用于检测新生儿及其母亲单核苷酸多态性 m.1555A>G 的 Genedrive 套件:系统综述和成本效益分析。

IF 3.5 2区 医学 Q1 HEALTH CARE SCIENCES & SERVICES
Hosein Shabaninejad, Ryan Pw Kenny, Tomos Robinson, Akvile Stoniute, Hannah O'Keefe, Madeleine Still, Christopher Thornton, Fiona Pearson, Fiona Beyer, Nick Meader
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引用次数: 0

摘要

背景:疑似败血症的新生儿通常使用氨基糖苷类药物庆大霉素治疗。这些抗生素与m.1555A>G线粒体基因变异者发生耳毒性(包括双侧极重度耳聋)的高风险有关:本早期价值评估总结并严格评估了 Genedrive MT-RNR1 ID 检测试剂盒的临床有效性和成本效益,该试剂盒用于鉴定需要使用抗生素或预计需要使用抗生素的新生儿和新生儿母亲的基因 m.1555A>G 变异。根据范围界定研讨会和专家评估分组会议的反馈意见,我们还考虑使用 Genedrive MT-RNR1 ID Kit 在分娩前鉴定母亲的 m.1555A>G 变异:关于临床有效性,我们在 2022 年 10 月检索了三个主要数据库:MEDLINE、EMBASE 和 CINAHL(护理和联合健康文献累积索引)。关于成本效益,除上述三个数据库外,我们还检索了 Cochrane 和 RePEc-IDEAS:研究选择和偏倚风险评估由两名独立评审员(Ryan PW Kenny 和 Akvile Stoniute 负责临床有效性,Hosein Shabaninejad 和 Tomos Robinson 负责成本效益)进行。任何分歧均通过讨论或由第三位审稿人(Nick Meader)解决:使用诊断准确性研究质量评估-2对偏倚风险进行评估。一项研究(n = 751 名招募的新生儿)被纳入临床有效性审查,没有研究被纳入成本效益审查。除一项结果(测试失败率:低偏倚风险)外,其他结果均被评为中度偏倚风险。该研究报告了检测的准确性(灵敏度 100%,95% 置信区间为 29.2% 至 100%;特异性 99.2%,95% 置信区间为 98% 至 99.7%)、成功检测的新生儿人数(n = 424/526)、检测失败率(17.1%,但已降至 5.7%)、对抗生素使用的影响(所有 m.1555 A>G 基因型的新生儿都避免了使用氨甲喋呤。A>G基因型的新生儿均避免使用氨基糖苷类药物)、获取样本所需时间(6分钟)、基因分型所需时间(26分钟)、抗生素治疗所需时间(55.18分钟)以及m.1555A>G基因型新生儿的数量(n = 3):这项工作的经济学部分发现了一些关键的证据缺口,在进行稳健的经济学评估前需要进一步的数据。其中包括 Genedrive MT-RNR1 ID Kit 鉴定新生儿基因 m.1555A>G 变异的灵敏度、m.1555A>G 新生儿氨基糖苷类药物诱发听力损失的风险大小以及 m.1555A>G 变异的患病率。其他潜在的重要差距包括如何在临床路径中使用母体遗传数据:这一早期价值评估表明,Genedrive MT-RNR1 ID 套件具有识别 m.1555A>G 变异的潜力和成本效益。由于 Genedrive MT-RNR1 ID 套件成本更低、效果更好,因此在整个生命周期内,它在目前的标准治疗方法中占主导地位。在 50 年的时间跨度内,Genedrive MT-RNR1 ID 套件也是占主导地位的策略。在 10 年的时间跨度内,每获得质量调整生命年的增量成本效益比估计为 103 英镑。尽管如此,正如预期的那样,目前还没有足够的证据对 Genedrive MT-RNR1 ID 套件直接用于新生儿或其母亲的临床有效性和成本效益进行全面的诊断评估。本报告包括一份研究重点清单,以减少早期价值评估的不确定性,并提供全面诊断评估(包括成本效益建模)所需的额外数据:本研究注册为 PROSPERO (CRD42022364770):该奖项由美国国家健康与护理研究所(NIHR)的证据合成计划(NIHR奖项编号:NIHR135636)资助,全文发表于《健康技术评估》(Health Technology Assessment)第28卷第75期。更多奖项信息请参阅 NIHR Funding and Awards 网站。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genedrive kit for detecting single nucleotide polymorphism m.1555A>G in neonates and their mothers: a systematic review and cost-effectiveness analysis.

Background: Neonates with suspected sepsis are commonly treated with gentamicin, an aminoglycoside. These antibiotics are associated with high risk of ototoxicity, including profound bilateral deafness, in people with the m.1555A>G mitochondrial genetic variant.

Objective: This early value assessment summarised and critically assessed the clinical effectiveness and cost-effectiveness of the Genedrive MT-RNR1 ID Kit for identifying the gene m.1555A>G variant in neonates and mothers of neonates needing antibiotics or anticipated to need antibiotics. Following feedback from the scoping workshop and specialist assessment subgroup meeting, we also considered the Genedrive MT-RNR1 ID Kit for identifying the m.1555A>G variant in mothers prior to giving birth.

Data sources: For clinical effectiveness, we searched three major databases in October 2022: MEDLINE, EMBASE and CINAHL (Cumulative Index to Nursing and Allied Health Literature). For cost-effectiveness, in addition to the three mentioned databases we searched Cochrane and RePEc-IDEAS.

Study selection: Study selection and risk-of-bias assessment were conducted by two independent reviewers (Ryan PW Kenny and Akvile Stoniute for clinical effectiveness and Hosein Shabaninejad and Tomos Robinson for cost-effectiveness). Any differences were resolved through discussion, or by a third reviewer (Nick Meader).

Study appraisal: Risk of bias was assessed using Quality Assessment of Diagnostic Accuracy Studies-2. One study (n = 751 neonates recruited) was included in the clinical effectiveness review and no studies were included in the cost-effectiveness review. All except one outcome (test failure rate: low risk of bias) were rated as being at moderate risk of bias. The study reported accuracy of the test (sensitivity 100%, 95% confidence interval 29.2% to 100%; specificity 99.2%, 95% confidence interval 98% to 99.7%), number of neonates successfully tested (n = 424/526 admissions), test failure rate (17.1%, although this was reduced to 5.7%), impact on antibiotic use (all those with a m.1555A>G genotype avoided aminoglycosides), time taken to obtain a sample (6 minutes), time to genotyping (26 minutes), time to antibiotic treatment (55.18 minutes) and the number of neonates with m.1555A>G (n = 3).

Limitations: The economic component of this work identified key evidence gaps for which further data are required before a robust economic evaluation can be conducted. These include the sensitivity of the Genedrive MT-RNR1 ID Kit for identifying the gene m.1555A>G variant in neonates, the magnitude of risk for aminoglycoside-induced hearing loss in neonates with m.1555A>G, and the prevalence of the m.1555A>G variant. Other potentially important gaps include how data regarding maternal inheritance may potentially be used in the clinical pathway.

Conclusions: This early value assessment suggests that the Genedrive MT-RNR1 ID Kit has the potential to identify the m.1555A>G variant and to be cost-effective. The Genedrive MT-RNR1 ID Kit dominates the current standard of care over the lifetime, as it is less costly and more effective. For a 50-year time horizon, the Genedrive MT-RNR1 ID Kit was also the dominant strategy. For a 10-year time horizon, the incremental cost-effectiveness ratio was estimated to be £103 per quality-adjusted life-year gained. Nevertheless, as anticipated, there is insufficient evidence to conduct a full diagnostic assessment of the clinical effectiveness and cost-effectiveness of the Genedrive MT-RNR1 ID Kit in neonates directly or in their mothers. This report includes a list of research priorities to reduce the uncertainty around this early value assessment and to provide the additional data needed to inform a full diagnostic assessment, including cost-effectiveness modelling.

Study registration: This study is registered as PROSPERO (CRD42022364770).

Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Evidence Synthesis programme (NIHR award ref: NIHR135636) and is published in full in Health Technology Assessment; Vol. 28, No. 75. See the NIHR Funding and Awards website for further award information.

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来源期刊
Health technology assessment
Health technology assessment 医学-卫生保健
CiteScore
6.90
自引率
0.00%
发文量
94
审稿时长
>12 weeks
期刊介绍: Health Technology Assessment (HTA) publishes research information on the effectiveness, costs and broader impact of health technologies for those who use, manage and provide care in the NHS.
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