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Guideline Updates

Consensus Recommendations for Germline Testing in Prostate Cancer

June 15, 2020

A session entitled “Implementation of Germline Testing for Prostate Cancer” held at the Philadelphia Prostate Cancer Consensus Conference in 2019 provided novel recommendations for genetic testing.

Germline testing is crucial to prostate cancer treatment, management, and hereditary cancer assessment. However, to address the increasing demand for genetic services, there is a need for further optimized multigene testing strategies that incorporate evolving genetic data, consistency in germline testing indications and management, and alternate genetic evaluation models.

A multidisciplinary group was convened in response to current practice challenges to develop a genetic implementation framework. The resulting framework included criteria with strong agreement (> 75%) or moderate agreement (50% to 74%). The terms “recommend” and “consider,” respectively, were used in the framework to categorize testing strategies that fit these levels of criteria.

The framework was published in the Journal of Clinical Oncology (online June 9, 2020; doi:10.1200/JCO.20.00046).

Large germline panels and somatic testing are recommended for metastatic prostate cancer. Reflex testing, which includes initial testing for priority genes followed by expanded testing, is suggested for multiple scenarios. Metastatic disease or family history that is suggestive of hereditary prostate cancer is recommended for germline testing, and additional family history and pathologic criteria also gained moderate consensus.

Among the priority genes listed to test for metastatic disease were BRCA2, BRCA1, and mismatch repair genes – with broader testing for genes such as ATM for clinical trial eligibility. Additionally, the framework recommends screening that starts at age 40 years or 10 years before the youngest prostate cancer diagnosis in a family for BRCA2 carriers, with consideration in HOXB13, BRCA1, ATM, and mismatch repair carriers.

Furthermore, the genetic evaluation framework included optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches.

“The framework, which importantly had input from NCCN panel leaders, provides guidance to a spectrum of providers to facilitate timely and responsible prostate cancer germline testing for the benefit of men and their families,” authors of the framework concluded.—Zachary Bessette

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