Germline genetic testing (GT) is recommended for men with prostate cancer (PC), but testing through traditional models is limited. The ProGen study examined a novel model aimed at providing access to GT while promoting education and informed consent.
Men with potentially lethal PC (metastatic, localized with a Gleason score of ≥8, persistent prostate-specific antigen after local therapy), diagnosis age ≤55 years, previous malignancy, and family history suggestive of a pathogenic variant (PV) and/or at oncologist's discretion were randomly assigned 3:1 to video education (VE) or in-person genetic counseling (GC). Participants had 67 genes analyzed (Ambry), with results disclosed via telephone by a genetic counselor. Outcomes included GT consent, GT completion, PV prevalence, and survey measures of satisfaction, psychological impact, genetics knowledge, and family communication. Two-sided Fisher's exact tests were used for between-arm comparisons.
Over a 2-year period, 662 participants at three sites were randomly assigned and pretest VE (n = 498) or GC (n = 164) was completed by 604 participants (VE, 93.1%; GC, 88.8%), of whom 596 participants (VE, 98.9%; GC, 97.9%) consented to GT and 591 participants completed GT (VE, 99.3%; GC, 98.6%). These differences were not statistically significant although subtle differences in satisfaction and psychological impact were. Notably, 84 PVs were identified in 78 participants (13.2%), with BRCA1/2 PV comprising 32% of participants with a positive result (BRCA2 n = 21, BRCA1 n = 4).
Both VE and traditional GC yielded high GT uptake without significant differences in outcome measures of completion, GT uptake, genetics knowledge, and family communication. The increased demand for GT with limited genetics resources supports consideration of pretest VE for patients with PC.
JCO oncology practice. 2023 Sep 21 [Epub ahead of print]
Huma Q Rana, Jill E Stopfer, Michelle Weitz, Lindsay Kipnis, Diane R Koeller, Samantha Culver, Joanna Mercado, Rebecca Sue Gelman, Meghan Underhill-Blazey, Bradley A McGregor, Christopher J Sweeney, Nancie Petrucelli, Courtney Kokenakes, Sara Pirzadeh-Miller, Brian Reys, Arthur Frazier, Andrew Knechtl, Salman Fateh, Donna Rachel Vatnick, Rebecca Silver, Kerry E Kilbridge, Mark M Pomerantz, Xiao X Wei, Atish D Choudhury, Guru P Sonpavde, Olga Kozyreva, Christopher Lathan, Carrie Horton, Jill S Dolinsky, Elisabeth I Heath, Theodora Suzanne Ross, Kevin Dale Courtney, Judy E Garber, Mary-Ellen Taplin
Medical Oncology, Dana-Farber Cancer Institute, Boston, MA., Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA., Karmanos Cancer Institute, Wayne State University, Detroit, MI., University of Texas Southwestern Medical Center, Dallas, TX., Karmanos Cancer Institute at McLaren Clarkston, Clarkston, MI., Lank Center for Genitourinary Oncology, Dana-Farber Cancer Institute, Boston, MA., Ambry Genetics, Aliso Viejo, CA.