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文章:

在人群环境中实施结合多基因风险评分的多因素风险评估以进行个性化乳腺癌筛查:挑战与机遇

Implementing Multifactorial Risk Assessment with Polygenic Risk Scores for Personalized Breast Cancer Screening in the Population Setting: Challenges and Opportunities

原文发布日期:31 May 2024

DOI: 10.3390/cancers16112116

类型: Article

开放获取: 是

 

英文摘要:

Risk-stratified breast screening has been proposed as a strategy to overcome the limitations of age-based screening. A prospective cohort study was undertaken within the PERSPECTIVE I&I project, which will generate the first Canadian evidence on multifactorial breast cancer risk assessment in the population setting to inform the implementation of risk-stratified screening. Recruited females aged 40–69 unaffected by breast cancer, with a previous mammogram, underwent multifactorial breast cancer risk assessment. The adoption of multifactorial risk assessment, the effectiveness of methods for collecting risk factor information and the costs of risk assessment were examined. Associations between participant characteristics and study sites, as well as data collection methods, were assessed using logistic regression; allp-values are two-sided. Of the 4246 participants recruited, 88.4% completed a risk assessment, with 79.8%, 15.7% and 4.4% estimated at average, higher than average and high risk, respectively. The total per-participant cost for risk assessment was CAD 315. Participants who chose to provide risk factor information on paper/telephone (27.2%) vs. online were more likely to be older (p= 0.021), not born in Canada (p= 0.043), visible minorities (p= 0.01) and have a lower attained education (p< 0.0001) and perceived fair/poor health (p< 0.001). The 34.4% of participants requiring risk factor verification for missing/unusual values were more likely to be visible minorities (p= 0.009) and have a lower attained education (p≤ 0.006). This study demonstrates the feasibility of risk assessment for risk-stratified screening at the population level. Implementation should incorporate an equity lens to ensure cancer-screening disparities are not widened.

 

摘要翻译: 

风险分层乳腺筛查被提出作为克服基于年龄筛查局限性的策略。PERSPECTIVE I&I项目内开展了一项前瞻性队列研究,该研究将首次在加拿大人群环境中生成多因素乳腺癌风险评估证据,为风险分层筛查的实施提供依据。研究招募了40-69岁未患乳腺癌且既往接受过乳腺X线检查的女性参与者,对其进行多因素乳腺癌风险评估。研究考察了多因素风险评估的采纳情况、风险因素信息收集方法的有效性以及风险评估的成本。采用逻辑回归分析评估参与者特征与研究地点及数据收集方法之间的关联;所有p值均为双侧检验。在4246名招募参与者中,88.4%完成了风险评估,分别有79.8%、15.7%和4.4%的参与者被评估为平均风险、高于平均风险和高风险。每位参与者的风险评估总成本为315加元。选择纸质/电话方式(27.2%)提供风险因素信息的参与者相较于在线方式者,更可能具有以下特征:年龄较大(p=0.021)、非加拿大出生(p=0.043)、可见少数族裔(p=0.01)、受教育程度较低(p<0.0001)以及自评健康状况一般/较差(p<0.001)。34.4%因数据缺失/异常值需要进行风险因素核实的参与者更可能为可见少数族裔(p=0.009)且受教育程度较低(p≤0.006)。本研究证实了在人群层面实施风险分层筛查风险评估的可行性。实施过程中应纳入公平视角,以确保不扩大癌症筛查差距。

 

原文链接:

Implementing Multifactorial Risk Assessment with Polygenic Risk Scores for Personalized Breast Cancer Screening in the Population Setting: Challenges and Opportunities

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