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首页> 外文期刊>Journal of the Canadian Academy of Child and Adolescent Psychiatry >Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again
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Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again

机译：全基因组测序作为自闭症谱系障碍的基因测试：从长凳到床边，然后再返回

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Autism spectrum disorder (ASD) is characterized by repetitive patterns of behaviour and impairments in social interactions and communication abilities. Although ASD is a heterogeneous disorder, it is a highly genetic condition for which genetic testing is routinely performed. Microarray analysis is currently the standard of care genetic test for ASD, however whole genome sequencing offers several key advantages and will likely replace microarrays as a frontline genetic test in the near future. The 2nd Consultation on Translation of Genomic Advances into Health Applications took place in the spring of 2014 to broadly explore the current and potential impacts of genomic advances in supporting personalized and family-centered care for autism and related developmental conditions. In anticipation of WGS becoming a standard of care test, we examine the policy landscape and highlight the lack of consistency among guidelines regarding what genomic information should be returned to patients and their families. We also discuss the need to create the infrastructure to share clinical WGS data with researchers in a systematic and ethically defensible manner.
机译：自闭症谱系障碍（ASD）的特征是行为重复模式以及社交互动和沟通能力受损。尽管ASD是一种异质性疾病，但它是一种高度遗传的疾病，需要对其进行常规的基因检测。目前，微阵列分析是ASD护理基因测试的标准，但是全基因组测序具有几个关键优势，并且在不久的将来有可能取代微阵列作为一线基因测试。 2014年春季，举行了第二次将基因组学进展转化为健康应用的咨询会，以广泛探讨基因组学进展对支持个性化和以家庭为中心的自闭症及相关发育状况的支持的当前和潜在影响。在预期WGS成为护理测试的标准时，我们检查了政策前景，并强调了指南中关于应向患者及其家属返还哪些基因组信息的准则之间缺乏一致性。我们还讨论了建立基础设施以与研究人员以系统性和道德上可辩护的方式共享临床WGS数据的必要性。

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