Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019
Authors: Veda N. Giri, Karen E. Knudsen, William K. Kelly, Heather H. Cheng, Kathleen A. Cooney, Michael S. Cookson, William Dahut, Scott Weissman, Howard R. Soule, Daniel P. Petrylak, Adam P. Dicker, Saud H. AlDubayan, Amanda E. Toland, Colin C. Pritchard, Curtis A. Pettaway, Mary B. Daly, James L. Mohler, J. Kellogg Parsons, Peter R. Carroll, Robert Pilarski, Amie Blanco, Ashley Woodson, Alanna Rahm, Mary-Ellen Taplin, Thomas J. Polascik, Brian T. Helfand, Colette Hyatt, Alicia K. Morgans, Felix Feng, Michael Mullane, Jacqueline Powers, Raoul Concepcion, Daniel W. Lin, Richard Wender, James Ryan Mark, Anthony Costello, Arthur L. Burnett, Oliver Sartor, William B. Isaacs, Jianfeng Xu, Jeffrey Weitzel, Gerald L. Andriole, Himisha Beltran, Alberto Briganti, Lindsey Byrne, Anne Calvaresi, Thenappan Chandrasekar, David Y. T. Chen, Robert B. Den, Albert Dobi, E. David Crawford, James Eastham, Scott Eggener, Matthew L. Freedman, Marc Garnick, Patrick T. Gomella, Nathan Handley, Mark D. Hurwitz, Joseph Izes, R. Jeffrey Karnes, Costas Lallas, Lucia Languino, Stacy Loeb, Ana Maria Lopez, Kevin R. Loughlin, Grace Lu-Yao, S. Bruce Malkowicz, Mark Mann, Patrick Mille, Martin M. Miner, Todd Morgan, Jose Moreno, Lorelei Mucci, Ronald E. Myers, Sarah M. Nielsen, Brock O’Neil, Wayne Pinover, Peter Pinto, Wendy Poage, Ganesh V. Raj, Timothy R. Rebbeck, Charles Ryan, Howard Sandler, Matthew Schiewer, E. Michael D. Scott, Brittany Szymaniak, William Tester, Edouard J. Trabulsi, Neha Vapiwala, Evan Y. Yu, Charnita Zeigler-Johnson, Leonard G. Gomella
Journal: Journal of Clinical Oncology (2020)

Germline testing (GT) is a central feature of prostate cancer (PCA) treatment, management, and hereditary cancer assessment. Critical needs include optimized multigene testing strategies that incorporate evolving genetic data, consistency in GT indications and management, and alternate genetic evaluation models that address the rising demand for genetic services. A multidisciplinary consensus conference that included experts, stakeholders, and national organization leaders was convened in response to current practice challenges and to develop a genetic implementation framework. Evidence review informed questions using the modified Delphi model. The final framework included criteria with strong (> 75%) agreement (Recommend) or moderate (50% to 74%) agreement (Consider). Large germline panels and somatic testing were recommended for metastatic PCA. Reflex testing-initial testing of priority genes followed by expanded testing-was suggested for multiple scenarios. Metastatic disease or family history suggestive of hereditary PCA was recommended for GT. Additional family history and pathologic criteria garnered moderate consensus. Priority genes to test for metastatic disease treatment included BRCA2, BRCA1, and mismatch repair genes, with broader testing, such as ATM, for clinical trial eligibility. BRCA2 was recommended for active surveillance discussions. Screening starting at age 40 years or 10 years before the youngest PCA diagnosis in a family was recommended for BRCA2 carriers, with consideration in HOXB13, BRCA1, ATM, and mismatch repair carriers. Collaborative (point-of-care) evaluation models between health care and genetic providers was endorsed to address the genetic counseling shortage. The genetic evaluation framework included optimal pretest informed consent, post-test discussion, cascade testing, and technology-based approaches. This multidisciplinary, consensus-driven PCA genetic implementation framework provides novel guidance to clinicians and patients tailored to the precision era. Multiple research, education, and policy needs remain of importance.