Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Maternal Fetal Medicine, Christus Mother Frances Hospital, Tyler, Texas, USA.
Am J Med Genet A. 2022 Jan;188(1):178-186. doi: 10.1002/ajmg.a.62517. Epub 2021 Sep 25.
Children with autism spectrum disorder (ASD) routinely undergo genetic testing (GT) to identify the causative genetic etiology of their ASD. As there are questions about the impact of GT beyond clinical diagnosis, we conducted a mixed methods study to assess the perceived benefits of GT by exploring factors that lead parents to pursue these tests and the benefits experienced. Respondents were part of a pretest or posttest group. The pretest group (N = 22) expressed intent to pursue GT and the posttest group (N = 32) had undergone GT and received results at least 3 months prior to completing the survey. Responses were compared between and within groups. Free text responses were coded for themes and selection questions were analyzed using Fisher's exact tests. Our results demonstrate significant differences between the groups with participants in the pretest group more likely to choose "increased access to therapies" (p = 0.026) and "improved healthcare" (p < 0.000) as reasons to pursue testing. Benefits were also significantly different with "improved healthcare" (p = 0.009), "improved access to services" (p = 0.012), and "improved access to therapies" (p = 0.003) more frequently anticipated by the pretest group than reported by the posttest group. A relationship between GT and clinical management changes was reported by 34.4-50.0% of the posttest group. Among that group, genetic result type (positive, negative, or variant of uncertain significance) was associated with differing perceived benefits of testing. Thematic analysis revealed increased knowledge and coping as reported benefits in both groups. Our findings indicate a discrepancy between parental expectations and experiences of GT. Comprehensive pretest and posttest genetic counseling are necessary to improve information retention, address potential outcomes, and set expectations of GT for parents of children with ASD.
患有自闭症谱系障碍 (ASD) 的儿童通常会接受基因检测 (GT)，以确定其 ASD 的致病遗传病因。由于 GT 除了临床诊断之外还有其他影响，我们进行了一项混合方法研究，通过探讨导致父母进行这些测试的因素以及所经历的益处，来评估 GT 的感知益处。受访者是预测试或后测试组的一部分。预测试组 (N=22) 表示有意进行 GT，后测试组 (N=32) 已经进行了 GT，并在完成调查前至少 3 个月收到了结果。对两组之间和组内的反应进行了比较。对自由文本回复进行了主题编码，并对选择问题使用 Fisher 精确检验进行了分析。我们的研究结果表明，两组之间存在显著差异，预测试组的参与者更有可能选择“增加获得治疗的机会”(p=0.026)和“改善医疗保健”(p<0.000)作为进行测试的原因。后测试组报告的好处也存在显著差异，“改善医疗保健”(p=0.009)、“改善获得服务的机会”(p=0.012)和“改善获得治疗的机会”(p=0.003)的可能性更大。34.4-50.0%的后测试组报告了 GT 与临床管理变化之间的关系。在后测试组中，基因检测结果类型(阳性、阴性或不确定意义的变异)与不同的测试益处感知相关。主题分析显示，两组都报告了增加的知识和应对能力作为益处。我们的研究结果表明，父母对 GT 的期望和经验之间存在差异。对有 ASD 儿童的父母进行全面的预测试和后测试遗传咨询是必要的，以提高信息保留率、解决潜在结果，并对 GT 设定父母的期望。
