School of Pharmacy, Memorial University of Newfoundland, St. John's, Canada.
Health Services and Systems Research, Duke NUS Medical School, Singapore.
J Med Genet. 2017 Nov;54(11):747-753. doi: 10.1136/jmedgenet-2017-104670. Epub 2017 Aug 23.
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.
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.
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.
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.
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。
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。
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。
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。