germline genetic testing criteria.

The study enrolled patients from 15 community and academic urologists across the country. Patients were eligible for inclusion if they were diagnosed with PCa who had not been previously tested, regardless of personal or family history, stage, or histology; they underwent an 84-gene germline panel test.

At the time of data cutoff, 640 patients had genetic testing results available; 69 patients had 7 P/LP variants detected, of which 15% were in BRCA1/2.

There were 532 patients with clinician-reported data, of whom just over half met NCCN criteria (55%), but 45% did not. Of the patients with clinician-reported data, 59 had a P/LP variant; of the patients who did and did not meet NCCN criteria, 12.3% and 9.6%, respectively, had a P/LP variant. This difference was not statistically significant (P=0.33).

“If only a conservative 12-gene PCa panel was considered, P/LP yield was 5.5% (29/532), with 8 (28%) of these patients missed by guidelines,” the study authors noted.

“There was no statistically significant difference in the yield of P/LP variants between patients who met and those who did not meet NCCN PCa guidelines, reinforcing that a significant number of P/LP variants are missed if NCCN guidelines are required for genetic testing,” they summarized.