自閉症基因突變類型高度複雜。
包括9類以上的複雜突變。
只有全基因組定序檢測
才能同時確認這些突變，
進而提高診斷的成功率。

五分鐘聆聽 (英語) - “自閉症之聲” "我們建議被診斷患有自閉症的人，進行基因檢測" - 科學高級總監、遺傳學

自閉症基因檢測 - Genetic Testing for Autism 家迪恩哈特利 (Dean Hartley)。

自閉症基因檢測 - Genetic Testing for Autism

我們建議任何被診斷患有自閉症的人進行基因檢測。

目前的基因檢測
無法為每個人提供答案，
但如果沒有基因檢測，
我們將無法向自閉症患者
或家庭提供可以解釋自閉症的原因
和未來可能的醫療狀況。

This “Got Questions?” answer is by geneticist Dean Hartley, Autism Speaks’ Senior Director of Discovery and Translational Science.

By Dean Hartley, Autism Speaks’ Senior Director of Discovery and Translational Science

自閉症基因檢測有時可以改變人生 - 這些檢測並不總是能產生結果，但它們提供的資訊有時可以改變治療過程或預防方法. 以改變治療過程或預防方法.

BY JESSICA WRIGHT & SPECTRUM. © 2024 SCIENTIFIC AMERICAN, A DIVISION OF SPRINGER NATURE AMERICA, INC.

為什麼基因檢測對自閉症患者很重要

自閉症基因檢測，
並不總是產生結果，
但它們提供的資訊
可以改變(自閉症兒童人生)。

BY JESSICA WRIGHT. 30 JANUARY 2019.

U.S. CDC - 美國疾病管制與預防中心: Genetic testing and autism spectrum disorder

基因檢測可能找到自閉症譜系障礙 (ASD) 的遺傳原因：

如果您的孩子
或其他家庭成員
患有自閉症譜系障礙；

如果基因檢測
已經找到家庭成員
有ASD 相關的基因突變；

或者多名家庭成員患有 ASD

2020_Seminars-in-Pediatrics. Semin Pediatr Neurol 34:100804. 2020

自閉症患者基因檢測 - 《臨床醫生實用指南》2020 兒科研討會。兒科神經學 34:100804. 2020年.

“Recently, whole genome sequencing has emerged as a favorite since all of the above testing, and more, can be performed at a lower total cost than individual test orders. Trio (child plus parents) sequencing is often indicated, especially in more “severe” cases in order to find new (de novo) variants not present in either parent.”

“Beyond diagnosis, genetic testing can oftentimes help elucidate potentially treatable risk factors that predispose the individual patient to develop disease. In this clinician’s experience, this information leads to improved outcomes in as many as one-half of cases.”

除了診斷之外，
基因檢測還可以幫助
闡明導致個別患者患病的潛在可治療風險因素……
這些信息可以改善多達一半的病例的結果。

Genes 2022, 13, 585.

遺傳和基因組測試
對自閉症譜系障礙患者的臨床管理。
《基因》2022, 13,585.

“Given the potential for clinically actionable results, it is important that genetic testing be available and accessible to all patients with ASD.”

“考慮到獲得臨床治療的可能性，
讓所有自閉症譜系障礙患者都得到基因檢測，
是非常重要的。”

“Although genetic testing does not guarantee a diagnosis in every patient, a positive result has the potential to influence a patient’s medical management. Whether it be via targeted screening and monitoring for comorbid conditions or through implementing pharmacologic or other medical interventions for symptom management, these result-based recommendations can drastically improve a patient’s quality of life and in some cases can be lifesaving.”

“It is anticipated that CMA (Clinical Microarray) and WES (Whole Exome Sequencing) will soon be combined because of improvements in accurate identification of CNVs (Copy Number Variants) using sequence data and that sequencing of the exome will be replaced by sequencing of the entire genome as issues with interpretation and cost become more manageable.”

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

先天性異常或智力障礙兒科患者
的外顯子組和基因組定序：
美國醫學遺傳學和基因組學學院
(ACMG) 的實證臨床指南。
Genetics in Medicine
醫學遺傳學 (2021) 23:2029–2037.

“We strongly recommend that ES (Exome Sequencing)/GS (Genome Sequencing) be considered as a first- or second-tier test for patients with CA (Congenital Abnormalities) / DD (Developmental Delay) / ID (Intellectual Disability).”

“我們建議將 ES（外顯子組測序）/GS（全基因組測序）
視為 CA（先天性異常）
/DD（發育遲緩）
/ID（智力障礙）
患者的第一步或第二步檢測。”

“This recommendation does include children with a diagnosis of autism without other delays.”

“這項建議包括了
被診斷為自閉症的兒童”

“Evaluation of ES (Exome Sequencing)/GS (Genome Sequencing) beyond CA (Congenital Abnormalities) and ID (Intellectual Disability) including for isolated autism, cardiomyopathies, muscular dystrophies, neuropathies, ataxias, epilepsies, and inherited cancers would be expected to demonstrate similar clinical utility.”

與CA（先天性異常）和ID（智力障礙）相比，
ES（外顯子組定序）/GS（全基因組定序）
對孤立性自閉症、心肌病變、
肌肉營養不良、神經病變、
共濟失調、
癲癇和遺傳性癌症的評估，
預計將證明類似的臨床效用。”

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

統合分析和多學科共識聲明：
外顯子定序是針對神經發育障礙患者
的第一步臨床診斷測試。
GENETICS in MEDICINE.
醫學遺傳學。
Volume 21, Number 11,
November 2019.

Genome sequencing (GS), by definition, captures more comprehensively all classes of genetic variants in testing. We anticipate that GS will eventually supersede ES and CMA (Clinical Microarray) in clinical testing algorithms over time, as cost decreases.

全基因組定序 (GS)
可以更全面地捕捉
測試中所有類別的遺傳變異。
我們預計，隨著時間的推移，
隨著成本的降低，
GS 最終將在臨床測試演算法中
取代 ES (外顯子定序)
和 CMA（臨床微陣列）。

This report will guide geneticists, neurologists, developmental pediatricians, child psychiatrists, and other clinicians in incorporating clinical exome or genome sequencing into the management of individuals with NDDs. (We defined NDD as global developmental delay, intellectual disability, and/or autism spectrum disorder).

報告指導遺傳學家、
神經科醫生、發育兒科醫生、
兒童精神病學家和其他臨床醫生，
將臨床外顯子組或全基因組測序，
納入 NDD 患者的管理中。
（我們將 NDD 定義為整體發展遲緩、
智力障礙和/或自閉症譜系障礙）。