Open AccessRapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*
Author(s) -
Erica Sanford,
Michelle M. Clark,
Lauge Farnaes,
Matthew R. Williams,
James C. Perry,
Elizabeth Ingulli,
Nathaly M. Sweeney,
Ami Doshi,
Jeffrey J. Gold,
Benjamin Briggs,
Matthew N. Bainbridge,
Michele Feddock,
Kelly Watkins,
Shimul Chowdhury,
Shareef Nahas,
David Dimmock,
Stephen F. Kingsmore,
Nicole G. Coufal
Publication year - 2019
Publication title -
pediatric critical care medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.299
H-Index - 87
eISSN - 1947-3893
pISSN - 1529-7535
DOI - 10.1097/pcc.0000000000002056
Subject(s) - medicine , medical diagnosis , pediatrics , retrospective cohort study , pediatric intensive care unit , genetic testing , psychological intervention , cohort , intensive care medicine , psychiatry , pathology
Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admission. Rapid whole genome sequencing is an emerging method of diagnosing genetic conditions in time to affect ICU management of neonates; however, its clinical utility has yet to be adequately demonstrated in critically ill children. This study evaluates next-generation sequencing in pediatric critical care.