Understanding the utilization of genetic counseling and testing among patients with prostate cancer.

OBJECTIVES

Prostate cancer (PCa) progression is influenced by a myriad of germline and/or somatic variants estimated to occur in 4.6%-11.8% of patients. Identified pathogenic variants may carry implications for treatment selection and prognosis. Despite the importance of genetic testing, referrals to counselling remain underutilized by urologists. This study aimed to understand referral patterns, testing uptake, and genetic results among men with PCa at a single large academic center.

METHODS

Records from 2010 to 2022 at Emory University were reviewed to identify men undergoing prostate biopsy and subsequent genetic counselling (CPT 96040). Referrals were confirmed as PCa-related and assessed against contemporaneous National Comprehensive Cancer Network (NCCN) criteria. Referral origin, genetic testing completion rates, and results were collected. Descriptive statistics summarized relevant results.

RESULTS

Of the 6995 prostate biopsies performed over the study period, only 70 of these patients saw a genetic counselor, of whom 49/70 (70%) were referred for PCa between 2010 and 2022, all meeting contemporary criteria for testing. Indications included high-risk disease (36.7%), metastatic disease at presentation (20.4%), and family history/ancestry (42.9%). Referrals increased from 0 prior to 2015 to 12 in 2022. Most originated from medical oncology (44.9%) or self-referral (12.2%), with urologists accounting for only 6.1%. Of those referred, 45 (91.8%) underwent genetic testing; 62.2% had negative results, 24.4% variants of unknown significance (VUS), and 4.4% tested positive for PCa-related pathogenic variants.

CONCLUSIONS

Although referrals increased over time with guideline evolution, urologists accounted for a minority of referrals. While most results were negative or uncertain, pathogenic variants likely carried therapeutic significance. Addressing barriers to referral and improving integration of genetic services into urologic practice may help improve PCa care.