A meta-analysis of the diagnostic sensitivity and clinical utility of genome sequencing, exome sequencing and chromosomal microarray in children with suspected genetic diseases
作者： Michelle M. Clark , Zornitza Stark , Lauge Farnaes , Tiong Y. Tan , Susan M. White
DOI: 10.1101/255299
关键词: Odds ratio 、 DNA sequencing 、 Internal medicine 、 Microarray 、 Randomized controlled trial 、 Significant difference 、 Medicine 、 Meta-analysis 、 Genotype 、 Exome sequencing
摘要: IMPORTANCE: Genetic diseases are a leading cause of childhood mortality. Whole genome sequencing (WGS) and whole exome (WES) relatively new methods for diagnosing genetic diseases. OBJECTIVES: Compare the diagnostic sensitivity (rate causative, pathogenic or likely genotypes in known disease genes) rate clinical utility (proportion whom medical surgical management was changed by diagnosis) WGS, WES, chromosomal microarrays (CMA) children with suspected diseases. DATA SOURCES AND STUDY SELECTION: Systematic review literature (January 2011 - August 2017) studies and/or CMA diseases. 2% identified met selection criteria. DATA EXTRACTION SYNTHESIS: Two investigators extracted data independently following MOOSE/PRISMA guidelines. MAIN OUTCOMES MEASURES: Pooled rates 95% CI were estimated random-effects model. Meta-analysis diagnosis based on test type, family structure, site testing. RESULTS: In 36 observational series one randomized control trial, comprising 20,068 children, WGS (0.41, 0.34-0.48, I2=44%) WES (0.35, 0.31-0.39, I2=85%) qualitatively greater than (0.10, 0.08-0.12, I2=81%). Subgroup meta-analyses showed that significantly published 2017 (P<.0001, I2=13% I2=40%, respectively), featuring within-cohort comparisons (P<.001, I2=36%). Evidence significant difference lacking. singleton trio WGS/WES, likelihood trios (odds ratio 2.04, 1.62-2.56, I2=12%; P<.0001). The WGS/WES hospital-based interpretation 0.38-0.45, I2=50%) higher reference laboratories (0.28, 0.24-0.32, I2=81%); this meta-analysis (P=.004, I2=34% I2=26%, respectively). (0.27, 0.17-0.40, I2=54%) (0.18, 0.13-0.24, I2=77%) (0.06, 0.05-0.07, I2=42%); vs (P<.0001). CONCLUSIONS RELEVANCE: diseases, CMA. Subgroups those receiving interpretation. should be considered first-line genomic
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