Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.

ABSTRACT: The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic conditions. Despite the expanding clinical literature, there is a significant paucity of health economics evidence to inform the prioritization and implementation of genomic sequencing. This study aims to evaluate whether genomic sequencing for pediatric-onset mitochondrial disorders (MDs) is cost-effective and cost-beneficial relative to conventional care from an Australian healthcare system perspective. Two independent and complementary health economic modeling approaches were used. Approach 1 used a decision tree to model the costs and outcomes associated with genomic sequencing and conventional care. Approach 2 used a discrete-event simulation to incorporate heter

SUBMITTER: Wu Y 

PROVIDER: S-EPMC9090793 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature