Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

The American Journal of Human Genetics - Tập 108 - Trang 1231-1238 - 2021
David Dimmock1, Sara Caylor1, Bryce Waldman1, Wendy Benson1, Christina Ashburner2, Jason L. Carmichael2, Jeanne Carroll1,3, Elaine Cham4, Shimul Chowdhury1, John Cleary5, Arthur D’Harlingue4, A. Doshi1,3, Katarzyna Ellsworth1, Carolina I. Galarreta2, Charlotte Hobbs1, Kathleen Houtchens4, Juliette Hunt5, Priscilla Joe4, Maries Joseph2, Robert H. Kaplan6
1Rady Children’s Institute for Genomic Medicine, San Diego, CA 92130, USA
2Valley Children’s Hospital, Madera, CA 93636, USA
3University of California San Diego, San Diego, CA 92093, USA
4University of California, San Francisco, Benioff Children’s Hospital Oakland, Oakland, CA 94609, USA
5Children’s Hospital of Orange County, Orange, CA 92868, USA
6Torrey Pines Health Group, Inc., San Diego, CA 92037, USA

Tài liệu tham khảo

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