Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions

Introduction: Colorectal cancer is increasingly diagnosed in people aged <50 years. New U.S. guidelines recommend screening initiation at age 45 years. Providing personalized risk for colorectal cancer using polygenic risk scores may be an opportunity to engage this younger population in colorect...

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Main Authors: Shauna R. Goldberg, MPH, Linda K. Ko, PhD, Li Hsu, PhD, Hang Yin, MS, Charles Kooperberg, PhD, Ulrike Peters, PhD, MPH, Andrea N. Burnett-Hartman, PhD, MPH
Format: Article
Language:English
Published: Elsevier 2025-02-01
Series:AJPM Focus
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Online Access:http://www.sciencedirect.com/science/article/pii/S2773065424001263
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author Shauna R. Goldberg, MPH
Linda K. Ko, PhD
Li Hsu, PhD
Hang Yin, MS
Charles Kooperberg, PhD
Ulrike Peters, PhD, MPH
Andrea N. Burnett-Hartman, PhD, MPH
author_facet Shauna R. Goldberg, MPH
Linda K. Ko, PhD
Li Hsu, PhD
Hang Yin, MS
Charles Kooperberg, PhD
Ulrike Peters, PhD, MPH
Andrea N. Burnett-Hartman, PhD, MPH
author_sort Shauna R. Goldberg, MPH
collection DOAJ
description Introduction: Colorectal cancer is increasingly diagnosed in people aged <50 years. New U.S. guidelines recommend screening initiation at age 45 years. Providing personalized risk for colorectal cancer using polygenic risk scores may be an opportunity to engage this younger population in colorectal cancer screening. There is limited research on patient understanding of polygenic risk scores results and use of polygenic risk scores to inform colorectal cancer screening decisions. Methods: From May 2022 to June 2023, 20 Kaiser Permanente Colorado members aged 46–51 years who had been offered colorectal cancer screening but had never completed it signed consent to provide a saliva sample for colorectal cancer polygenic risk score analysis. After receiving personalized polygenic risk scores for colorectal cancer, participants completed a semistructured interview regarding the understanding of their polygenic risk scores, perceived colorectal cancer risk, and intention to screen. Thematic analysis was conducted using Atlas.ti, Version 8. Results: Of the 19 participants who successfully completed polygenic risk score–related testing and a semistructured interview, 13 were female, 14 never smoked cigarettes, 6 were Hispanic, and 13 were non-Hispanic White. One participant had high risk for colorectal cancer on the basis of polygenic risk score results. Qualitative interviews showed participants’ understanding of their results, trust in polygenic risk scores, perception of risk for colorectal cancer, plans to complete colorectal cancer screening, intent to share polygenic risk scores with healthcare providers, and concerns about genetic results impacting health care. Conclusions: Qualitative analyses suggest that participants were interested in and understood their polygenic risk score results. Further study is needed to develop guidelines, effective calls to action, provider engagement, and health education materials on use of polygenic risk scores for health decision making.
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spelling doaj-art-1500c7b1bb8949e3801b15cbec21ed122025-01-09T06:17:06ZengElsevierAJPM Focus2773-06542025-02-0141100308Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening DecisionsShauna R. Goldberg, MPH0Linda K. Ko, PhD1Li Hsu, PhD2Hang Yin, MS3Charles Kooperberg, PhD4Ulrike Peters, PhD, MPH5Andrea N. Burnett-Hartman, PhD, MPH6Kaiser Permanente Colorado Institute for Health Research, Aurora, Colorado; Address correspondence to: Shauna R. Goldberg, MPH, Kaiser Permanente Colorado Institute for Health Research, 16601 East Centretech Parkway, Aurora CO 80011.Fred Hutchinson Cancer Center, Seattle, Washington; Department of Health Systems and Population Health, University of Washington, Seattle, WashingtonFred Hutchinson Cancer Center, Seattle, WashingtonFred Hutchinson Cancer Center, Seattle, WashingtonFred Hutchinson Cancer Center, Seattle, WashingtonFred Hutchinson Cancer Center, Seattle, WashingtonKaiser Permanente Colorado Institute for Health Research, Aurora, Colorado; Fred Hutchinson Cancer Center, Seattle, WashingtonIntroduction: Colorectal cancer is increasingly diagnosed in people aged <50 years. New U.S. guidelines recommend screening initiation at age 45 years. Providing personalized risk for colorectal cancer using polygenic risk scores may be an opportunity to engage this younger population in colorectal cancer screening. There is limited research on patient understanding of polygenic risk scores results and use of polygenic risk scores to inform colorectal cancer screening decisions. Methods: From May 2022 to June 2023, 20 Kaiser Permanente Colorado members aged 46–51 years who had been offered colorectal cancer screening but had never completed it signed consent to provide a saliva sample for colorectal cancer polygenic risk score analysis. After receiving personalized polygenic risk scores for colorectal cancer, participants completed a semistructured interview regarding the understanding of their polygenic risk scores, perceived colorectal cancer risk, and intention to screen. Thematic analysis was conducted using Atlas.ti, Version 8. Results: Of the 19 participants who successfully completed polygenic risk score–related testing and a semistructured interview, 13 were female, 14 never smoked cigarettes, 6 were Hispanic, and 13 were non-Hispanic White. One participant had high risk for colorectal cancer on the basis of polygenic risk score results. Qualitative interviews showed participants’ understanding of their results, trust in polygenic risk scores, perception of risk for colorectal cancer, plans to complete colorectal cancer screening, intent to share polygenic risk scores with healthcare providers, and concerns about genetic results impacting health care. Conclusions: Qualitative analyses suggest that participants were interested in and understood their polygenic risk score results. Further study is needed to develop guidelines, effective calls to action, provider engagement, and health education materials on use of polygenic risk scores for health decision making.http://www.sciencedirect.com/science/article/pii/S2773065424001263Precision medicinecolorectal cancerpolygenic risk scorecancer screeningpatient interviews
spellingShingle Shauna R. Goldberg, MPH
Linda K. Ko, PhD
Li Hsu, PhD
Hang Yin, MS
Charles Kooperberg, PhD
Ulrike Peters, PhD, MPH
Andrea N. Burnett-Hartman, PhD, MPH
Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
AJPM Focus
Precision medicine
colorectal cancer
polygenic risk score
cancer screening
patient interviews
title Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
title_full Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
title_fullStr Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
title_full_unstemmed Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
title_short Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions
title_sort patient perspectives on personalized risk communication using polygenic risk scores to inform colorectal cancer screening decisions
topic Precision medicine
colorectal cancer
polygenic risk score
cancer screening
patient interviews
url http://www.sciencedirect.com/science/article/pii/S2773065424001263
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