Purpose of review: 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.
Recent findings: 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.
Keywords: CEA; Cost-effectiveness; Genetic testing; MODY; Monogenic diabetes.