Gallion Tielle, Williams Zachary J, Niarchou Maria, Duncan Laura, Hooker Gillian, Taylor Kelly A
Master of Genetic Counseling Program, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Medical Scientist Training Program, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
J Genet Couns. 2025 Feb;34(1):e1918. doi: 10.1002/jgc4.1918. Epub 2024 May 25.
Genetic testing for autism has been a controversial topic within the autistic community. Opinions regarding the benefits, risks, and limitations of genetic testing often differ between autistic people, researchers, and healthcare providers. The present study sought to understand the beliefs, attitudes, and intentions to pursue genetic testing of autistic adults and compare perspectives of autistic people who have had genetic testing with those who have not. An international sample of 173 autistic adults (19 [11%] who had previously undergone autism-related genetic testing) completed an online survey with questions assessing beliefs, attitudes, and intentions to pursue genetic testing. Beliefs and attitudes about genetic testing varied widely across the sample. Autistic individuals who had received prior genetic testing had much more positive beliefs about autism-related genetic testing (d = 0.87, 95% CI [0.37, 1.36]) and attitudes toward genetic testing (d = 1.14, 95% CI [0.66, 1.61]) compared to those who had not received such testing, although there were no meaningful differences between those same groups regarding beliefs about genetic testing unrelated to autism (d = 0.02, 95% CI [-0.45, 0.49], p = 0.93). Intention to genetically test oneself or one's (hypothetical) children was also significantly predicted by autism-specific beliefs, attitudes, and prior genetic testing status. A large majority of the sample (78.6%) also agreed that autistic individuals would benefit from contact with a genetic counselor in certain situations. These findings suggest that the autistic community does not have a singular view of genetic testing, and for those Autistic individuals who are interested in pursuing genetic testing for themselves or a family member, genetic counselors have the potential to play a key role in clinical care.
自闭症基因检测一直是自闭症群体中颇具争议的话题。自闭症患者、研究人员和医疗服务提供者对于基因检测的益处、风险和局限性的看法往往存在差异。本研究旨在了解自闭症成年人对基因检测的信念、态度和进行检测的意图，并比较已进行基因检测的自闭症患者与未进行检测的患者的观点。一项针对173名自闭症成年人的国际样本（其中19名[11%]此前接受过与自闭症相关的基因检测）完成了一项在线调查，调查问题涉及对基因检测的信念、态度和进行检测的意图。样本中对基因检测的信念和态度差异很大。与未接受过此类检测的自闭症个体相比，接受过基因检测的个体对与自闭症相关的基因检测持有更为积极的信念（d = 0.87，95%置信区间[0.37, 1.36]）以及对基因检测的态度（d = 1.14，95%置信区间[0.66, 1.61]），尽管在与自闭症无关的基因检测信念方面，这两组之间没有显著差异（d = 0.02，95%置信区间[-0.45, 0.49]，p = 0.93）。自闭症特异性信念、态度和先前的基因检测状况也显著预测了自我或（假设的）子女进行基因检测的意图。样本中的绝大多数（78.6%）还同意，自闭症个体在某些情况下会从与基因咨询师的接触中受益。这些发现表明，自闭症群体对基因检测没有单一的看法，对于那些有兴趣为自己或家庭成员进行基因检测的自闭症个体来说，基因咨询师在临床护理中有可能发挥关键作用。
