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)
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)
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DOI：
10.1038/s41436-021-01242-6
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发表时间：
2021-07-01
影响因子：
8.8
通讯作者：
Hisama, Fuki M.
中科院分区：
文献类型：
--
作者：
Manickam, Kandamurugu;McClain, Monica R.;Hisama, Fuki M.
目的制定外显子组和基因组测序（ES/GS）在1岁以前发病的一种或多种先天性异常（CA）或18岁以前发病的发育迟缓（DD）或智力残疾（ID）儿科患者护理中的应用循证临床实践指南。方法儿科外显子组/基因组测序循证指南工作组（n = 10）使用基于最近美国医学遗传学和基因组学学院（ACMG）系统评价的建议评估、开发和评估（GRADE）证据到决策（EtD）框架，以及安大略卫生技术评估，以开发和提供证据摘要和医疗保健建议。在ACMG董事会批准之前，该文件经过了广泛的内部和外部同行审查以及公众意见。结果文献支持ES/GS对CA/DD/ID患者的积极和长期临床管理的临床实用性和理想效果，以及对家庭和生殖结局的相对较少的伤害。与标准基因检测相比，ES/GS具有更高的诊断率，并且在诊断评估的早期订购时可能更具成本效益。结论ES/GS可作为CA/DD/ID患者的一级或二级检测。
Purpose To develop an evidence-based clinical practice guideline for the use of exome and genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital anomalies (CA) with onset prior to age 1 year or developmental delay (DD) or intellectual disability (ID) with onset prior to age 18 years. Methods The Pediatric Exome/Genome Sequencing Evidence-Based Guideline Work Group (n = 10) used the Grading of Recommendations Assessment, Development and Evaluation (GRADE) evidence to decision (EtD) framework based on the recent American College of Medical Genetics and Genomics (ACMG) systematic review, and an Ontario Health Technology Assessment to develop and present evidence summaries and health-care recommendations. The document underwent extensive internal and external peer review, and public comment, before approval by the ACMG Board of Directors. Results The literature supports the clinical utility and desirable effects of ES/GS on active and long-term clinical management of patients with CA/DD/ID, and on family-focused and reproductive outcomes with relatively few harms. Compared with standard genetic testing, ES/GS has a higher diagnostic yield and may be more cost-effective when ordered early in the diagnostic evaluation. Conclusion We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.