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).

Autor: Manickam K; 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., McClain MR; Scientific and Strategic Affairs, Evidera | PPD, Waltham, MA, USA., Demmer LA; Division of Medical Genetics, Department of Pediatrics, Atrium Health's Levine Children's Hospital, Charlotte, NC, USA., Biswas S; Division of Adult Genetics, Department of Pathology, University of California San Francisco, San Francisco, CA, USA., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Malinowski J; Write Inscite, LLC, South Salem, NY, USA., Massingham LJ; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA.; Alpert School of Medicine at Brown University, Providence, RI, USA., Miller D; MEPAN Foundation, Corte Madera, CA, USA., Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Jazyk: angličtina
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2029-2037. Date of Electronic Publication: 2021 Jul 01.
DOI: 10.1038/s41436-021-01242-6
Abstrakt: 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.
(© 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics.)
Databáze: MEDLINE
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