Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial
复制标题
DOI：
10.1038/gim.2018.35
复制
发表时间：
2018-12-01
影响因子：
8.8
通讯作者：
Kong, Sek Won
中科院分区：
文献类型：
--
作者：
Christensen, Kurt D.;Vassy, Jason L.;Kong, Sek Won
目的：与全基因组测序（WGS）的成本存在很大的不确定性：100名心脏病患者与心肌病诊断和100名表面上健康的初级保健患者随机接受家族史报告单独或与WGS报告。心脏病患者还审查了以前的基因检测结果。通过跟踪资源使用和工作人员时间来估计WGS成本。下游成本进行了估计，通过确定服务的行政数据，医疗记录，和患者调查6 months.Results：WGS测试的增量成本为每名患者的心脏病设置为5,098美元和5,073美元的初级保健设置相比，仅家族史。在两种情况下，对照组和WGS组之间的平均6个月下游成本没有统计学差异（心脏病学：差异= -1，560美元，95%置信区间-7，558美元至3，866美元，p = 0.36;初级保健：差异= 681美元，95%置信区间-884美元至2，171美元，p = 0.70）。情景分析表明，省略或限制的类型的次要结果的成本降低是小于69美元和182美元每例患者在心脏病学和初级care.Conclusion：WGS的短期成本是由测序和解释，而不是下游的医疗保健的成本。披露其他类型的次要调查结果在披露后对成本的影响有限。
Purpose: Great uncertainty exists about the costs associated with whole-genome sequencing (WGS).Methods: One hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months.Results: The incremental cost per patient of WGS testing was $ 5,098 in cardiology settings and $ 5,073 in primary care settings compared with family history alone. Mean 6-month downstream costs did not differ statistically between the control and WGS arms in either setting (cardiology: difference = -$ 1,560, 95% confidence interval -$ 7,558 to $ 3,866, p = 0.36; primary care: difference = $ 681, 95% confidence interval -$ 884 to $ 2,171, p = 0.70). Scenario analyses showed the cost reduction of omitting or limiting the types of secondary findings was less than $ 69 and $ 182 per patient in cardiology and primary care, respectively.Conclusion: Short-term costs of WGS were driven by the costs of sequencing and interpretation rather than downstream health care. Disclosing additional types of secondary findings has a limited cost impact following disclosure.