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Plenary 5: BRCA1/2 gene testing gearing up for prime time

A case-based debate with some of the biggest names in onco-urology revealed that BRCA1/2 testing is entering the phase that it is nearly suitable for prime time. Even Prof. Freddie Hamdy (GB), who was invited to argue against its suitability in the short term found it difficult to disagree with the arguments of his opponent, Dr. Peter Nelson (US). Instead, Prof. Hamdy settled for ‘some reflections’ and his experiences with the tests.

This case debate formed part of the fifth Plenary Session, one that was devoted to the best on precision medicine. The session took place on the morning of the fourth day of EAU18, the 33rd Annual EAU Congress. Other topics and speakers included Prof. Jack Schalken (NL) on urinary precision markers for the decision-making in PCa, a case-based debate on PSMA PET-CT, a presentation of the results of the POUT trial, and the SIU Lecture by Dr. Peter Black (CA) on precision oncology for urothelial carcinoma.

Achilles heel
Dr. Nelson thanked the debate moderator Prof. George Thalmann (CH) “for stacking the deck in my favour” with his case of a 57 year-old patient whose uncle had prostate cancer. The patient, after one routine check-up at age 50, later presented with lower back pain and a PSA level of 346 ng/ml. Thalmann then showed how the patient’s relatives were informed and made decisions to be screened for breast or prostate cancer, in some cases leading to detection of disease. The patient’s children, however, refused testing.

Nelson fired off 10 points in favour of BRCA1/2 testing before treatment of mCRPC, including the patient’s increased risk for other malignancies like male breast cancer, pancreatic cancer and skin melanoma; the at risk male and female family members who carry the gene and might benefit from early detection or even prevention; and a reference to the latest National Comprehensive Cancer Network Guidelines.

Hamdy agreed with all of Nelson’s points, instead pointing to some of the difficulties for patients that should be borne in mind. “The patient wants to know how bad the disease is, if it is going to kill him, what the best treatment combinations are, what the effects are, and if he has direct male relatives, how they can be counselled. Genetic testing can be useful in answering each of these questions.” He also made the point that genomic diversity remained the Achilles’ heel, an expression that would come back more than once in Plenary Session 5.

Prof. Hamdy shared the results of the Philadelphia Prostate Cancer Consensus Conference 2017 and listed some key remaining questions. “Will we advise germline testing for BRCA genes only, or other aberrations? Will we advise testing for somatic aberrations? And how will the results affect immediate treatment advice, treatment failures and family genetic counselling and ethics?”

In the discussion that followed, Hamdy nevertheless emphasised that sequencing costs are coming down dramatically to an affordable cost, and needs to be introduced. “Men can help their female family members.”

By Loek Keizer