Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.

IF 3.7 2区医学 Q2 GENETICS & HEREDITY Journal of Medical Genetics Pub Date : 2025-05-27 DOI:10.1136/jmg-2024-110463

Thanuja Selvanayagam, Ny Hoang, Ege Sarikaya, Jennifer Howe, Carolyn Russell, Alana Iaboni, Morgan Quirbach, Christian R Marshall, Peter Szatmari, Evdokia Anagnostou, Jacob Vorstman, Dean M Hartley, Stephen W Scherer

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Abstract

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.

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基因组测序在自闭症中的临床应用：来自基因组研究的说明性例子。

背景：遗传学是自闭症谱系障碍（ASD）的一个重要因素。临床指南支持在自闭症谱系障碍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。虽然基因检测在自闭症谱系障碍中的临床应用已经得到证实，但结果影响的广度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年参与ASD WGS研究的家庭的研究结果。对于重要的结果，我们将每个遗传发现的结果分为三个结果类别：(1)遗传诊断，(2)咨询益处和(3)对家庭的支持。结果：在获得基因组测序结果的202个家庭中，有100个家庭至少有一个与ASD相关的临床相关发现。通过详细的例子，我们展示了所有重要的结果都导致了基因诊断和咨询的好处。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说明性示例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Genetics 医学-遗传学

CiteScore

7.60

自引率

2.50%

发文量

审稿时长

4-8 weeks

期刊介绍： Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.