Department of Endocrinology and Diabetes, Lady Cilento Children's Hospital, South Brisbane, Queensland, Australia.
Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Woolloongabba, Queensland, Australia.
Diabetes Care. 2019 Jan;42(1):69-76. doi: 10.2337/dc18-0261. Epub 2018 Dec 6.
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of diabetes, with multiple causative genes. Some MODY subtypes can be treated with sulfonylureas instead of insulin, improving glycemic control, complication rates, quality of life (QoL), and costs. Using massively parallel sequencing (MPS), we recently determined the prevalence of pathogenic/likely pathogenic MODY variants in an Australian pediatric diabetes cohort. Here, these data are used to estimate cost-effectiveness of using MPS for MODY in all pediatric diabetes cases compared with standard practice (sequencing limited to individuals with specific clinical features).
A Markov decision model was developed to estimate incremental costs and quality-adjusted life-years (QALYs) of MPS screening, modeled over 30 years. We used our observed prevalence of 2.14% compared with 0.7% for standard practice, based on published data. The probabilities and utility weightings of long-term diabetes complications were based on HbA and estimated from published data. A series of one-way sensitivity analyses were performed using the net monetary benefit framework.
Routine MPS screening for MODY was more effective and less costly than standard care screening, with 26 QALYs gained and 1,016,000 AUD (782,000 USD) saved per 1,000 patients. Cost of screening was fully offset within 10 years. Routine MPS screening remained dominant until MODY prevalence fell to <1.1%.
Routine MPS screening for MODY in the pediatric population with diabetes could reduce health system costs and improve patient QoL. Our results make a compelling argument for routine genetic screening in all children with presumed type 1 diabetes mellitus.
青年发病型糖尿病（MODY）是一种常染色体显性遗传形式的糖尿病，有多种致病基因。一些 MODY 亚型可以用磺酰脲类药物治疗，而不是胰岛素，从而改善血糖控制、并发症发生率、生活质量（QoL）和成本。使用大规模平行测序（MPS），我们最近确定了澳大利亚儿科糖尿病队列中致病性/可能致病性 MODY 变异的流行率。在这里，这些数据用于估计在所有儿科糖尿病病例中使用 MPS 进行 MODY 的成本效益，与标准实践（仅限于具有特定临床特征的个体进行测序）相比。
开发了一个马尔可夫决策模型，以估计 MPS 筛查的增量成本和质量调整生命年（QALY），模型时间为 30 年。我们使用了我们观察到的患病率 2.14%，而标准实践为 0.7%，这是基于已发表的数据。长期糖尿病并发症的概率和效用权重基于 HbA，并从已发表的数据中估计。使用净货币收益框架进行了一系列单向敏感性分析。
常规 MPS 筛查 MODY 比标准护理筛查更有效且成本更低，每 1000 名患者可获得 26 个 QALY 和 101.6 万澳元（78.2 万美元）的节省。筛查成本在 10 年内完全收回。常规 MPS 筛查一直占主导地位，直到 MODY 患病率降至<1.1%。
在儿科糖尿病患者中常规进行 MPS 筛查可以降低卫生系统成本并提高患者的生活质量。我们的结果为在所有疑似 1 型糖尿病儿童中进行常规遗传筛查提供了强有力的论据。
