先证者和三人家系外显子组和基因组分析在罕见病中的成本：一项微观成本研究。

The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.

机构信息

Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Women's and Children's Division, Southern Adelaide Local Health Network, Australia.

Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.

出版信息

Genet Med. 2024 Apr;26(4):101058. doi: 10.1016/j.gim.2023.101058. Epub 2023 Dec 30.

DOI:10.1016/j.gim.2023.101058

PMID:38164890

Abstract

PURPOSE

Rare disease genomic testing is a complex process involving various resources. Accurate resource estimation is required for informed prioritization and reimbursement decisions. This study aims to analyze the costs and cost drivers of clinical genomic testing.

METHODS

Based on genomic sequencing workflows we microcosted limited virtual panel analysis on exome sequencing backbone, proband and trio exome, and genome testing for proband and trio analysis in 2023 Australian Dollars ($). Deterministic and probabilistic sensitivity analyses were undertaken.

RESULTS

Panel testing costs AUD $2373 ($733-$6166), and exome sequencing costs $2823 ($802-$7206) and $5670 ($2006-$11,539) for proband and trio analysis, respectively. Genome sequencing costs $4840 ($2153-$9890) and $11,589 ($5842-$16,562) for proband and trio analysis. The most expensive cost component of genomic testing was sequencing (36.9%-69.4% of total cost), with labor accounting for 27.1%-63.2% of total cost.

CONCLUSION

We provide a comprehensive analysis of rare disease genomic testing costs, for a range of clinical testing types and contexts. This information will accurately inform economic evaluations of rare disease genomic testing and decision making on policy settings that assist with implementation, such as genomic testing reimbursement.

摘要

目的

罕见病基因组检测是一个复杂的过程，涉及各种资源。准确的资源估计对于明智的优先级排序和报销决策是必要的。本研究旨在分析临床基因组检测的成本和成本驱动因素。

方法

基于基因组测序工作流程，我们在 2023 年澳大利亚元（$）中对有限的虚拟面板分析进行了微成本核算，涉及外显子组测序骨干、先证者和三亲子组外显子组以及先证者和三亲子组分析的基因组检测。进行了确定性和概率敏感性分析。

结果

面板检测成本为 2373 澳元（733-6166 美元），外显子组测序成本分别为 2823 澳元（802-7206 美元）和 5670 澳元（2006-11539 美元）用于先证者和三亲子组分析，基因组测序成本分别为 4840 澳元（2153-9890 美元）和 11589 澳元（5842-16562 美元）用于先证者和三亲子组分析。基因组检测中最昂贵的成本组成部分是测序（占总成本的 36.9%-69.4%），而劳动力占总成本的 27.1%-63.2%。