title: Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
abstract: As the ability to identify the contribution of genetic background to human disease continues to advance, there is no discipline of medicine in which this may have a larger impact than in the care of the ill neonate. Newborns with congenital malformations, syndromic conditions, and inherited disorders often undergo an extensive, expensive, and long diagnostic process, often without a final diagnosis resulting in significant health care, societal, and personal costs. Although ethical concerns have been raised about the use of whole-genome sequencing in medical practice, its role in the diagnosis of rare disorders in ill neonates in tertiary care neonatal intensive care units has the potential to augment or modify the care of this vulnerable population of patients.
authors.affiliation: Department of Pediatrics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108 Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri 64108.
authors.forename: Laurie D
authors.initials: LD
authors.lastname: Smith
authors.affiliation: Department of Pediatrics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108 Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri 64108 Division of Pediatric Nephrology, Children's Mercy-Kansas City, Kansas City, Missouri 64108.
authors.forename: Laurel K
authors.initials: LK
authors.lastname: Willig
authors.affiliation: Department of Pediatrics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108 Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri 64108.
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Kingsmore
mesh_terms: D016638:Critical Illness; D004252:DNA Mutational Analysis / Q000379:methods / Q000639:trends; D042241:Early Diagnosis; D059472:Exome / Q000235:genetics*; D005544:Forecasting; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods / Q000639:trends; D015894:Genome, Human / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods* / Q000639:trends; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics; D015997:Neonatal Screening / Q000379:methods / Q000639:trends; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends