Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), Oxford, UK.
Genet Med. 2020 Jan;22(1):85-94. doi: 10.1038/s41436-019-0618-7. Epub 2019 Jul 30.
The translation of genome sequencing into routine health care has been slow, partly because of concerns about affordability. The aspirational cost of sequencing a genome is $1000, but there is little evidence to support this estimate. We estimate the cost of using genome sequencing in routine clinical care in patients with cancer or rare diseases.
We performed a microcosting study of Illumina-based genome sequencing in a UK National Health Service laboratory processing 399 samples/year. Cost data were collected for all steps in the sequencing pathway, including bioinformatics analysis and reporting of results. Sensitivity analysis identified key cost drivers.
Genome sequencing costs £6841 per cancer case (comprising matched tumor and germline samples) and £7050 per rare disease case (three samples). The consumables used during sequencing are the most expensive component of testing (68-72% of the total cost). Equipment costs are higher for rare disease cases, whereas consumable and staff costs are slightly higher for cancer cases.
The cost of genome sequencing is underestimated if only sequencing costs are considered, and likely surpasses $1000/genome in a single laboratory. This aspirational sequencing cost will likely only be achieved if consumable costs are considerably reduced and sequencing is performed at scale.
将基因组测序转化为常规医疗服务的进展缓慢，部分原因是人们对其费用负担能力存在担忧。测序一个基因组的理想费用为 1000 美元，但几乎没有证据支持这一估计。我们旨在评估在癌症或罕见病患者的常规临床护理中使用基因组测序的成本。
我们在英国国民保健署（NHS）的一个实验室中进行了一项基于 Illumina 的基因组测序的微观成本研究，该实验室每年处理 399 个样本。我们收集了测序途径中所有步骤的成本数据，包括生物信息学分析和结果报告。敏感性分析确定了关键的成本驱动因素。
每例癌症病例（包括配对的肿瘤和种系样本）的基因组测序费用为 6841 英镑，每例罕见病病例的测序费用为 7050 英镑。测序过程中使用的耗材是检测中最昂贵的部分（占总成本的 68-72%）。罕见病病例的设备成本较高，而癌症病例的耗材和人员成本略高。
如果仅考虑测序成本，那么基因组测序的成本被低估了，而且在单个实验室中测序成本可能超过 1000 美元/基因组。只有当耗材成本大幅降低且测序达到规模时，才有可能实现这一理想的测序成本。
