The next generation is here now

Abstract

Children often ask, “Are we there yet?” Pediatricians should likewise inquire whether they have yet arrived at next-generation sequencing as first-line testing for children with certain conditions, such as brain anomalies. In this volume of The Journal, Heide et al drive us again to that destination. Their team screened 149 patients with both corpus callosum abnormality and intellectual disability and identified at least 1 copy number variant contributing to the phenotype in 13% of patients, plus variants of unknown significancein another 38% of patients. Their results affirm that array comparative genomic hybridization (microarray) should be performed in all patients with corpus callosum abnormality and intellectual disability. Even higher diagnostic yields approximating 25% have been reported in a landmark series of children with developmental delay and other physical dysmorphisms who undergo whole exome sequencing (JAMA 2014;312:1870-9, JAMA 2014;312:1880-7) This work demonstrates the necessity of pursuing the right test in the child with developmental delay plus physical anomalies, ie, a microarray, and if unrevealing, followed by whole exome sequencing. Regrettably, many third-party and state payors do not reimburse for microarray as the standard first-line test. But, we have arrived there. As costs decrease, our next first destination may soon be whole exome sequencing. Fasten your seatbelts. Article page 160 ▶ Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilityThe Journal of PediatricsVol. 185PreviewTo evaluate the role that chromosomal micro-rearrangements play in patients with both corpus callosum abnormality and intellectual disability, we analyzed copy number variations (CNVs) in patients with corpus callosum abnormality/intellectual disability Full-Text PDF