Germline testing and genetic counselling in prostate cancer

Abstract

Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by precision medicine. Rates of germline pathogenic variants have been reported in up to 15% of men with prostate cancer, particularly in metastatic disease, and results of genetic testing could uncover options for precision therapy along with a spectrum of hereditary cancer-predisposition syndromes with unique clinical features that have complex management options. Thus, the pre-test discussion, whether delivered by genetic counsellors or by health-care professionals in hybrid models, involves information on hereditary cancer risk, extent of gene testing, purpose of testing, medical history and family history, potential types of results, additional cancer risks that might be uncovered, genetically based management and effect on families. Understanding precision medicine, personalized cancer risk management and syndrome-related cancer risk management is important in order to develop collaborative strategies with genetic counselling for optimal care of patients and their families.

Fig. 1. Genetic evaluation process for patients with or at risk of developing prostate cancer.

The process and elements involved in pre-test counselling and informed consent, genetic testing and post-test disclosure. Special considerations in each step in the process and unique clinical and psychosocial concerns that can influence decision-making are shown. ADT, androgen-deprivation therapy; GINA, Genetic Information Nondiscrimination Act; VUS, variants of uncertain significance.