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Prostate cancer is one of the most heritable tumours and up to 60% of the individual risk has been attributed to genetic factors. [1] Providers involved in the care of patients with prostate cancer should consider referring appropriate patients for genetic counselling, to help them understand and adapt to the medical, psychological and familial implications of the increased risk of disease.

Genetic counselling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. The components of the genetic counselling process include: informed consent, contracting, obtaining medical history and current disease information, risk assessment, genetic testing, education and psychosocial support. [2]
The EuroGentest2 project has suggested guidelines for quality in genetic counselling for pre-symptomatic testing. [3] The objectives of genetic counselling for unaffected family members are 1) helping the patient in making their own decision about testing by giving information and supporting exploration of the context and consequences of the decision and 2) providing the opportunity for self-management regarding health care, personal wellbeing and adjustment, reproduction and family communication.

Multidisciplinary guidance on the implementation of collaborative models between health care providers and genetic counsellors is lacking. A number of collaborative strategies may facilitate genetic evaluation of patients with prostate cancer. The Philadelphia Prostate Cancer Consensus Conference 2019 proposed models of collaboration for timely genetic testing with appropriate pre-test informed consent and comprehensive evaluation. [4]

Models of collaboration between genetics and health care practices for prostate cancer genetic evaluation

Genetic Counselling

FH, family history; GC, genetic counselling; VUS, variant of uncertain significance.
(Adapted from Giri et al. [4])

As PARP inhibitors become more available and accessible, the paradigms for genetic counselling may change. Tests could be offered at initial diagnosis; in addition, videos could be used to deliver pre-test informed consent and counselling conducted via telephone versus in-person. [4] In addition, mainstreaming genetic testing, whereby a member of the oncology team (rather than a genetic specialist) is responsible for counselling, consenting, and arranging genetic testing for cancer patients may be considered. Shortages of trained genetic counsellors and training for mainstreaming genetic testing need to be addressed.


[1] Mucci LA, Hjelmborg JB, Harris JR, et al. Familial risk and heritability of cancer among twins in Nordic countries. JAMA. 2016;315(1):68-76.

[2] Shannon KM, Patel D. Principles of cancer genetic counseling and genetic testing. in: principles of clinical cancer genetics: a handbook from the Massachusetts General Hospital. Ed’s Chung DC, Haber DA. Springer US; 2010.

[3] Skirton H, Goldsmith L, Jackson L, Tibben A. Quality in genetic counselling for presymptomatic testing--clinical guidelines for practice across the range of genetic conditions. Eur J Hum Genet. 2013 Mar;21(3):256-260

[4] Giri VN, Knudsen KE, Kelly WK, et al. Implementation of germline testing for prostate cancer: Philadelphia Prostate Cancer Consensus Conference 2019. J Clin Oncol. 2020 Aug 20;38(24):2798-2811.

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