Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
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Harrison, 2015, Epidemiologic Trends in Neonatal Intensive Care, 2007-2012, JAMA Pediatr., 169, 855, 10.1001/jamapediatrics.2015.1305
Harrison, 2018, Regional Variation in Neonatal Intensive Care Admissions and the Relationship to Bed Supply, J. Pediatr., 192, 73, 10.1016/j.jpeds.2017.08.028
Schulman, 2018, Association Between Neonatal Intensive Care Unit Admission Rates and Illness Acuity, JAMA Pediatr., 172, 17, 10.1001/jamapediatrics.2017.3913
Goodman, 2019, Neonatal Intensive Care Variation in Medicaid-Insured Newborns: A Population-Based Study, J. Pediatr., 209, 44, 10.1016/j.jpeds.2019.02.014
Dewey, 2018
Kingsmore, 2019, A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants, Am. J. Hum. Genet., 105, 719, 10.1016/j.ajhg.2019.08.009
Stevenson, 2004, Contribution of malformations and genetic disorders to mortality in a children’s hospital, Am. J. Med. Genet. A., 126A, 393, 10.1002/ajmg.a.20409
Petrikin, 2018, The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants, NPJ Genom. Med., 3, 6, 10.1038/s41525-018-0045-8
Sanford, 2019, Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU, Pediatr. Crit. Care Med., 20, 1007, 10.1097/PCC.0000000000002056
Clark, 2018, Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases, NPJ Genom. Med., 3, 16, 10.1038/s41525-018-0053-8
Farnaes, 2018, Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization, NPJ Genom. Med., 3, 10, 10.1038/s41525-018-0049-4
Willig, 2015, Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings, Lancet Respir. Med., 3, 377, 10.1016/S2213-2600(15)00139-3
Petrikin, 2015, Rapid whole genome sequencing and precision neonatology, Semin. Perinatol., 39, 623, 10.1053/j.semperi.2015.09.009
Clark, 2019, Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation, Sci. Transl. Med., 11, eaat6177, 10.1126/scitranslmed.aat6177
Mestek-Boukhibar, 2018, Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children, J. Med. Genet., 55, 721, 10.1136/jmedgenet-2018-105396
French, 2019, Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children, Intensive Care Med., 45, 627, 10.1007/s00134-019-05552-x
Dimmock, 2020, An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm, Am. J. Hum. Genet., 107, 942, 10.1016/j.ajhg.2020.10.003
Cakici, 2020, A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants, Am. J. Hum. Genet., 107, 953, 10.1016/j.ajhg.2020.10.004
Stark, 2016, A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders, Genet. Med., 18, 1090, 10.1038/gim.2016.1
Stark, 2019, Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness, Genet. Med., 21, 173, 10.1038/s41436-018-0006-8
Hayeems, 2017, Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray, Eur. J. Hum. Genet., 25, 1303, 10.1038/s41431-017-0020-3
Bick, 2017, Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic, J. Pediatr. Genet., 6, 61
2020
Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet. Med., 17, 405, 10.1038/gim.2015.30
Iglesias, 2016, Reporting Guidelines for the Use of Expert Judgement in Model-Based Economic Evaluations, Pharmacoeconomics, 34, 1161, 10.1007/s40273-016-0425-9
Smith, 2020, Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions, Genet. Med., 22, 1303, 10.1038/s41436-020-0798-1
Meng, 2017, Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management, JAMA Pediatr., 171, e173438, 10.1001/jamapediatrics.2017.3438
Gubbels, 2020, Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield, Genet. Med., 22, 736, 10.1038/s41436-019-0708-6
Wang, 2020, Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants, NPJ Genom. Med., 5, 20, 10.1038/s41525-020-0129-0
Freed, 2020, The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children, J. Pediatr., 10.1016/j.jpeds.2020.06.020
Carey, 2020, Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders, Pediatr. Res., 88, 761, 10.1038/s41390-020-0858-x
Lunke, 2020, Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, JAMA, 323, 2503, 10.1001/jama.2020.7671
Śmigiel, 2020, Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit, J. Clin. Med., 9, 2220, 10.3390/jcm9072220
Genetti, 2019, Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project, Genet. Med., 21, 622, 10.1038/s41436-018-0105-6