Hall Taryn O, Renz Anne D, Snapinn Katherine W, Bowen Deborah J, Edwards Karen L
Institute for Public Health Genetics, School of Public Health, University of Washington, Seattle, Washington 98115, USA.
Genet Test Mol Biomarkers. 2012 Jul;16(7):744-8. doi: 10.1089/gtmb.2011.0235. Epub 2012 Jun 25.
To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls.
Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use.
One thousand two hundred sixty-seven participants responded to the survey. Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and <1% reported having used DTC genetic testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing.
Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies. Although interest in and use of these tests among cases in our sample were equivalent to other population-based studies, interest in testing was higher among relatives and people who self-referred for a registry focused on cancer than among cases and controls. Additionally, our results suggest that there may be some confusion about what constitutes DTC genetic testing.
确定与对照组相比，高危个体（癌症患者及其亲属）样本对直接面向消费者（DTC）基因检测的知晓度、兴趣和使用情况是否更高。
参与者从西北癌症遗传学网络招募。向参与者邮寄一份随访调查问卷，以评估DTC基因检测的知晓度、兴趣和使用情况。
1267名参与者回复了调查问卷。49%的受访者知晓DTC基因检测。在知晓者中，19%表示有兴趣获取，不到1%报告使用过DTC基因检测。报告使用过DTC基因检测的受访者提供的其他信息表明，这些受访者中有55%可能进行的是临床基因检测，而非DTC基因检测。
在我们的高危个体样本中，对DTC基因检测的知晓度高于对照组和基于人群的研究。尽管我们样本中患者对这些检测的兴趣和使用情况与其他基于人群的研究相当，但亲属以及为专注于癌症的登记处自行转诊的人对检测的兴趣高于患者和对照组。此外，我们的结果表明，对于什么构成DTC基因检测可能存在一些混淆。
