Relatively little is known about the possible effects of personalized genetic risk information on smoking, the leading preventable cause of morbidity and mortality. We examined the acceptability and potential behavior change associated with a personalized genetically-informed risk tool (RiskProfile) among current smokers. Current smokers (n=108) were enrolled in a pre-post study with three visits. At Visit 1, participants completed a baseline assessment and genetic testing via 23andMe. Participants' raw genetic data (CHRNA5 variants) and smoking heaviness were used to create a tailored RiskProfile tool that communicated personalized risks of smoking-related diseases and evidence-based recommendations to promote cessation. Participants received their personalized RiskProfile intervention at Visit 2, approximately 6 weeks later. Visit 3 involved a telephone-based follow-up assessment 30 days after intervention. Of enrolled participants, 83% were retained across the three visits. Immediately following intervention, acceptability of RiskProfile was high (M=4.4; SD=0.6 on scale of 1 to 5); at 30-day follow-up, 89% of participants demonstrated accurate recall of key intervention messages. In the full analysis set of this single-arm trial, cigarettes smoked per day decreased from intervention to 30-day follow-up [11.3 vs. 9.8, difference=1.5, 95% CI (0.6-2.4), p=.001]. A personalized genetically-informed risk tool was found to be highly acceptable and associated with a reduction in smoking, although the absence of a control group must be addressed in future research. This study demonstrates proof of concept for translating key basic science findings into a genetically-informed risk tool that was used to promote progress toward smoking cessation.

中文翻译：

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促进戒烟的个性化遗传风险工具的概念证明：高可接受性和减少吸烟

关于个性化遗传风险信息对吸烟的可能影响知之甚少，吸烟是发病率和死亡率的主要可预防原因。我们检查了当前吸烟者与个性化遗传信息风险工具 (RiskProfile) 相关的可接受性和潜在行为变化。当前吸烟者 (n=108) 参加了一项为期 3 次就诊的事前研究。在第 1 次访问中，参与者通过 23andMe 完成了基线评估和基因检测。参与者的原始遗传数据（CHRNA5 变体）和吸烟量被用来创建定制的 RiskProfile 工具，该工具传达与吸烟相关疾病的个性化风险和基于证据的建议以促进戒烟。大约 6 周后，参与者在第 2 次访问时接受了他们的个性化风险概况干预。访问 3 涉及干预后 30 天的电话随访评估。在登记的参与者中，83% 的参与者在三次就诊中被保留。干预后，RiskProfile 的可接受性很高（M=4.4；SD=0.6，从 1 到 5）；在 30 天的随访中，89% 的参与者表现出对关键干预信息的准确回忆。在这项单臂试验的完整分析集中，从干预到 30 天随访，每天吸烟量减少 [11.3 vs. 9.8，差异=1.5，95% CI (0.6-2.4)，p=.001] . 一种个性化的遗传信息风险工具被发现是高度可接受的，并且与减少吸烟有关，尽管在未来的研究中必须解决没有对照组的问题。