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September 2017

High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders

Author Affiliations
  • 1Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany
JAMA Pediatr. 2017;171(9):833-835. doi:10.1001/jamapediatrics.2017.1970

The yield of genetic testing methods has dramatically improved within the past few years, enabling the identification of genetic causes in common as well as rare and unusual phenotypes in an increasing proportion of patients. Thus, genetic testing has become part of the routine diagnostic workup for many disorders. The studies by Tan et al1 and Berg et al2 in this issue of JAMA Pediatrics demonstrate the dramatic effect of the diagnostic yield of different genetic testing approaches on cost-effectiveness and the potential design of testing strategies in children with suspected monogenic conditions.