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中国医科学生对脆性X综合征基因检测及咨询问题的态度。

Attitude of medical school students in China towards genetic testing and counseling issues in FXS.

作者信息

Li Jia, Huang Wen, Luo Shiyu, Lin Yunting, Duan Ranhui

机构信息

State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078, China.

出版信息

J Genet Couns. 2013 Dec;22(6):733-40. doi: 10.1007/s10897-013-9634-y. Epub 2013 Aug 18.

Abstract

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. However, genetic testing protocols and genetic counseling guidelines for FXS are not yet established in mainland China. In the present study, we conducted a comprehensive analysis using a self-administered questionnaire among students at the Xiangya medical school to investigate their attitude towards genetic testing and counseling issues of FXS. We have gained a general understanding of the attitudes of medical students towards these FXS issues in China. This information is of immense importance to develop appropriate genetic tests and to train counselors for FXS. As the medical school students surveyed are prospective physicians who will be a part of the Chinese health system, our survey was focused on the basic knowledge of FXS, population-based FXS screening, confidentiality and reproductive options for mutation carriers. The study demonstrated that only less than one third of the participants had heard about FXS. 94.6 % of participants were in favor of FXS screening for women in their reproductive age who had a genetic history of FXS. Furthermore, only half of the participants would inform their families about their genetic status in case of positive test results, and more than half of the participants supported natural conception and prenatal diagnosis for FXS mutation carriers. Additional findings and research implications are also discussed. This survey targeting potential doctors provides important information for the development of FXS genetic test and counselor training for the Chinese health system.

摘要

脆性X综合征(FXS)是遗传性智力残疾最常见的形式。然而,中国大陆尚未建立FXS的基因检测方案和遗传咨询指南。在本研究中,我们使用自填式问卷对湘雅医学院的学生进行了全面分析,以调查他们对FXS基因检测和咨询问题的态度。我们对中国医学生对这些FXS问题的态度有了大致了解。这些信息对于开发合适的基因检测和培训FXS咨询师至关重要。由于接受调查的医学院学生是未来将成为中国医疗体系一部分的医生,我们的调查重点是FXS的基本知识、基于人群的FXS筛查、保密以及突变携带者的生殖选择。研究表明,只有不到三分之一的参与者听说过FXS。94.6%的参与者赞成对有FXS遗传史的育龄女性进行FXS筛查。此外,只有一半的参与者会在检测结果呈阳性时告知家人自己的基因状况,超过一半的参与者支持FXS突变携带者自然受孕和产前诊断。还讨论了其他研究结果和研究意义。这项针对潜在医生的调查为中国医疗体系开发FXS基因检测和培训咨询师提供了重要信息。

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