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Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature.精神障碍家族风险下的心理社会影响及对精神疾病遗传检测的态度:文献系统综述。
Am J Med Genet B Neuropsychiatr Genet. 2020 Jul;183(5):277-288. doi: 10.1002/ajmg.b.32786. Epub 2020 May 5.
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Participatory Design of a Personalized Genetic Risk Tool to Promote Behavioral Health.用于促进行为健康的个性化遗传风险工具的参与式设计。
Cancer Prev Res (Phila). 2020 Jul;13(7):583-592. doi: 10.1158/1940-6207.CAPR-20-0029. Epub 2020 Mar 24.
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Assessing the implications of positive genomic screening results.评估基因组筛查阳性结果的影响。
Per Med. 2020 Mar;17(2):101-109. doi: 10.2217/pme-2019-0067. Epub 2020 Mar 3.
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Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations.全基因组关联研究在遗传背景多样化的人群中的应用:机遇、方法、陷阱和建议。
Cell. 2019 Oct 17;179(3):589-603. doi: 10.1016/j.cell.2019.08.051. Epub 2019 Oct 10.
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Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map.基于证据的精神障碍遗传咨询:路线图。
Cold Spring Harb Perspect Med. 2020 Jun 1;10(6):a036608. doi: 10.1101/cshperspect.a036608.
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Personalized medicine in breast cancer: pharmacogenomics approaches.乳腺癌的个性化医疗:药物基因组学方法
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8
Attitudes toward Precision Treatment of Smoking in the Southern Community Cohort Study.对南方社区队列研究中吸烟精准治疗态度的研究。
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Health Psychol. 2019 Jul;38(7):623-637. doi: 10.1037/hea0000728. Epub 2019 Apr 11.
10
Behavioral and social scientists' reflections on genomics: a systematic evaluation within the Society of Behavioral Medicine.行为和社会科学家对基因组学的反思:行为医学学会内的系统评价。
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社区中当前吸烟者对基于遗传信息的吸烟风险工具的体内设计反馈和感知效用。

In-vivo design feedback and perceived utility of a genetically-informed smoking risk tool among current smokers in the community.

机构信息

Wellbridge Center for Addiction Treatment and Research, Center for Addiction Science, 525 Jan Way, Room 1523, Calverton, NY, 11922, USA.

Department of Psychiatry, Washington University in St. Louis, St. Louis, MO, USA.

出版信息

BMC Med Genomics. 2021 May 26;14(1):139. doi: 10.1186/s12920-021-00976-1.

DOI:10.1186/s12920-021-00976-1
PMID:34039360
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8152342/
Abstract

BACKGROUND

The use of genetically-informed personalized risk information for behavioral disorders, namely smoking and smoking-related behaviors, is a promising yet understudied area. The Genetics and Smoking Risk Profile, or RiskProfile, leverages genetic and environmental information to communicate one's risk for smoking-related diseases. Although prior studies have examined attitudes toward genetic results, little research has investigated these perceptions through a lens of in-vivo testing; that is, user-centered design feedback in response to personalized genetic results being returned contemporaneously. This qualitative study engaged current smokers in usability testing of the RiskProfile within the context of concurrently receiving this personalized, genetically-informed smoking cessation intervention.

METHODS

Eighty-nine participants who were current smokers responded to open-ended interview questions on perceptions of smoking-related genetic information and the content and format of the RiskProfile intervention that they had received moments before. Data were analyzed via the conventional content analysis approach in which themes were allowed to emerge throughout the analysis.

RESULTS

Participants were able to reference and offer design input on specific elements of the RiskProfile. Overall, current smokers perceived the RiskProfile to have high potential utility. Constructive feedback that current smokers offered about the tool centered around suggested improvements to optimize its usability and technical content.

CONCLUSIONS

The detailed and constructive feedback from participants highlights that in-vivo feedback offers a useful design approach that addresses concerns of rigor and relevance when returning genetic results. This unique method demonstrated perceived utility and constructive design feedback for the RiskProfile among current smokers and can play an important role in optimizing the design and implementation of personalized genetic risk interventions moving forward.

摘要

背景

利用遗传信息为行为障碍(即吸烟和与吸烟相关的行为)提供个性化风险信息是一个有前途但研究不足的领域。遗传与吸烟风险概况(或 RiskProfile)利用遗传和环境信息来传达一个人患与吸烟相关疾病的风险。尽管先前的研究已经检验了对遗传结果的态度,但很少有研究从体内测试的角度来研究这些看法;也就是说,针对同时返回的个性化遗传结果,用户中心设计反馈。本定性研究在同时接受这种个性化、基于遗传的戒烟干预的情况下,让当前吸烟者参与对 RiskProfile 的可用性测试。

方法

89 名当前吸烟者对有关吸烟相关遗传信息的看法以及他们之前收到的 RiskProfile 干预措施的内容和格式的开放性问题进行了回复。通过常规内容分析方法对数据进行分析,在分析过程中允许主题出现。

结果

参与者能够参考并提供有关 RiskProfile 特定元素的设计输入。总体而言,当前吸烟者认为 RiskProfile 具有很高的潜在效用。当前吸烟者围绕优化其可用性和技术内容提出的建设性反馈是对该工具的反馈。

结论

参与者的详细和建设性反馈表明,体内反馈提供了一种有用的设计方法,当返回遗传结果时可以解决严谨性和相关性的问题。这种独特的方法在当前吸烟者中展示了 RiskProfile 的感知效用和建设性设计反馈,可以在优化个性化遗传风险干预措施的设计和实施方面发挥重要作用。