Identification of pathogenic germline variants in patients with prostate cancer can help inform treatment selection, screening for secondary malignancies, and cascade testing. Limited real-world data are available on clinician recommendations following germline genetic testing in patients with prostate cancer.
Patient data and clinician recommendations were collected from unselected patients with prostate cancer who underwent germline testing through the PROCLAIM trial. Differences among groups of patients were determined by 2-tailed Fisher's exact test with significance set at P < .05. Logistic regression was performed to assess the influence of test results in clinical decision-making while controlling for time of diagnosis (newly vs previously diagnosed).
Among 982 patients, 100 (10%) were positive (>1 pathogenic germline variant), 482 (49%) had uncertain results (>1 variant of uncertain significance) and 400 (41%) were negative. Patients with positive results were significantly more likely than those with negative or uncertain results to receive recommendations for treatment changes (18% vs 1.4%, P < .001), follow-up changes (64% vs 11%, P < .001), and cascade testing (71% vs 5.4%, P < .001). Logistic regression demonstrated that positive and uncertain results were significantly associated with both changes to treatment and follow-up (P < .001) when controlling for new or previous diagnosis.
Germline genetic testing results informed clinical recommendations for patients with prostate cancer, especially in patients with positive results. Higher than anticipated rates of clinical management changes in patients with uncertain results highlight the need for increased genetic education of clinicians treating patients with prostate cancer.
The Journal of urology. 2024 Aug 09 [Epub ahead of print]
Neal Shore, Christopher Pieczonka, Sean Heron, Mukaram Gazi, David Cahn, Laurence H Belkoff, Aaron Berger, Brian Mazzarella, Joseph Veys, Charles Idom, David Morris, Gautam Jayram, Alexander Engelman, Paul Dato, Richard Bevan-Thomas, David R Wise, Mary Kay Hardwick, Susan Rojahn, Paige Layman, Brandie Heald, Rachel E Ellsworth, Kathryn E Hatchell, Robert L Nussbaum, Sarah M Nielsen, Edward D Esplin
Carolina Urologic Research Center, Myrtle Beach, South Carolina., Associated Medical Professionals, Syracuse, New York., Advanced Urology Institute, St. Petersburg, Florida., University Urology Associates of New Jersey, Hamilton, New Jersey., Colorado Urology, Lakewood, Colorado., MidLantic Urology, Bala Cynwyd, Pennsylvania., Associated Urological Specialists, Chicago Ridge, Illinois., Urology Austin, Austin, Texas., North Georgia Urology, Dalton, Georgia., Urology Associates, P.C., Nashville, Tennessee., Florida Urology Partners, Cancer Center of South Tampa, St. Petersburg, Florida., Genesis Healthcare Partners, San Diego, California., Urology Partners, Arlington, Texas., Perlmutter Cancer Center, NYU Langone Health, New York, New York., Invitae Corp., San Francisco, California.