Journal of medical genetics · 2025
Integration of genetic counselling into a multidisciplinary urological oncology programme enhances access and detection of hereditary prostate cancer syndromes.
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Byrne Lindsey, Lewis Mckenna G, Wang Shihua, Clinton Steven K
Аннотация
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: A chart review of 2593 individuals with PCa from 2016 to 2022 was performed. Categorical data were analysed by the χ2 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.
METHODS: A chart review of 2593 individuals with PCa from 2016 to 2022 was performed. Categorical data were analysed by the χ2 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.