Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada.
Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
Genet Med. 2022 May;24(5):1027-1036. doi: 10.1016/j.gim.2022.01.020. Epub 2022 Feb 24.
Genome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory workflows and microcosts of trio GS testing in children with developmental delay (DD) and in children with cardiac conditions.
Cost items related to each step in trio GS (child and 2 parents) for both populations were identified and measured. Program costs over 5 years were estimated. Probabilistic and deterministic analyses were conducted.
The mean cost per trio GS was CAD$6634.11 (95% CI = 6352.29-6913.40) for DD and CAD$8053.10 (95% CI = 7699.30-8558.10) for cardiac conditions. The 5-year program cost was CAD$28.11 million (95% CI = 26.91-29.29) for DD and CAD$5.63 million (95% CI = 5.38-5.98) for cardiac conditions. Supplies constituted the largest cost component for both populations. The higher cost per sample for the population with cardiac conditions was due to the inclusion of pharmacogenomics, higher bioinformatics labor costs, and a more labor intensive case review.
This analysis indicated important variation in trio GS workflow and costs between pediatric populations in a single institution. Enhanced understanding of the clinical utility and costs of GS can inform harmonization and implementation decision-making.
基因组测序（GS）可以帮助管理多种儿科疾病。保险公司需要准确的成本信息来为资金和实施决策提供信息。本研究旨在比较儿童发育迟缓（DD）和心脏疾病儿童 trio GS 测试的实验室工作流程和微成本。
确定并测量了每个步骤的成本项目（儿童和 2 位家长），并估计了 5 年内的项目成本。进行了概率和确定性分析。
DD 组和心脏疾病组的 trio GS 每个测试组的平均成本分别为 6634.11 加元（95%CI=6352.29-6913.40）和 8053.10 加元（95%CI=7699.30-8558.10）。5 年内的项目成本分别为 2811 万加元（95%CI=26.91-29.29）和 563 万加元（95%CI=5.38-5.98）。对于这两个群体，供应品构成了最大的成本部分。心脏疾病群体的每个样本成本更高，是因为包含了药物基因组学、更高的生物信息学劳动力成本以及更劳动密集型的病例审查。
本分析表明，单一机构内不同儿科人群的 trio GS 工作流程和成本存在重要差异。对 GS 的临床实用性和成本的深入了解可以为协调和实施决策提供信息。
