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Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
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Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
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Journal Article
Should next-generation sequencing be considered as a first-line genetic investigation for children with early developmental impairment?
2025
Overview
[...]with NGS, there is an increased likelihood of finding variants of unknown significance, which may further confound the diagnostic process.6 Furthermore, challenges exist in accessing WES and WGS, due to its high cost, potential need for obtaining parental samples (to benefit variant interpretation through trio analysis) and in the UK, a more involved requesting and consenting process.7 We, therefore, reviewed the current literature comparing microarray and WES/WGS as first-line genetic tests for children presenting with EDI. Citation Study group Study type Outcome Key result Comments Srivastava S et al10 78 children referred to a neurogenetics clinic for investigation of previously unexplained neurodevelopmental disorders Retrospective cohort study (2b) Diagnostic rate of WES in children where previous investigations (microarray and trinucleotide repeat analysis±biochemical investigation) had not resulted in a diagnosis 41% Heterogeneous group of children, including EDI, intellectual disability, cerebral palsy (CP) and autism spectrum disorder (ASD) Liu Y et al11 94 children with undiagnosed developmental disorders attending a rehabilitation department Retrospective cohort study (2b) Diagnostic rate of WES 48.7% (93% of these had single nucleotide variants (SNVs) or small indels that would not be picked up by microarray) Cohort of children with undiagnosed developmental disorders, who may have already undergone previous investigations, but this is not specified. Diagnostic rate of WGS in children undiagnosed after undergoing WES 9.7% Ontario Health (Quality)9 People with unexplained developmental disabilities or multiple congenital anomalies Meta-analysis and primary economic evaluation (1a) Diagnostic yield of standard genetic testing (microarray±targeted single gene tests/panels) 24% (CI 14% to 38%) Heterogeneous group of patients with EDI and multiple congenital anomalies. Srivastava et al reported a change in management in all patients who were diagnosed with WES.10 For the majority (27 of 32), WES helped with reproductive planning, and for more than half (18 of 32), there was a direct change to patient care, such as change in medication, further investigations/monitoring, change in prognosis or informed about a clinical trial.10 Manickam and colleagues undertook a meta-analysis of children undergoing WES or WGS for diagnosis of intellectual disability or multiple congenital anomalies.7 In all children undergoing WES or WGS, 8% had a change in short-term management and 10% had a change in long-term management.7 Therefore, the increased diagnostic yield of WES and WGS is of benefit to patients and their families.
