Background. Algorithms including both traditional risk factors and polygenic risk scores (PRS) can significantly improve prediction of atherosclerotic cardiovascular disease (ASCVD). However, the clinical benefit of adding PRS to clinical risk evaluation remains unclear. Objectives. The study evaluated the attitudes of 7,342 individuals (64% women, mean age 56 yrs) upon receiving personal genome-enhanced ASCVD risk information, and prospectively assessed the impact on the participants' health behavior. Methods. The participant's 10-year risk for ASCVD was estimated using both a traditional clinical risk score and a PRS-enhanced score, and both scores were communicated directly to study participants with an interactive web-tool. Results. When reassessed after 1.5 years by a clinical visit and questionnaires, 20.8% of individuals at high (>10%) ASCVD risk had seen a doctor, 12.4% reported weight loss, 14.2% of smokers had quit smoking, and 15.4% had signed up for health coaching online. Altogether, 42.6% of individuals at high risk had made some health behavioral change compared to 33.5% of persons at low/average risk such that a higher baseline risk predicted a favorable change (p<0.001), with both clinical (p<0.001) and genomic factors (p=0.003) contributing independently. Seeing a doctor and weight loss both resulted in clinically significant improvement of lipid profiles (lower LDL-cholesterol and triglycerides) and lower systolic blood pressure (p<0.01). Conclusions. Web-based communication of personal ASCVD risk-data including polygenic risk to middle-aged persons can motivate positive changes in health behavior. It supports integration of genomic information into clinical risk calculators as a feasible approach to enhance disease prevention.

中文翻译：

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传播动脉粥样硬化性心血管疾病的多基因和非遗传风险-一项观察性随访研究

背景。既包括传统风险因素又包括多基因风险评分（PRS）的算法可以显着改善对动脉粥样硬化性心血管疾病（ASCVD）的预测。但是，尚不清楚在临床风险评估中添加PRS的临床益处。目标。该研究评估了7342名个体（64％的女性，平均年龄56岁）在接受个人基因组增强的ASCVD风险信息后的态度，并前瞻性评估了对参与者健康行为的影响。方法。使用传统的临床风险评分和PRS增强评分来评估参与者的10年ASCVD风险，并且使用交互式网络工具将这两个分数直接传达给研究参与者。结果。在1.5年后通过临床访问和问卷调查重新评估时，20。高（> 10％）ASCVD风险的个人中有8％曾看过医生，有12.4％的人称体重减轻，有14.2％的吸烟者戒烟，有15.4％的人在线注册了健康教练。相比于低风险/平均风险的33.5％的高风险人群，有42.6％的高危人群做出了一些健康的行为改变，因此较高的基线风险预示着良好的变化（p <0.001），而两种临床表现（p <0.001）和基因组因素（p = 0.003）独立发挥作用。就医和减轻体重都导致了血脂状况的临床显着改善（降低了LDL-胆固醇和甘油三酸酯）和降低了收缩压（p <0.01）。结论。基于Web的个人ASCVD风险数据通信，包括对中年人的多基因风险，可以促使健康行为发生积极变化。