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),Genetics in Medicine

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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)
Genetics in Medicine ( IF 6.6 ) Pub Date : 2021-07-01 , DOI: 10.1038/s41436-021-01242-6
Kandamurugu Manickam _{1,

2} , Monica R McClain ₃ , Laurie A Demmer ₄ , Sawona Biswas ₅ , Hutton M Kearney ₆ , Jennifer Malinowski ₇ , Lauren J Massingham _{8,

9} , Danny Miller ₁₀ , Timothy W Yu _{11,

12} , Fuki M Hisama ₁₃ ,

Affiliation

Division of Genetic and Genomic Medicine, Department of Pediatrics, Nationwide Children's Hospital, Columbus, OH, USA.
The Ohio State University College of Medicine, Columbus, OH, USA.
Scientific and Strategic Affairs, Evidera | PPD, Waltham, MA, USA.
Division of Medical Genetics, Department of Pediatrics, Atrium Health's Levine Children's Hospital, Charlotte, NC, USA.
Division of Adult Genetics, Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Write Inscite, LLC, South Salem, NY, USA.
Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA.
Alpert School of Medicine at Brown University, Providence, RI, USA.
MEPAN Foundation, Corte Madera, CA, USA.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Harvard Medical School, Boston, MA, USA.
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.

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.

中文翻译：

先天性异常或智力障碍儿科患者的外显子组和基因组测序：美国医学遗传学和基因组学学院 (ACMG) 的循证临床指南

目的

制定基于证据的临床实践指南，以使用外显子组和基因组测序 (ES/GS) 治疗患有一种或多种先天性异常 (CA) 且在 1 岁之前发病或发育迟缓 (DD) 的儿科患者或在 18 岁之前发病的智力障碍 (ID)。

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) 的建议分级评估、开发和评估 (GRADE) 证据决策 (EtD) 框架) 系统审查和安大略省卫生技术评估，以制定和提出证据摘要和医疗保健建议。在获得 ACMG 董事会批准之前，该文件经过了广泛的内部和外部同行评审以及公众意见。