SLCO1B1(rs4149056)与他汀类药物相关的肌肉症状(SAMS)之间存在充分验证的关联。先发制人的SLCO1B1药物遗传学(PGx)检测可以通过在他汀类药物开始之前识别遗传风险增加的个体来减少SAMS的发生率。尽管其潜在的临床应用,SLCO1B1测试的成本影响在很大程度上是未知的。我们对参加临床护理中整合药物遗传学(I-PICC)研究的退伍军人患者进行了抢先SLCO1B1测试(PGx)与常规护理(PGx-)的成本-后果分析。评估是使用卫生系统观点和12个月的时间范围进行的。SLCO1B1测试和下游医疗保健的增量成本是使用美国退伍军人事务部“管理成本核算系统”的数据估算的。还开发了一个决策分析模型,以模拟10,000名退伍军人患者的假设队列中的1个月成本和SAMS相关结果。所有患者均开始服用辛伐他汀。超过12个月,在I-PICC研究中,有13.5%的PGx(26/193)和11.2%的PGx-(24/215)参与者服用了临床药物遗传学实施联盟(CPIC)指南一致的他汀类药物(Δ2.9%,95%CI-4.0%至10.0%)。血脂治疗处方的平均每位患者费用的差异,包括他汀类药物,PGx+与PGx-参与者相比无统计学意义(Δ9.53美元,95%CI-0.86至22.80美元)。可归因于干预的每位患者费用的差异,包括PGx测试,降脂处方,SAMS,实验室和成像费用,以及初级保健和心脏病学服务,也不显著(Δ-1004美元,95%CI-2684至1009美元)。在假设的队列中,SLCO1B1知情的他汀类药物治疗在1个月的随访中避免了109例肌痛和3例肌病。更少的他汀类药物停药(78vs.109)也被观察到,但与没有测试相比,SLCO1B1测试策略每位患者的成本高出96美元(124vs.28美元)。SLCO1B1测试的实施导致小,在现实世界的初级保健环境中,接受CPIC-一致他汀类药物处方的患者比例没有显着增加,减少了SAMS的发生率,在一个假设的10,000名患者队列中,减少了他汀类药物的停药。尽管有这些影响,作为独立测试进行的SLCO1B1测试在1个月或1年以上的治疗中并未降低每位患者的医疗保健费用。在其他经过充分验证的药物基因中,包括SLCO1B1,进入先发制人的基于小组的测试策略可能会提供更好的临床效益和成本的平衡。
There is a well-validated association between SLCO1B1 (rs4149056) and statin-associated muscle symptoms (SAMS). Preemptive SLCO1B1 pharmacogenetic (PGx) testing may diminish the incidence of SAMS by identifying individuals with increased genetic risk before statin initiation. Despite its potential clinical application, the cost implications of SLCO1B1 testing are largely unknown. We conducted a cost-consequence analysis of preemptive SLCO1B1 testing (PGx+) versus usual care (PGx-) among Veteran patients enrolled in the Integrating Pharmacogenetics in Clinical Care (I-PICC) Study. The assessment was conducted using a health system perspective and 12-month time horizon. Incremental costs of SLCO1B1 testing and downstream medical care were estimated using data from the U.S. Department of Veterans Affairs\' Managerial Cost Accounting System. A decision analytic model was also developed to model 1-month cost and SAMS-related outcomes in a hypothetical cohort of 10,000 Veteran patients, where all patients were initiated on simvastatin. Over 12 months, 13.5% of PGx+ (26/193) and 11.2% of PGx- (24/215) participants in the I-PICC Study were prescribed Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline-concordant statins (Δ2.9%, 95% CI -4.0% to 10.0%). Differences in mean per-patient costs for lipid therapy prescriptions, including statins, for PGx+ compared to PGx- participants were not statistically significant (Δ USD 9.53, 95% CI -0.86 to 22.80 USD). Differences in per-patient costs attributable to the intervention, including PGx testing, lipid-lowering prescriptions, SAMS, laboratory and imaging expenses, and primary care and cardiology services, were also non-significant (Δ- USD 1004, 95% CI -2684 to 1009 USD). In the hypothetical cohort, SLCO1B1-informed statin therapy averted 109 myalgias and 3 myopathies at 1-month follow up. Fewer statin discontinuations (78 vs. 109) were also observed, but the SLCO1B1 testing strategy was 96 USD more costly per patient compared to no testing (124 vs. 28 USD). The implementation of SLCO1B1 testing resulted in small, non-significant increases in the proportion of patients receiving CPIC-concordant statin prescriptions within a real-world primary care context, diminished the incidence of SAMS, and reduced statin discontinuations in a hypothetical cohort of 10,000 patients. Despite these effects, SLCO1B1 testing administered as a standalone test did not result in lower per-patient health care costs at 1 month or over 1 year of treatment. The inclusion of SLCO1B1, among other well-validated pharmacogenes, into preemptive panel-based testing strategies may provide a better balance of clinical benefit and cost.