Sagoo G S, Mohammed S, Barton G, Norbury G, Ahn J W, Ogilvie C M, Kroese M
PHG Foundation, 2 Worts Causeway, Cambridge, UK,
Appl Health Econ Health Policy. 2015 Aug;13(4):421-32. doi: 10.1007/s40258-015-0172-7.
To undertake a cost-effectiveness analysis of using microarray comparative genomic hybridisation (array-CGH) as a first-line test versus as a second-line test for the diagnosis of causal chromosomal abnormalities in patients referred to a NHS clinical genetics service in the U.K. with idiopathic learning disability, developmental delay and/or congenital anomalies.
A cost-effectiveness study was conducted. The perspective is that of a U.K. NHS clinical genetics service provider (with respect to both costs and outcomes). A cohort of patients (n = 1590) referred for array-CGH testing of undiagnosed learning disability and developmental delay by a single NHS regional clinical genetics service (South East Thames Regional Genetics Service), were split into a before-and-after design where 742 patients had array-CGH as a second-line test (before group-comparator intervention) and 848 patients had array-CGH as a first-line test (after group-evaluated intervention). The mean costs were calculated from the clinical genetics testing pathway constructed for each patient including the costs of genetic testing undertaken and clinical appointments scheduled. The outcome was the number of diagnoses each intervention produced so that a mean cost-per-diagnosis could be calculated. The cost effectiveness of the two interventions was calculated as an incremental cost-effectiveness ratio to produce an incremental cost-per-diagnosis (in 2013 GBP). Sensitivity analyses were conducted by altering both costs and effects to check the validity of the outcome.
The incremental mean cost of testing patients using the first-line testing strategy was -GBP241.56 (95% CIs -GBP256.93 to -GBP226.19) and the incremental mean gain in the percentage diagnoses was 0.39% (95% CIs -2.73 to 3.51%), which equates to an additional 1 diagnosis per 256 patients tested. This cost-effectiveness study comparing these two strategies estimates that array-CGH first-line testing dominates second-line testing because it was both less costly and as effective. The sensitivity analyses conducted (adjusting both costs and effects) supported the dominance of the first-line testing strategy (i.e. lower cost and as effective).
The first-line testing strategy was estimated to dominate the second-line testing strategy because it was both less costly and as effective. These findings are relevant to the wider UK NHS clinical genetics service, with two key strengths of this study being the appropriateness of the comparator interventions and the direct applicability of the patient cohort within this study and the wider UK patient population.
对在英国国家医疗服务体系（NHS）临床遗传学服务机构就诊的、患有特发性学习障碍、发育迟缓及/或先天性异常的患者，采用微阵列比较基因组杂交技术（array-CGH）作为一线检测手段与作为二线检测手段来诊断致病性染色体异常进行成本效益分析。
开展了一项成本效益研究。研究视角为英国NHS临床遗传学服务提供者（在成本和结果方面）。由单一NHS地区临床遗传学服务机构（东南泰晤士地区遗传学服务机构）转诊进行未确诊学习障碍和发育迟缓的array-CGH检测的一组患者（n = 1590），被分为前后设计，其中742例患者将array-CGH作为二线检测手段（前组 - 对照干预），848例患者将array-CGH作为一线检测手段（后组 - 评估干预）。平均成本是根据为每位患者构建的临床遗传学检测路径计算得出的，包括所进行的基因检测成本和安排的临床预约成本。结果是每种干预措施产生的诊断数量，以便能够计算出平均每诊断成本。两种干预措施的成本效益以增量成本效益比来计算，得出增量每诊断成本（以2013年英镑计）。通过改变成本和效果进行敏感性分析，以检验结果的有效性。
采用一线检测策略检测患者的增量平均成本为 -241.56英镑（95%置信区间为 -256.93至 -226.19英镑），诊断百分比的增量平均增益为0.39%（95%置信区间为 -2.73至3.51%），这相当于每检测25
