The University of Chicago Medicine, 5841 S Maryland Ave, MC 5053, Chicago, IL, 60637, USA.
Curr Diab Rep. 2019 Mar 27;19(5):23. doi: 10.1007/s11892-019-1140-7.
Monogenic diabetes is an uncommon but important form of diabetes, with the most common causes benefitting from management that accounts for the genetic mutation. This often results in decreased costs and treatment burden for affected individuals. Misdiagnosis as type 1 and type 2 diabetes is common. Given the significant burden of diabetes costs to the healthcare system, it is important to assess the economic impact of incorporating genetic testing for monogenic diabetes into clinical care through formal cost-effectiveness analyses (CEAs). This article briefly summarizes the barriers to timely monogenic diabetes diagnosis and then summarizes findings from CEAs on genetic testing for monogenic diabetes.
CEAs have shown that routine genetic testing of all patients with a clinical diagnosis of type 1 diabetes can be cost-saving when applied to the scenarios of neonatal diabetes or in a pediatric population. Routine screening has not been shown to be cost-effective in adult populations. However, next-generation sequencing strategies and applying biomarkers to identify and limit genetic testing to people most likely to have monogenic diabetes are promising ways to make testing strategies cost-effective. CEAs have shown that genetic testing for monogenic diabetes diagnosis can be cost-effective or cost-saving and should guide insurers to consider broader coverage of these tests, which would lead to accurate and timely diagnosis and impact treatment and clinical outcomes.
单基因糖尿病是一种罕见但重要的糖尿病形式，最常见的病因受益于针对基因突变的管理，这通常会降低受影响个体的成本和治疗负担。误诊为 1 型和 2 型糖尿病很常见。鉴于糖尿病给医疗保健系统带来的巨大负担，通过正式的成本效益分析（CEA）评估将单基因糖尿病基因检测纳入临床护理的经济影响非常重要。本文简要总结了及时诊断单基因糖尿病的障碍，然后总结了关于单基因糖尿病基因检测的 CEA 研究结果。
CEA 研究表明，对所有临床诊断为 1 型糖尿病的患者进行常规基因检测，如果应用于新生儿糖尿病或儿科人群，可以节省成本。常规筛查在成年人群中并未显示出成本效益。然而，下一代测序策略和应用生物标志物来识别并将基因检测限制在最有可能患有单基因糖尿病的人群中，是使检测策略具有成本效益的有希望的方法。CEA 研究表明，单基因糖尿病诊断的基因检测具有成本效益或可以节省成本，这应该促使保险公司考虑更广泛地覆盖这些检测，从而实现准确和及时的诊断，并影响治疗和临床结果。
