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综述:基因组学时代的儿童精神病学:转化遗传学研究对临床的前景。

Review: Child Psychiatry in the Era of Genomics: The Promise of Translational Genetics Research for the Clinic.

作者信息

Fitzpatrick Sarah E, Antony Irene, Nurmi Erika L, Fernandez Thomas V, Chung Wendy K, Brownstein Catherine A, Gonzalez-Heydrich Joseph, Gur Raquel E, Merner Amanda R, Lázaro-Muñoz Gabriel, State Matthew W, Simon Kevin M, Hoffman Ellen J

机构信息

Yale School of Medicine, New Haven, Connecticut.

Harvard Medical School, Boston, Massachusetts.

出版信息

JAACAP Open. 2024 Aug 9;3(2):157-170. doi: 10.1016/j.jaacop.2024.06.002. eCollection 2025 Jun.


DOI:10.1016/j.jaacop.2024.06.002
PMID:40520982
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12166933/
Abstract

OBJECTIVE: There has been remarkable progress in recent years in understanding the genetic underpinnings of child psychiatric disorders. Concurrently, genetic testing is becoming increasingly available in the clinic. However, many clinicians report a lack of familiarity with genetics and how genetic testing might inform a clinical evaluation. This review aims to introduce clinicians to cutting-edge research in child psychiatric genetics and discuss the emerging role of genetic tests in clinical practice. METHOD: This review highlights major findings presented at the Research Institute of the 69th American Academy of Child and Adolescent Psychiatry Annual Meeting. RESULTS: An overview of critical genetic concepts for clinicians is provided along with a discussion of recent advances in child psychiatric genetics, focusing on autism spectrum disorder, where whole exome sequencing has led to the identification of approximately 250 high-confidence risk genes. The review describes how similar approaches to gene discovery are beginning to shed light on the genetic architecture of early-onset psychosis, Tourette's disorder, obsessive-compulsive disorder, and other disorders. In addition, the practical limitations of pharmacogenetic testing, ethical considerations, and barriers to clinical genetic testing are discussed. Finally, the promise of genetic research for advancing understanding of the pathophysiology of these disorders is illustrated. CONCLUSION: This review aims to improve clinicians' knowledge of how genetic findings might inform clinical evaluation and management of child psychiatric disorders and the potential for groundbreaking research in the field to shape the development of new treatments. DIVERSITY & INCLUSION STATEMENT: One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented racial and/or ethnic groups in science. We actively worked to promote sex and gender balance in our author group.

摘要

目的:近年来,在理解儿童精神障碍的遗传基础方面取得了显著进展。与此同时,基因检测在临床中越来越普及。然而,许多临床医生表示对遗传学以及基因检测如何为临床评估提供信息缺乏了解。本综述旨在向临床医生介绍儿童精神遗传学的前沿研究,并讨论基因检测在临床实践中的新兴作用。 方法:本综述重点介绍了在第69届美国儿童和青少年精神病学会年会研究所上发表的主要研究结果。 结果:为临床医生提供了关键遗传概念的概述,并讨论了儿童精神遗传学的最新进展,重点是自闭症谱系障碍,全外显子测序已导致识别出约250个高置信度风险基因。该综述描述了类似的基因发现方法如何开始揭示早发性精神病、抽动秽语综合征、强迫症和其他疾病的遗传结构。此外,还讨论了药物遗传学检测的实际局限性、伦理考虑因素以及临床基因检测的障碍。最后,阐述了基因研究在推进对这些疾病病理生理学理解方面的前景。 结论:本综述旨在提高临床医生对基因研究结果如何为儿童精神障碍的临床评估和管理提供信息的认识,以及该领域开创性研究对塑造新治疗方法发展的潜力。 多样性与包容性声明:本文的一位或多位作者自我认定为科学领域中一个或多个历史上代表性不足的种族和/或族裔群体的成员。我们积极努力在作者群体中促进性别平衡。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5649/12166933/d62e2664a047/gr4.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5649/12166933/3e6e66f0ef60/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5649/12166933/b187231bc51a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5649/12166933/dbed9615c7d0/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5649/12166933/d62e2664a047/gr4.jpg

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本文引用的文献

[1]
Autism spectrum disorder in ICD-11-a critical reflection of its possible impact on clinical practice and research.

Mol Psychiatry. 2024-3

[2]
Data-driven science and diversity in the All of Us Research Program.

Sci Transl Med. 2023-12-13

[3]
Child and adolescent psychiatrists' use, attitudes, and understanding of genetic testing and pharmacogenetics in clinical practice.

Psychiatry Res. 2023-7

[4]
Children with Early-Onset Psychosis Have Increased Burden of Rare Variants.

Genes (Basel). 2023-3-23

[5]
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.

Clin Pharmacol Ther. 2023-7

[6]
Racial Disparities in Autism Diagnosis, Assessment, and Intervention among Minoritized Youth: Sociocultural Issues, Factors, and Context.

Curr Psychiatry Rep. 2023-5

[7]
High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways.

Cell Rep. 2023-3-28

[8]
Co-Occurrence of Tic Disorders and Attention-Deficit/Hyperactivity Disorder-Does It Reflect a Common Neurobiological Background?

Biomedicines. 2022-11-17

[9]
Knowing and accepting oneself: Exploring possibilities of self-awareness among working autistic young adults.

Autism. 2023-7

[10]
Looking through rainbow-rimmed glasses: Taking neurodiversity perspective is related to subjective well-being of autistic adults.

Autism. 2023-7

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