Goldberg Shauna R, Ko Linda K, Hsu Li, Yin Hang, Kooperberg Charles, Peters Ulrike, Burnett-Hartman Andrea N
Kaiser Permanente Colorado Institute for Health Research, Aurora, Colorado.
Fred Hutchinson Cancer Center, Seattle, Washington.
AJPM Focus. 2024 Dec 4;4(1):100308. doi: 10.1016/j.focus.2024.100308. eCollection 2025 Feb.
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.
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.
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.
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.
越来越多年龄小于50岁的人被诊断出患有结直肠癌。美国新指南建议从45岁开始进行筛查。使用多基因风险评分提供个性化的结直肠癌风险，可能是促使这一年轻人群参与结直肠癌筛查的一个契机。关于患者对多基因风险评分结果的理解以及使用多基因风险评分来指导结直肠癌筛查决策的研究有限。
2022年5月至2023年6月，20名年龄在46 - 51岁之间、曾被提供结直肠癌筛查但从未完成的凯撒永久医疗科罗拉多会员签署同意书，提供唾液样本用于结直肠癌多基因风险评分分析。在收到个性化的结直肠癌多基因风险评分后，参与者完成了一次半结构化访谈，内容涉及对其多基因风险评分的理解、感知的结直肠癌风险以及筛查意愿。使用Atlas.ti 8版本进行主题分析。
在成功完成多基因风险评分相关检测和半结构化访谈的19名参与者中，13名是女性，14名从不吸烟，6名是西班牙裔，13名是非西班牙裔白人。根据多基因风险评分结果，有一名参与者患结直肠癌的风险较高。定性访谈显示了参与者对其结果的理解、对多基因风险评分的信任、对结直肠癌风险的感知、完成结直肠癌筛查的计划、与医疗服务提供者分享多基因风险评分的意愿以及对基因结果影响医疗保健的担忧。
定性分析表明参与者对其多基因风险评分结果感兴趣并理解。需要进一步研究以制定关于使用多基因风险评分进行健康决策的指南、有效的行动呼吁、医疗服务提供者参与方式以及健康教育材料。
