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巴西直接面向消费者的基因检测用户的动机、认知及影响

Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil.

作者信息

Penna Larissa Siqueira, Amemiya Raphael Bruno, Pires Thiago, Bonasser Larissa Sousa Silva, Carvalheira Leonardo, Fridman Cintia, Mingroni-Netto Regina Celia, Naslavsky Michel Satya, di Lazzaro Filho Ricardo

机构信息

Genera/Dasa Genômica, São Paulo, SP, Brazil.

Centro de Estudos sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

出版信息

J Community Genet. 2025 Aug;16(4):467-475. doi: 10.1007/s12687-024-00755-2. Epub 2024 Nov 27.

Abstract

Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously. Descriptive statistics and Chi-Square tests were used to analyze the data, with significant findings analyzed using post-hoc and correspondence analysis. This study comprised 1513 Brazilian DTC-GT consumers with a mean age of 42 years old and mostly female (60.8%). Participants' primary motivation for purchasing the test was to learn about their genetic predispositions to diseases (87.2%) followed by biogeographical ancestry (86.2%). Fewer than 20% of respondents reported consulting a healthcare professional due to the test results (18.4%), and most consumers felt confident in independently understanding the test results (66.9%), which was significantly associated with Health/Biological Sciences professional field (p < 0.001). Additionally, many customers felt glad (63.3%), and few felt worried after receiving their results (13.4%), particularly concerning health outcomes. Lifestyle changes included dietary adjustments (38.7%), regular health check-ups (24.2%) and increased physical activity (16.5%). Overall, 64.0% of respondents reported altering habits following test results. These findings contribute to understanding the motivations and impacts of DTC-GT among Brazilian consumers, indicating positive lifestyle changes and limited negative psychological impacts.

摘要

众多研究聚焦于直接面向消费者的基因检测(DTC-GT),但对于北美和欧洲以外的消费者了解甚少。因此,本研究评估了巴西消费者中DTC-GT的社会人口统计学特征、动机及影响。邀请DTC-GT客户匿名完成一项包含30个问题的在线调查。使用描述性统计和卡方检验分析数据,对显著结果采用事后检验和对应分析进行分析。本研究纳入了1513名巴西DTC-GT消费者,平均年龄42岁,多数为女性(60.8%)。参与者购买检测的主要动机是了解自身对疾病的遗传易感性(87.2%),其次是生物地理血统(86.2%)。不到20%的受访者表示因检测结果咨询过医疗保健专业人员(18.4%),且大多数消费者对独立理解检测结果有信心(66.9%),这与健康/生物科学专业领域显著相关(p < 0.001)。此外,许多客户感到高兴(63.3%),收到结果后很少有人感到担忧(13.4%),尤其是关于健康结果方面。生活方式的改变包括饮食调整(38.7%)、定期健康检查(24.2%)和增加体育活动(16.5%)。总体而言,64.0%的受访者表示在检测结果出来后改变了习惯。这些发现有助于理解巴西消费者中DTC-GT的动机和影响,表明生活方式有积极改变且负面心理影响有限。

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