Genomic health calculator10/31/2022 Our findings support the prioritization of genomic sequencing for children with MDs. Genomic sequencing is cost-saving relative to traditional investigative approaches, while enabling more diagnoses to be made in a timely manner, offering substantial personal benefits to children and their families. Implementation of genomic sequencing for MDs in Australia could translate to an annual cost-saving of up to AU$0.7 million. The mean monetary value of the incremental benefits of genomic sequencing was estimated at AU$5890 (95% CI: AU$5730−$6046). Genomic sequencing was less costly and more effective compared with conventional care, saving AU$1997 (Approach 1) to AU$8823 (Approach 2) per child tested, while leading to an additional 11 (Approach 1) to 14 (Approach 2) definitive diagnoses per 100 children tested. Deterministic and probabilistic sensitivity analyses were performed. Approach 2 used a discrete-event simulation to incorporate heterogeneity in the condition and clinical practice. Approach 1 used a decision tree to model the costs and outcomes associated with genomic sequencing and conventional care. Two independent and complementary health economic modeling approaches were used. 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. Despite the expanding clinical literature, there is a significant paucity of health economics evidence to inform the prioritization and implementation of genomic sequencing. The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic conditions.
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