The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Dragojlovic, Nick; Ghani, Aisha; Genereaux, Dallas; Kim, Ellen; Birch, Patricia; Adam, Shelin; Souich, Christèle du; Elliott, Alison M.; Lehman, Anna; Mwenifumbo, Jill; Nelson, Tanya N.; Friedman, Jan M.; Lynd, Larry D.

doi:10.1038/s41436-019-0635-6

Cited by 40 publications

(26 citation statements)

References 25 publications

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“…Owing to disease heterogeneity and unknown variant pathogenicity, about half of patients with rare genetic diseases never receive a causal diagnosis [ 3 , 4 ]. In addition to patient and family burden, a recent Canadian study found that healthcare systems spend up to $5600 per patient undergoing diagnostic testing and that parents accrue nearly $2000 in annual out-of-pocket costs [ 5 ]. Patients and families can undergo an extensive diagnostic odyssey without realizing any effective disease management or treatment strategies, with or without a genetic diagnosis [ 5 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

et al. 2021

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Genomic testing is becoming routine for diagnosing rare childhood genetic disease. Evidence underlying sustainable implementation is limited, focusing on short-term endpoints such as diagnostic yield, unable to fully characterize patient and family valued outcomes. Although genomic testing is becoming widely available, evidentiary and outcomes uncertainty persist as key challenges for implementation. We examine whether the current evidence base reflects public tolerance for uncertainty for genomics to diagnose rare childhood genetic disease. We conducted focus groups with general population parents in Vancouver, Canada, and Oxford, United Kingdom, to discuss expectations and concerns related to genomic testing to diagnose rare childhood genetic disease. Applying a purposive sampling technique, recruitment continued until thematic saturation was reached. Transcripts were analysed using thematic analysis. Thirty-three parents participated across four focus groups. Participants valued causal diagnoses alongside management strategies to improve patient health and wellbeing. Further, participants valued expanding the evidence base to reduce evidentiary uncertainty while ensuring security of information. Willingness to pay out of pocket for testing reflected perceived familial health benefit. Diagnostic yield fails to fully capture valued outcomes, and efforts to resolve uncertainty better reflect public priorities. Evaluations of genomic testing that fully integrate valued endpoints are necessary to ensure consistency with best practices and public willingness to accept the uncertain familial benefit.

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Section: Introductionmentioning

confidence: 99%

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

et al. 2021

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“…The duration of diagnostic testing for Standard was estimated from analysis of peer-reviewed studies (see Supplemental Online Appendix). 15,20,[26][27][28][29][30][31][32]…”

Section: Duration Of the Diagnostic Trajectorymentioning

confidence: 99%

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Incerti¹,

Xu²,

Chou³

et al. 2022

Genetics in Medicine

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To estimate the cost-effectiveness of genome sequencing (GS) for diagnosing critically ill infants and noncritically ill pediatric patients (children) with suspected rare genetic diseases from a United States health sector perspective. Methods: A decision-analytic model was developed to simulate the diagnostic trajectory of patients. Parameter estimates were derived from a targeted literature review and metaanalysis. The model simulated clinical and economic outcomes associated with 3 diagnostic pathways: (1) standard diagnostic care, (2) GS, and (3) standard diagnostic care followed by GS. Results: For children, costs of GS ($7284) were similar to that of standard care ($7355) and lower than that of standard care followed by GS pathways ($12,030). In critically ill infants, when cost estimates were based on the length of stay in the neonatal intensive care unit, the lowest cost pathway was GS

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“…The development in NGS methods and analysis, and progressively decreasing price of WES makes the method highly valuable in diagnostic path of children. In future studies, economic J o u r n a l P r e -p r o o f 12 evaluations from the societal perspective including also costs after WES should be conducted; a recent paper (26) finds that diagnosis-related physician consultations do not decline after a negative WES. In addition, the cost-effectiveness should be studied based on other more generic effectiveness measures, such as quality adjusted life years (QALYs).…”

Section: J O U R N a L P R E -P R O O F 11mentioning

confidence: 99%

Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

Aaltio

Hyttinen

Kortelainen

et al. 2022

European Journal of Paediatric Neurology

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The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Cited by 40 publications

References 25 publications

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

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