基因组测序在自闭症中的临床应用：来自一项基因组研究的实例
Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.
作者信息
Selvanayagam Thanuja, Hoang Ny, Sarikaya Ege, Howe Jennifer, Russell Carolyn, Iaboni Alana, Quirbach Morgan, Marshall Christian R, Szatmari Peter, Anagnostou Evdokia, Vorstman Jacob, Hartley Dean M, Scherer Stephen W
机构信息
Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.
Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
出版信息
J Med Genet. 2025 May 27;62(6):413-421. doi: 10.1136/jmg-2024-110463.
BACKGROUND
Genetics is an important contributor to autism spectrum disorder (ASD). Clinical guidelines endorse genetic testing in the medical workup of ASD, particularly tests that use whole genome sequencing (WGS) technology. While the clinical utility of genetic testing in ASD is demonstrated, the breadth of impact of results can depend on the variant and/or gene being reported.
METHODS
We reviewed research results returned to families enrolled in our ASD WGS study between 2012 and 2023. For significant results, we grouped the outcome of each genetic finding into three outcome categories: (1) genetic diagnosis, (2) counselling benefits and (3) support to family.
RESULTS
Out of 202 families who received genome sequencing results, 100 had at least one clinically relevant finding related to ASD. With detailed examples, we show that all significant results led to a genetic diagnosis and counselling benefits.
CONCLUSION
Our findings show the relevance of genome sequencing in ASD and provide illustrative examples of how the information can be used.
背景
遗传学是自闭症谱系障碍（ASD）的一个重要成因。临床指南认可在ASD的医学检查中进行基因检测，特别是使用全基因组测序（WGS）技术的检测。虽然基因检测在ASD中的临床效用已得到证实，但其结果的影响范围可能取决于所报告的变异和/或基因。
方法
我们回顾了2012年至2023年间参与我们ASD WGS研究的家庭所收到的研究结果。对于有意义的结果，我们将每个基因发现的结果分为三个结果类别：（1）基因诊断，（2）咨询益处，以及（3）对家庭的支持。
结果
在202个收到基因组测序结果的家庭中，100个家庭至少有一项与ASD相关的临床相关发现。通过详细的例子，我们表明所有有意义的结果都带来了基因诊断和咨询益处。
结论
我们的研究结果显示了基因组测序在ASD中的相关性，并提供了如何使用这些信息的示例。
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