Genetic sequencing for pediatric neurodevelopmental disorders

1. Haendel M, Vasilevsky N, Unni D, et al. Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y. 2. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi:10.1126/scitranslmed.3010076. 3. Manickam K, McClain MR, Demmer LA, et al. 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). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242. 4. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2022 Oct 24. doi:10.1002/jgc4.1646. 5. Rodan LH, et al. Pediatrics. 2025; e2025072219. doi:10.1542/peds.2025-072219. 6. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Nov;21(11):2413-2421. doi:10.1038/s41436-019-0554-6. 6. Internal data. 7. Clark MM, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16. 8. Dillon OJ, Lunke S, Stark Z, et al. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018 May;26(5):644-651. doi:10.1038/s41431-018-0099-1. 8. Rehm HL, Alaimo JT, Aradhya S, et al. The landscape of reported VUS in multigene panel and genomic testing: time for a change. Genet Med. 2023;25(12):100947. doi:10.1016/j.gim.2023.100947.

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*Case study is based on GeneDx patient testing, with all identifying information removed.