2025/06/18 by Lindsey Byrne, Mckenna G Lewis, M. Jane Lewis +3
Biochemistry, Genetics and Molecular Biology · Medicine · #BRCA gene mutations in cancer #Prostate Cancer Diagnosis and Treatment #Prostate Cancer Treatment and Research
paper · doi:10.1136/jmg-2025-110755
BACKGROUND: Advances in prostate cancer (PCa) research have revealed dozens of genetic markers for inherited risk. Germline genetic testing (GGT) enhances patient care by guiding therapeutic decisions and promoting screening and surveillance for men and their families. We evaluated the impact of embedding a genitourinary (GU) specialised genetic counsellor (GC) into a multidisciplinary GU clinic on counselling referrals, genetic risk assessment and GGT uptake for men with PCa. METHODS: test and predictors were identified by logistic regression. RESULTS: Prior to the integration of a GU GC (2016-2018), 39 men were referred for genetic counselling (2%), which increased to 368 men (14%) during 2019-2022. During the pre-embedment period, GGT was completed in 9 out of 39 (23%) referrals, whereas GGT was completed in 235 out of 368 referrals (64%) in the postembedment period. Individuals with a younger age (p<0.0001), family history of PCa (p<0.0001), higher Gleason Score (p<0.0001), more advanced clinical stage (p<0.0001), metastatic disease (p<0.0001), and meeting National Comprehensive Cancer Network guidelines for prostate GGT (p<0.0001) were more likely to be referred. Forty-one tested positive for one or more pathogenic or likely pathogenic variants (17%). CONCLUSIONS: The integration of a GC dramatically increased referrals, and a greater proportion of individuals proceeded with GGT. Future studies will analyse barriers and factors promoting referrals so that individuals and their families benefit from evidence-based treatment and early detection and prevention options.