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In this issue we published 2 studies that examined genetic testing in diagnosing serious illnesses in children. In the first, Tan and colleagues examined 61 ambulatory children at a mean age of 28 months and provided 23 (52%) with diagnoses through singleton whole-exome sequencing. Eight diagnoses (35%) were unexpected and the sequencing was cost-saving.. The Editorial by Lemke discusses the use of high-throughput sequencing early in the diagnostic workup of children with early-onset disorders.
Editorial and Related Article
CME and Journal Club
In the second article on genetic testing, Berg et al studied 327 children younger than 3 years with newly diagnosed epilepsy with various forms of genetic testing and identified pathogenic variants in 131 (40%). The Editorial by Lemke also discusses these conclusions.
Highlights. JAMA Pediatr. 2017;171(9):823. doi:10.1001/jamapediatrics.2016.3129
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