Kaufman David J, Bollinger Juli M, Dvoskin Rachel L, Scott Joan A
Genetics and Public Policy Center, Berman Institute of Bioethics, Johns Hopkins University, Washington, DC, USA.
J Genet Couns. 2012 Jun;21(3):413-22. doi: 10.1007/s10897-012-9483-0. Epub 2012 Jan 26.
Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.
直接面向消费者的基因检测引发了人们对于客户将如何解读检测结果以及这些解读将如何影响医疗保健使用和行为的猜测；然而，关于这些主题的实证数据却很少。我们对23andMe、deCODEme和Navigenics这三家公司的直接面向消费者的基因检测客户进行了一项在线调查，以开始解决这些问题。我们邀请了美国直接面向消费者的基因检测客户的随机样本参与调查。调查主题包括人口统计学信息、对两份基因检测样本结果的看法以及基因检测后的健康行为。在受邀的3167名直接面向消费者的基因检测客户中，33%（n = 1048）完成了调查。43%的受访者寻求过有关所检测健康状况的更多信息；28%的受访者与医疗保健专业人员讨论过他们的检测结果；9%的受访者进行了额外的实验室检测。16%的受访者改变了药物或补充剂服用方案，三分之一的受访者表示他们在饮食方面更加谨慎。许多这些与健康相关的行为与一个问题的回答显著相关，该问题询问参与者如果收到一份显示终生风险为11%的检测结果（相比一般人群5%的风险），他们会如何看待自己患结肠癌的风险（低、中或高）。那些认为自己患结肠癌风险高的受访者更有可能寻求有关某种疾病的信息（p = 0.03）、与医生讨论检测结果（p = 0.05）、改变饮食（p = 0.02）以及增加运动量（p = 0.01）。参与者的个人健康背景——包括个人和家族病史以及自我感知的健康质量——也与检测后的健康相关行为有关。对基因风险数据的主观解读和个人背景似乎与直接面向消费者的基因检测客户的健康行为有关。与医疗保健专业人员分享直接面向消费者的基因检测结果可能会增加检测的感知效用。
