Development and pilot testing of a prostate cancer polygenic risk report

Abstract Background Polygenic risk scores (PRS) are increasingly being incorporated into clinical care, yet optimal strategies for communicating PRS results to patients and clinicians remain undefined. Effective report design is critical to ensure comprehension and appropriate use, particularly for complex conditions such as prostate cancer where screening decisions are nuanced. We developed and pilot tested patient-facing materials to communicate integrated polygenic and monogenic risk for prostate cancer in the context of a randomized clinical trial. Methods We designed a summary report and accompanying Frequently Asked Questions (FAQ) page to communicate prostate cancer genetic risk within the Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS). Materials were developed through an iterative, multidisciplinary process informed by existing literature on genomic risk communication. We conducted semi-structured interviews with a national sample of eight men eligible for prostate cancer screening to evaluate comprehension, interpretation of visual elements, perceived usefulness, and preferences for improvement. Interviews were transcribed and analyzed using reflexive thematic analysis. Results Participants generally found the summary report and FAQ page understandable and visually engaging. Graphical displays of absolute risk, particularly pictograph arrays, facilitated comprehension and helped contextualize risk. Visual cues such as color and bold formatting effectively directed attention to key information, with red coloring perceived as particularly salient for high-risk results. In contrast, more complex visualizations, including bell curves and incidence curves, were frequently misunderstood or not interpreted as intended. Participants expressed a desire for clearer guidance regarding next steps and additional accessible information, suggesting supplementary resources such as hyperlinks or QR codes. Concerns about readability included small font size and high text density. Conclusions In this qualitative pilot study, patient-facing materials for communicating prostate cancer PRS were generally well received, with specific design features such as simple visualizations and clear formatting enhancing understanding. Findings highlight the importance of intuitive risk displays and actionable guidance in PRS reporting. These results provide practical insights to inform the design of genomic risk reports as PRS-based prostate cancer screening approaches move toward clinical implementation. Trial registration ClinicalTrials.gov NCT05926102; date of registry: July 3, 2023.

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Publication Details

Journal
BMC Medical Genomics
Published
2026-07-30
DOI
https://doi.org/10.1186/s12920-026-02416-4
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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article

Development and pilot testing of a prostate cancer polygenic risk report

Jason L. Vassy, Niall J. Lennon, Charles A. Brunette, Marla L. Clayman et al.
BMC Medical Genomics
BRCA gene mutations in cancer
article

Development and pilot testing of a prostate cancer polygenic risk report

Jason L. Vassy, Niall J. Lennon, Charles A. Brunette, Marla L. Clayman, Ashley A. Antwi, Haley L Gerety, Mercedes G. Bertero, Julian Martin, Louise Guentert, Katherine Lafferty, Lauren S. Patel, Chris Gillespie, Julia N. Griffin, Morgan E. Danowski
article en

Abstract

Abstract Background Polygenic risk scores (PRS) are increasingly being incorporated into clinical care, yet optimal strategies for communicating PRS results to patients and clinicians remain undefined. Effective report design is critical to ensure comprehension and appropriate use, particularly for complex conditions such as prostate cancer where screening decisions are nuanced. We developed and pilot tested patient-facing materials to communicate integrated polygenic and monogenic risk for prostate cancer in the context of a randomized clinical trial. Methods We designed a summary report and accompanying Frequently Asked Questions (FAQ) page to communicate prostate cancer genetic risk within the Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS). Materials were developed through an iterative, multidisciplinary process informed by existing literature on genomic risk communication. We conducted semi-structured interviews with a national sample of eight men eligible for prostate cancer screening to evaluate comprehension, interpretation of visual elements, perceived usefulness, and preferences for improvement. Interviews were transcribed and analyzed using reflexive thematic analysis. Results Participants generally found the summary report and FAQ page understandable and visually engaging. Graphical displays of absolute risk, particularly pictograph arrays, facilitated comprehension and helped contextualize risk. Visual cues such as color and bold formatting effectively directed attention to key information, with red coloring perceived as particularly salient for high-risk results. In contrast, more complex visualizations, including bell curves and incidence curves, were frequently misunderstood or not interpreted as intended. Participants expressed a desire for clearer guidance regarding next steps and additional accessible information, suggesting supplementary resources such as hyperlinks or QR codes. Concerns about readability included small font size and high text density. Conclusions In this qualitative pilot study, patient-facing materials for communicating prostate cancer PRS were generally well received, with specific design features such as simple visualizations and clear formatting enhancing understanding. Findings highlight the importance of intuitive risk displays and actionable guidance in PRS reporting. These results provide practical insights to inform the design of genomic risk reports as PRS-based prostate cancer screening approaches move toward clinical implementation. Trial registration ClinicalTrials.gov NCT05926102; date of registry: July 3, 2023.

BMC Medical Genomics
Broad Institute (US), Boston University (US), Harvard University (US), University of Massachusetts Chan Medical School (US), University of Washington (US), VA Boston Healthcare System (US), Mass General Brigham (US)
U.S. Department of Veterans Affairs
Quality Education
Openalex Percentile: Top 9%
BRCA gene mutations in cancer
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