Badr Hoda, Byun Jinyoung, Aldrich Melinda C, Bierut Laura J, Chen Li-Shiun, Hung Rayjean J, Amos Christopher I
Department of Medicine, Baylor College of Medicine, Houston, TX, United States.
University of New Mexico Comprehensive Cancer Center, Albequerque, NM, United States.
Ann Behav Med. 2025 Jan 4;59(1). doi: 10.1093/abm/kaaf020.
Polygenic risk scores (PRS) hold promise for early lung cancer detection and personalized treatment, yet factors influencing patient interest in PRS-based genetic testing are not well understood.
Grounded in the health belief model, this mixed-methods study explored knowledge, attitudes, perceived benefits and barriers to lung cancer PRS, and preferences for receiving PRS results.
The study included 141 individuals (41% African American, 63% female) recruited from two hospital affiliates of a comprehensive cancer center in the Southwestern United States. Although participants recognized the severity of lung cancer, knowledge of PRS was limited. Concerns about privacy, psychological impacts, and uncertainty about result usefulness diminished interest in genetic testing for polygenic risk. Significant differences (P < .05) in attitudes were observed: women expressed heightened concerns about psychological effects, and African Americans reported greater perceptions of stigma and concerns about potential familial consequences. Qualitative findings emphasized the psychological burden of learning one's genetic risk, particularly among those with family cancer histories or smoking exposure. Participants emphasized the need for clear, actionable results and assurances of data privacy.
Perceived benefits and barriers to PRS-based testing varied by sociodemographic and personal risk factors, with concerns about stigma, psychological burden, and privacy shaping attitudes. Given participants' emphasis on clear, actionable results, strategies to enhance uptake should improve risk communication, ensure data privacy, and provide guidance on risk-reducing actions. Tailored approaches addressing subgroup-specific concerns may improve diverse patient engagement and equitable access to PRS.
多基因风险评分（PRS）在早期肺癌检测和个性化治疗方面具有前景，但影响患者对基于PRS的基因检测兴趣的因素尚未得到充分理解。
基于健康信念模型，这项混合方法研究探讨了对肺癌PRS的知识、态度、感知到的益处和障碍，以及对接收PRS结果的偏好。
该研究纳入了从美国西南部一家综合癌症中心的两家附属医院招募的141名个体（41%为非裔美国人，63%为女性）。尽管参与者认识到肺癌的严重性，但对PRS的了解有限。对隐私、心理影响以及结果有用性的不确定性的担忧降低了对多基因风险基因检测的兴趣。观察到态度上存在显著差异（P < 0.05）：女性对心理影响表达了更高的担忧，非裔美国人报告了更大的耻辱感认知以及对潜在家族后果的担忧。定性研究结果强调了了解个人基因风险的心理负担，尤其是在有家族癌症病史或接触过吸烟的人群中。参与者强调需要清晰、可采取行动的结果以及数据隐私保证。
基于PRS的检测的感知益处和障碍因社会人口统计学和个人风险因素而异，对耻辱感、心理负担和隐私的担忧塑造了态度。鉴于参与者强调清晰、可采取行动的结果，提高接受度的策略应改善风险沟通、确保数据隐私，并提供关于降低风险行动的指导。针对亚组特定担忧的量身定制方法可能会改善不同患者的参与度以及公平获取PRS的机会。
