Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada.
Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, Canada.
Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20.
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare activities prompted by WGS and CMA were ascertained for 101 children with developmental delay over 1 year. Activities following receipt of non-diagnostic CMA were compared to WGS diagnostic and non-diagnostic results. Activities were costed in 2016 Canadian dollars (CDN). Ongoing care accounted for 88.6% of post-test activities. The mean number of lab tests was greater following CMA than WGS (0.55 vs. 0.09; p = 0.007). The mean number of specialist visits was greater following WGS than CMA (0.41 vs. 0; p = 0.016). WGS results (diagnostic vs. non-diagnostic) modified the effect of test type on mean number of activities (p < 0.001). The cost of activities prompted by diagnostic WGS exceeded $557CDN for 10% of cases. In complex pediatric care, CMA prompted additional diagnostic investigations while WGS prompted tailored care guided by genotypic variants. Costs for prompted activities were low for the majority and constitute a small proportion of total test costs. Optimal use of WGS depends on robust evaluation of downstream care and cost consequences.
全基因组测序（WGS）的临床应用有望改变儿科医疗管理模式。本研究旨在描述与染色体微阵列（CMA）相比，儿科 WGS 后医疗保健活动的类型和成本。对 101 例发育迟缓超过 1 年的儿童进行了 WGS 和 CMA 后医疗保健活动的确定。比较了非诊断性 CMA 与 WGS 诊断和非诊断结果后的活动。活动成本以 2016 年加元（CDN）计算。在测试后，持续护理占后续活动的 88.6%。与 WGS 相比，CMA 后实验室检测的平均数量更多（0.55 比 0.09；p=0.007）。与 CMA 相比，WGS 后专科就诊的平均次数更多（0.41 比 0；p=0.016）。WGS 结果（诊断与非诊断）改变了测试类型对平均活动数量的影响（p<0.001）。诊断性 WGS 引发的活动费用超过 557 加元的病例占 10%。在复杂的儿科护理中，CMA 引发了额外的诊断性检查，而 WGS 则根据基因型变异引发了针对性的护理。大多数情况下，引发活动的成本较低，占总测试成本的一小部分。WGS 的最佳使用取决于对下游护理和成本后果的有力评估。
