Veda N Giri1,2,3, Karen E Knudsen3, William K Kelly1, Heather H Cheng4, Kathleen A Cooney5, Michael S Cookson6, William Dahut7, Scott Weissman8, Howard R Soule9, Daniel P Petrylak10, Adam P Dicker11, Saud H AlDubayan12, Amanda E Toland13, Colin C Pritchard14, Curtis A Pettaway15, Mary B Daly16, James L Mohler17, J Kellogg Parsons18, Peter R Carroll19, Robert Pilarski20, Amie Blanco21, Ashley Woodson15, Alanna Rahm22, Mary-Ellen Taplin12, Thomas J Polascik23, Brian T Helfand24, Colette Hyatt25, Alicia K Morgans26, Felix Feng27, Michael Mullane28, Jacqueline Powers29, Raoul Concepcion30, Daniel W Lin31, Richard Wender32, James Ryan Mark2, Anthony Costello33, Arthur L Burnett34, Oliver Sartor35, William B Isaacs36, Jianfeng Xu24, Jeffrey Weitzel37, Gerald L Andriole38, Himisha Beltran39, Alberto Briganti40, Lindsey Byrne41, Anne Calvaresi2, Thenappan Chandrasekar2, David Y T Chen16, Robert B Den11, Albert Dobi42, E David Crawford43, James Eastham44, Scott Eggener45, Matthew L Freedman39, Marc Garnick46, Patrick T Gomella47, Nathan Handley1, Mark D Hurwitz11, Joseph Izes2, R Jeffrey Karnes48, Costas Lallas2, Lucia Languino3, Stacy Loeb49, Ana Maria Lopez1, Kevin R Loughlin50, Grace Lu-Yao1, S Bruce Malkowicz51, Mark Mann2, Patrick Mille1, Martin M Miner52, Todd Morgan53, Jose Moreno54, Lorelei Mucci55, Ronald E Myers1, Sarah M Nielsen45, Brock O'Neil56, Wayne Pinover57, Peter Pinto47, Wendy Poage58, Ganesh V Raj59, Timothy R Rebbeck55, Charles Ryan60, Howard Sandler61, Matthew Schiewer3, E Michael D Scott62, Brittany Szymaniak63, William Tester1, Edouard J Trabulsi2, Neha Vapiwala51, Evan Y Yu64, Charnita Zeigler-Johnson1, Leonard G Gomella2. 1. Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA. 2. Department of Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA. 3. Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA. 4. Department of Medicine, University of Washington, and Fred Hutchinson Cancer Research Center, Division of Clinical Research, Seattle, WA. 5. Duke University School of Medicine and Duke Cancer Institute, Durham, NC. 6. University of Oklahoma College of Medicine, Norman, OK. 7. Genitourinary Malignancies Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD. 8. National Society of Genetic Counselors, Chicago, IL. 9. Prostate Cancer Foundation, Santa Monica, CA. 10. Yale Cancer Center, New Haven, CT. 11. Department of Radiation Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA. 12. Dana-Farber Cancer Institute, Boston, MA. 13. Department of Cancer Biology and Genetics, The Ohio State University Comprehensive Cancer Center, Columbus, Ohio. 14. Department of Laboratory Medicine, University of Washington, Seattle, WA. 15. The University of Texas MD Anderson Cancer Center, Houston, TX. 16. Fox Chase Cancer Center, Philadelphia, PA. 17. Roswell Park Comprehensive Cancer Center, Buffalo, NY. 18. Moores UC San Diego Comprehensive Cancer Center, San Diego, CA. 19. Department of Urology, University of California, San Francisco, San Francisco, CA. 20. James Comprehensive Cancer Center and Department of Internal Medicine, The Ohio State University, Columbus, OH. 21. University of California, San Francisco, Cancer Genetics and Prevention Program, San Francisco, CA. 22. Center for Health Research, Genomic Medicine Institute, Geisinger, Danville, PA. 23. Duke University Medical Center, Durham, NC. 24. North Shore University Health System, Evanston, IL. 25. Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA. 26. Northwestern University, Chicago, IL. 27. Departments of Radiation Oncology, Urology, and Medicine, University of California, San Francisco, San Francisco, CA. 28. Advocate Aurora Health, Milwaukee, WI. 29. University of Pennsylvania, Basser Center for BRCA, Philadelphia, PA. 30. Integra Connect, West Palm Beach, FL. 31. University of Washington, Seattle, WA. 32. American Cancer Society, Atlanta, GA. 33. Urology at Royal Melbourne Hospital, North Melbourne, VIC, Australia. 34. Johns Hopkins Medical Institutions, Baltimore, MD. 35. Tulane University, New Orleans, LA. 36. Brady Urological Institute, Johns Hopkins Medicine, Baltimore, MD. 37. City of Hope Comprehensive Cancer Center, Duarte, CA. 38. Washington University School of Medicine, St Louis, MO. 39. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA. 40. Unit of Urology, Division of Oncology, Urological Research Institute, IRCCS Ospedale San Raffaele, Milan, Italy. 41. The Ohio State University, Columbus, OH. 42. Henry Jackson Foundation for the Advancement of Military Medicine, Center for Prostate Disease Research, Department of Surgery, Uniformed Services University and the Walter Reed National Military Medical Center, Bethesda, MD. 43. University of California, San Diego, La Jolla, CA. 44. Memorial Sloan Kettering Cancer Center, New York, NY. 45. University of Chicago, Chicago, IL. 46. Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA. 47. National Cancer Institute, National Institutes of Health, Bethesda, MD. 48. Mayo Clinic, Rochester, MN. 49. Department of Urology and Population Health, New York University and Manhattan Veterans Affairs, New York, NY. 50. Harvard Medical School, Boston, MA. 51. University of Pennsylvania, Philadelphia, PA. 52. Brown University, Providence, RI. 53. University of Michigan, Ann Arbor, MI. 54. Midlantic Urology, Phoenixville, PA. 55. Department of Epidemiology, Harvard TH Chan School of Public Health, Boston MA. 56. University of Utah, Huntsman Cancer Institute, Salt Lake City, UT. 57. Abington-Jefferson Hospital, Abington, PA. 58. Prostate Conditions Education Council, Elizabeth, CO. 59. University of Texas Southwestern Medical Center at Dallas, Dallas, TX. 60. University of Minnesota and Masonic Cancer Center, Madison, WI. 61. Cedars-Sinai Medical Center, Los Angeles, CA. 62. Prostate Cancer International, Virginia Beach, VA. 63. Northwestern Medical Group, Urology Department, Chicago, IL. 64. University of Washington and Fred Hutchinson Cancer Research Center, Seattle, WA.
Abstract
PURPOSE: 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. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
PURPOSE: 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. METHODS: 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). RESULTS: 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. CONCLUSION: 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.
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