Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.
Eur J Hum Genet. 2018 Nov;26(11):1566-1571. doi: 10.1038/s41431-018-0203-6. Epub 2018 Jun 29.
Clinical application of whole-exome and whole-genome sequencing (WES and WGS) has led to an increasing interest in how it could drive healthcare decisions. As with any healthcare innovation, implementation of next-generation sequencing in the clinic raises questions on affordability and costing impact for society as a whole. We retrospectively analyzed medical records of 370 patients with ID who had undergone WES at various stages of their diagnostic trajectory. We collected all medical interventions performed on these patients at the University Medical Center Utrecht (UMCU), Utrecht, the Netherlands. We categorized the patients according to their WES-based preliminary diagnosis ("yes", "no", and "uncertain"), and assessed the per-patient healthcare activities and corresponding costs before (pre) and after (post) genetic diagnosis. The WES-specific diagnostic yield among the 370 patients was 35% (128 patients). Pre-WES costs were €7.225 on average. Highest average costs were observed for laboratory-based tests, including genetics, followed by consults. Compared to pre-WES costs, the post-WES costs were on average 80% lower per patient, irrespective of the WES-based diagnostic outcome. Application of WES results in a considerable reduction of healthcare costs, not just in current settings, but even more so when applied earlier in the diagnostic trajectory (genetics-first). In such context, WES may replace less cost-effective traditional technologies without compromising the diagnostic yield. Moreover, WES appears to harbor an intrinsic "end-of-trajectory" effect; regardless of the diagnosis, downstream medical interventions decrease substantially in both number and costs.
全外显子组和全基因组测序（WES 和 WGS）的临床应用引起了人们越来越多的兴趣，人们想知道它如何能推动医疗决策。与任何医疗创新一样，下一代测序在临床上的应用引发了人们对其是否负担得起以及对整个社会的成本影响的质疑。我们回顾性分析了在不同诊断阶段接受 WES 检测的 370 名 ID 患者的病历。我们收集了荷兰乌得勒支大学医学中心（UMCU）对这些患者进行的所有医疗干预措施。我们根据 WES 初步诊断结果（“是”、“否”和“不确定”）对患者进行分类，并评估了遗传诊断前后（预）每位患者的医疗活动和相应费用。370 名患者中，WES 的特定诊断率为 35%（128 名患者）。WES 前的平均费用为 7.225 欧元。实验室检测（包括遗传学）和咨询的平均费用最高。与 WES 前的费用相比，WES 后的费用平均每位患者降低了 80%，与 WES 诊断结果无关。WES 的应用可显著降低医疗成本，不仅在当前环境下如此，而且在诊断过程早期（先进行遗传学检测）应用时更是如此。在这种情况下，WES 可能会取代成本效益较低的传统技术，而不会影响诊断率。此外，WES 似乎具有内在的“终结轨迹”效应；无论诊断结果如何，下游医疗干预的数量和成本都会大幅减少。
