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dc.contributor.authorYeung, Alison-
dc.contributor.authorTan, Natalie B-
dc.contributor.authorTan, Tiong Y-
dc.contributor.authorStark, Zornitza-
dc.contributor.authorBrown, Natasha-
dc.contributor.authorHunter, Matthew F-
dc.contributor.authorDelatycki, Martin B-
dc.contributor.authorStutterd, Chloe-
dc.contributor.authorSavarirayan, Ravi-
dc.contributor.authorMcgillivray, George-
dc.contributor.authorStapleton, Rachel-
dc.contributor.authorKumble, Smitha-
dc.contributor.authorDownie, Lilian-
dc.contributor.authorRegan, Matthew-
dc.contributor.authorLunke, Sebastian-
dc.contributor.authorChong, Belinda-
dc.contributor.authorPhelan, Dean-
dc.contributor.authorBrett, Gemma R-
dc.contributor.authorJarmolowicz, Anna-
dc.contributor.authorPrawer, Yael-
dc.contributor.authorValente, Giulia M-
dc.contributor.authorSmagarinsky, Yana-
dc.contributor.authorMartyn, Melissa-
dc.contributor.authorMcEwan, Callum-
dc.contributor.authorGoranitis, Ilias-
dc.contributor.authorGaff, Clara-
dc.contributor.authorWhite, Susan M-
dc.identifier.citationGenetics in Medicine 2020; 22(12): 1986-1993en
dc.description.abstractCost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort. Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013. GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (pā€‰=ā€‰0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs. GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.en
dc.subjectexome sequencingen
dc.subjectgenomic sequencingen
dc.titleA cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.en
dc.typeJournal Articleen
dc.identifier.journaltitleGenetics in Medicineen
dc.identifier.affiliationDepartment of Pediatrics, University of Melbourne, Melbourne, Australiaen
dc.identifier.affiliationMonash Genetics, Monash Health, Melbourne, Australiaen
dc.identifier.affiliationVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Australiaen
dc.identifier.affiliationAustralian Genomics Health Alliance, Melbourne, Australiaen
dc.identifier.affiliationCentre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australiaen
dc.identifier.affiliationMelbourne Genomics Health Alliance, Melbourne, Australiaen
dc.identifier.affiliationClinical Geneticsen
dc.identifier.affiliationDepartment of Pediatrics, Monash University, Melbourne, Australiaen
dc.identifier.pubmedid32773771, Martin B
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.openairecristype Genetics- Genetics-
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