The role of genetic testing in prostate cancer is rapidly evolving. A substantial proportion of men with prostate cancer carry inherited genetic mutations in cancer risk genes, with estimates as high as 15% in men with metastatic castration resistant disease. The National Comprehensive Cancer Network (NCCN) has expanded genetic testing guidelines for men with prostate cancer spanning all risk categories, which followed the first international consensus conference that addressed comprehensive genetic evaluation of men with prostate cancer (1). NCCN genetic evaluation criteria merged from the NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2019) (2) and NCCN Prostate (Version 4.2018)(3) guidelines include consideration of germ line genetic testing in men with a diagnosis of prostate cancer with the following characteristics:

• Metastatic prostate cancer, especially with metastatic castrate resistant prostate cancer (mCRPC)
• High-risk of locally advanced/regional disease
• Very low risk–to-unfavorable intermediate risk disease with any one of the following:
  • Brother, father, or multiple male relatives diagnosed with prostate cancer < 60 years
  • Family history suggestive of Hereditary Breast and Ovarian Cancer syndrome (HBOC): >1 relative with breast, ovarian, or pancreatic cancers
  • Family history suggestive of Lynch Syndrome: >1 relative with colorectal, endometrial, ovarian, gastric, small bowel, upper tract urothelial carcinoma (UTUC), bile duct cancers
• Gleason > 7 (Grade group > 2) with any one of the following:
  • Family history: > 1 close blood relative with ovarian, pancreatic, metastatic prostate cancer, breast cancer<50
  • Family history: > 2 close blood relatives with breast or prostate cancer (any grade) at any age
  • Ashkenazi Jewish ancestry
• BRCA mutations in solid tumor profiling

These NCCN guidelines endorse genetic counseling before and after genetic testing so that men can make an informed decision regarding genetic testing, understand their results, appropriately follow recommendations, and inform family members about inherited cancer risk syndromes who may be eligible for cascade testing. While there is evidence that certain mutations are associated with greater response to chemotherapy, PARP inhibition, and/or immunotherapy in mCRPC, it remains to be determined how (and whether) the presence of a germline mutation should impact patient management in earlier stage disease. In the future additional studies should address the use of genetic testing in guiding treatment decisions.

The SUO supports genetic testing of men with prostate cancer meeting the NCCN criteria as noted. As the field of genetic testing grows in informing management and treatment of prostate cancer across the risk and stage spectrum, a greater number of men with prostate cancer will need to consider genetic testing.

The SUO endorses the need for appropriate genetic counseling for men with prostate cancer before and after genetic testing as a central concept. This should also include considering the needs of the patient’s family as well. The SUO also recognizes the growing need to streamline genetic testing in urologic practice. The SUO recommends that urologists and other prostate cancer specialists increase their understanding of the role of genetic testing in this disease and develop collaborations with cancer genetic specialists and genetic counselors for optimal care of their patients with prostate cancer.

1. Giri et al. J Clin Oncol. 2018 Feb 1;36(4):414-424.
2. NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian (Version 2.2019) https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed November 24, 2018)
3. NCCN Prostate (Version 4.2018), https://www.nccn.org/professionals/physician_gls/default.aspx (Accessed November 24, 2018)