The diagnostic pathway in complex paediatric neurology: A cost analysis

Nimwegen, K.J.M. van; Schieving, Jolanda; Willemsen, M.A.A.P.; Veltman, Joris A.; Burg, Simone van der; Wilt, Gert Jan van der; Grutters, Janneke P.C.

doi:10.1016/j.ejpn.2014.12.014

Cited by 40 publications

(62 citation statements)

References 20 publications

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“…An initial study focused on retrospective cost analysis of patient resource use in a cohort of neurological patients and the potential application of WES. 13 The current study not only links the costs of patient diagnostics using traditional means but also reveals the higher yield and lower costs when actually implementing WES in a heterogeneous, difficultto-diagnose patient group. This knowledge is essential for clinical diagnostic centers considering WES implementation so that the cost for increased diagnostic yield can be ascertained and considered if WES is advantageous.…”

Section: Discussionmentioning

confidence: 82%

“…18 WES cost was estimated at $3,972 (€3,600) per trio for ease of comparison with previous studies. 13 This includes the costs of patient registration and blood draw, DNA isolation, sample preparation, exome enrichment, sequencing on an Illumina HiSeq 2500, interpretation, reporting of results, data storage, and infrastructure. All costs were indexed to 2014 levels using rates issued by the Dutch Healthcare Authority.…”

Section: Retrospective Cost Analysismentioning

confidence: 99%

“…12 A recent study assessed comprehensive costs of the traditional diagnostic pathway in a different group of patients, with complex pediatric neurological disorders. 13 However, a clear determination of the diagnostic yield when actually performing WES compared with traditional diagnostic procedures and costs was not made. Reliable information on all resources used in the current clinical and diagnostic pathway is crucial for clinical diagnostic centers considering implementing WES as a diagnostic tool.…”

Section: Introductionmentioning

confidence: 99%

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe

Frederix

Savelberg

et al. 2016

Genetics in Medicine

152

140

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Purpose: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients' diagnostic trajectory in order to evaluate early WES implementation. Methods:We compared 17 patients' trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with patient admittance and concluding with WES initiation. We calculated cost savings using scenario analyses to evaluate the costs replaced by WES when used as a first diagnostic tool.Results: WES resulted in diagnostically useful outcomes in 29.4% of patients. The entire traditional diagnostic trajectory average cost was $16,409 per patient, substantially higher than the $3,972 trio-WES cost. WES resulted in average cost savings of $3,547 for genetic and metabolic investigations in diagnosed patients and $1,727 for genetic investigations in undiagnosed patients. Conclusion:The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and costefficient option in patient diagnostics. This information is crucial for centers considering implementation of WES and serves as input for future value-based research into diagnostics. Genet Med advance online publication 4 February 2016

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Section: Discussionmentioning

confidence: 82%

Section: Retrospective Cost Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Monroe

Frederix

Savelberg

et al. 2016

Genetics in Medicine

152

140

View full text Add to dashboard Cite

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“…3,[31][32][33][34][35][36][37][38][39][40][41][42] Seven studies presented data on the costs of WES or WGS testing pathways, [24][25][26][27][43][44][45] and eight studies presented data on clinically relevant outcome measures for these tests. 5,6,[8][9][10][46][47][48] Of the eight full economic evaluations, two were CUAs 22,23 and six were CEAs, published between 2014 and 2017 in Australia (2), the United States (1), the UK (1), the Netherlands (1), and Canada (1).…”

Section: Study Characteristicsmentioning

confidence: 99%

“…There were no regional differences: the lowest cost estimates in North America (£736; $1,060) 44 and the rest of the world (£382; $555) 32 were similar, but far less with the higher cost estimates (£3,592; $5,169 in North America, 36,38 £3,401; $4,907 in the rest of the world). 40,41 Six studies estimated the cost of WGS, four of which used data from commercial sources. 24,26,28,43 Cost estimates ranged from £1,312 ($1,906) for sequencing using the HiSeq X in Germany 26 to £17,243 ($24,810) for an unspecified platform in Canada.…”

Section: Study Characteristicsmentioning

confidence: 99%

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Schwarze

Buchanan

Taylor

et al. 2018

Genetics in Medicine

401

198

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Purpose: We conducted a systematic literature review to summarize the current health economic evidence for wholeexome sequencing (WES) and whole-genome sequencing (WGS).Methods: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies.Results: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates. Conclusion:The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.Genet Med advance online publication 15 February 2018

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Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

et al. 2017

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IMPORTANCE Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding of who should be considered for testing and when it should be performed to maximize clinical utility and cost-effectiveness.OBJECTIVES To investigate the impact of WES in sequencing-naive children suspected of having a monogenic disorder and evaluate its cost-effectiveness if WES had been available at different time points in their diagnostic trajectory. DESIGN, SETTING, AND PARTICIPANTS This prospective study was part of the MelbourneGenomics Health Alliance demonstration project. At the ambulatory outpatient clinics of the Victorian Clinical Genetics Services at the Royal Children's Hospital, Melbourne, Australia, children older than 2 years suspected of having a monogenic disorder were prospectively recruited from May 1 through November 30, 2015, by clinical geneticists after referral from general and subspecialist pediatricians. All children had nondiagnostic microarrays and no prior single-gene or panel sequencing.EXPOSURES All children underwent singleton WES with targeted phenotype-driven analysis. MAIN OUTCOMES AND MEASURESThe study examined the clinical utility of a molecular diagnosis and the cost-effectiveness of alternative diagnostic trajectories, depending on timing of WES. RESULTSOf 61 children originally assessed, 44 (21 [48%] male and 23 [52%] female) aged 2 to 18 years (mean age at initial presentation, 28 months; range, 0-121 months) were recruited, and a diagnosis was achieved in 23 (52%) by singleton WES. The diagnoses were unexpected in 8 of 23 (35%), and clinical management was altered in 6 of 23 (26%). The mean duration of the diagnostic odyssey was 6 years, with each child having a mean of 19 tests and 4 clinical genetics and 4 nongenetics specialist consultations, and 26 (59%) underwent a procedure while under general anesthetic for diagnostic purposes. Economic analyses of the diagnostic trajectory identified that WES performed at initial tertiary presentation resulted in an

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The diagnostic pathway in complex paediatric neurology: A cost analysis

Cited by 40 publications

References 20 publications

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

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