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自闭症患者对自闭症基因检测的道德和伦理考量的观点。

Autistic perspectives on the moral and ethical considerations of genetic testing for autism.

作者信息

Hendry Mitch, Byres Loryn, Austin Jehannine

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Department of Psychiatry, University of British Columbia, Vancouver, BC, Canada.

出版信息

Eur J Hum Genet. 2025 May 8. doi: 10.1038/s41431-025-01862-5.

Abstract

This study aimed to characterize the nuanced perspectives expressed by Autistic adults about genetic testing for autism. In this secondary analysis of an existing dataset, we used inductive content analysis of free-text responses that Autistic adults wrote in response to questions asking about perceptions of genetic testing for autism that had been included in a previous survey. Participants who completed the survey had been recruited online. Three-hundred eighty-nine participants wrote a total of 28,774 words in response to the questions of interest. While some respondents wrote about potential benefits of genetic testing (79/389), more (333/389) wrote about potential negative outcomes of genetic testing. Participants wrote about concerns of eugenics (281/389), described a lack of trust in how genetics information would be used (125/389), and raised concerns that genetic testing could increase discrimination (66/389). This is the largest study to date to conduct an in-depth analysis of Autistic adults' opinions on genetic testing for autism. Most respondents raised serious concerns. Additional work is needed to collect more Autistic opinions about genetic testing for autism.

摘要

本研究旨在描述自闭症成年患者对自闭症基因检测所表达的细微观点。在对现有数据集的二次分析中,我们对自闭症成年患者针对先前一项调查中关于自闭症基因检测认知问题所写的自由文本回复进行了归纳性内容分析。完成该调查的参与者是通过网络招募的。389名参与者针对相关问题共写下了28774个单词。虽然一些受访者提到了基因检测的潜在益处(79/389),但更多人(333/389)提到了基因检测的潜在负面结果。参与者提到了对优生学的担忧(281/389),表示对基因信息的使用缺乏信任(125/389),并担心基因检测会增加歧视(66/389)。这是迄今为止对自闭症成年患者关于自闭症基因检测观点进行深入分析的最大规模研究。大多数受访者提出了严重关切。需要开展更多工作以收集更多自闭症患者对自闭症基因检测的看法。

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