面向消费者的基因检测中公众意识的调查分析

Investigation and analysis of public awareness in gene detection for consumers

目的设计面向公众的遗传素养和基因检测伦理诉求问卷并分析社区居民和基因检测个体的遗传学素养水平和基因检测伦理学偏好。方法自行设计基因认知素养问卷和基因检测伦理学诉求问卷,采用分层随机抽样方法对广州市居民和直接面向消费者的基因检测健康居民进行面访式调查,采用Logistics回归分析伦理高诉求群体在基因认知素养方面的差别。结果认知素养问卷信度为0.8,基因认知素养整体合格率较低,社区居民认知素养合格率(28.7%)和基因检测消费者群体认知素养合格率(31.8%)差别无统计学意义(χ2=0.635,P=0.426)。伦理诉求问卷信度为0.6,基因检测群体对基因检测结果准确性的伦理要求和基因歧视的伦理要求更高一些,但高诉求群体Logistics回归分析发现,基因素养较高群体对检测个人自主性的伦理诉求更高一些(OR=1.774,P=0.003),而基因检测人群对基因歧视的伦理需求相对弱一些(OR=0.103,P=0.003)。结论在提高个人基因认知素养的情景中,必将有更多的个体有基因检测的需要。目前商业公司面向消费者的基因检测其灵敏性和特异性离临床的应用还有巨大的差距,在伦理和隐私问题没有解决的情况下,通过基因检测来提高公众健康水平有巨大的不确定性。

Objective To design a public-oriented genetic literacy and genetic testing ethical appeal questionnaire and analyze the genetic literacy levels and genetic testing ethics preferences of community residents and genetic testing individuals. Methods The gene cognition literacy questionnaire and the genetic testing ethics appeal questionnaire were designed. The stratified random sampling method was used to conduct a face-to-face survey of Guangzhou residents and healthy residents of genetic testing. The ethical high correlation with the genetic cognition literacy of the appealing group was analyzed by Logistics regression. Results The reliability of the cognitive literacy questionnaire was 0.8 and the overall qualified rate of genetic cognition literacy was low. The difference between the qualified rate of cognitive literacy of community residents （28.7%） and the qualified rate of cognitive literacy of genetic testing consumers （31.8%） was not statistical significance （ χ 2=0.635,P =0.426）. The ethical appeal questionnaire exhibited a reliability of 0.6. The ethical requirements of the genetic testing population for the accuracy of genetic testing results and the ethical requirements for genetic discrimination were higher. Logistics regression analysis found that the higher ethical appeals for detecting individual autonomy are higher （OR=1.774, P =0.003）. While the genetic testing population had a high relatively with low ethical need for genetic discrimination （OR=0.103 ,P =0.003）. Conclusion In the context of improving individual genetic cognition literacy,there will be more individuals with the need for genetic testing. At present, there is still a huge gap between the sensitivity and specificity of commercial companies genetic testing for consums and clinical application. There is a huge uncertainty in improving public health through genetic testing without solving ethical and privacy issues.