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新加坡基于算法的遗传检测与不检测青少年发病的成年型糖尿病(MODY)的增量成本效益。

Incremental cost-effectiveness of algorithm-driven genetic testing versus no testing for Maturity Onset Diabetes of the Young (MODY) in Singapore.

机构信息

School of Pharmacy, Memorial University of Newfoundland, St. John's, Canada.

Health Services and Systems Research, Duke NUS Medical School, Singapore.

出版信息

J Med Genet. 2017 Nov;54(11):747-753. doi: 10.1136/jmedgenet-2017-104670. Epub 2017 Aug 23.

DOI:10.1136/jmedgenet-2017-104670
PMID:28835481
Abstract

BACKGROUND

Offering genetic testing for Maturity Onset Diabetes of the Young (MODY) to all young patients with type 2 diabetes has been shown to be not cost-effective. This study tests whether a novel algorithm-driven genetic testing strategy for MODY is incrementally cost-effective relative to the setting of no testing.

METHODS

A decision tree was constructed to estimate the costs and effectiveness of the algorithm-driven MODY testing strategy and a strategy of no genetic testing over a 30-year time horizon from a payer's perspective. The algorithm uses glutamic acid decarboxylase (GAD) antibody testing (negative antibodies), age of onset of diabetes (<45 years) and body mass index (<25 kg/m if diagnosed >30 years) to stratify the population of patients with diabetes into three subgroups, and testing for MODY only among the subgroup most likely to have the mutation. Singapore-specific costs and prevalence of MODY obtained from local studies and utility values sourced from the literature are used to populate the model.

RESULTS

The algorithm-driven MODY testing strategy has an incremental cost-effectiveness ratio of US$93 663 per quality-adjusted life year relative to the no testing strategy. If the price of genetic testing falls from US$1050 to US$530 (a 50% decrease), it will become cost-effective.

CONCLUSION

Our proposed algorithm-driven testing strategy for MODY is not yet cost-effective based on established benchmarks. However, as genetic testing prices continue to fall, this strategy is likely to become cost-effective in the near future.

摘要

背景

为所有 2 型糖尿病年轻患者提供青年发病的成年型糖尿病(MODY)基因检测已被证明不具有成本效益。本研究旨在检验针对 MODY 的新型算法驱动基因检测策略是否比不进行检测具有增量成本效益。

方法

从支付者的角度,通过构建决策树来估计算法驱动的 MODY 检测策略和不进行遗传检测策略在 30 年时间范围内的成本和效果。该算法使用谷氨酸脱羧酶(GAD)抗体检测(阴性抗体)、糖尿病发病年龄(<45 岁)和体重指数(如果确诊年龄>30 岁,则<25kg/m)将糖尿病患者分为三组,仅对最有可能发生突变的亚组进行 MODY 检测。新加坡特有的 MODY 患病率和成本来自当地研究,效用值则来自文献。

结果

与不进行检测策略相比,算法驱动的 MODY 检测策略的增量成本效益比为每质量调整生命年 93663 美元。如果基因检测价格从 1050 美元降至 530 美元(降低 50%),则该策略将具有成本效益。

结论

根据既定标准,我们提出的 MODY 算法驱动检测策略尚未具有成本效益。然而,随着基因检测价格的持续下降,该策略在不久的将来可能会具有成本效益。

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