ArticleDiabetes care2019
The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
Article in Diabetes care, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.Reviews in endocrine & metabolic disorders · 2022Pooled it
- Genetic variants and characterization of MODY in a single, large pediatric referral center.Journal of clinical & translational endocrinology · 2025Article
- Obesity as a Risk Factor for Hyperglycemia, Electrolyte Disturbances, and Acute Kidney Injury in the Emergency Department.Biomedicines · 2025Article
- Are Trends in Economic Modeling of Pediatric Diabetes Mellitus up to Date with the Clinical Practice Guidelines and the Latest Scientific Findings?Journal of health economics and outcomes research · 2025Article
- Novel variants of monogenic diabetes and impact of genetic diagnosis on treatment strategies.Frontiers in medicine · 2025Article
- Actionability of Genetic Variants in Diabetes: Core Aspects and Applied Examples.Diabetes spectrum : a publication of the American Diabetes Association · 2025Article
- Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Monogenic diabetes.Nature reviews. Disease primers · 2023Review
- Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2023Article
- Rapid Point-of-Care Test for Determination of C-Peptide Levels.Journal of diabetes science and technology · 2022Article
- Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience.Diabetology & metabolic syndrome · 2021Article
- The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.Journal of personalized medicine · 2021Article
- Cost Effectiveness of Teplizumab for Prevention of Type 1 Diabetes Among Different Target Patient Groups.PharmacoEconomics · 2020Article
- Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From aDiabetes care · 2020Review
- Clinical Genetic Screening in Adult Patients with Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.Nature metabolism · 2020Article
- Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveIn the U.S., genetic testing for maturity-onset diabetes of the young (MODY) is frequently delayed because of difficulty with insurance coverage. Understanding the economic implications of clinical genetic testing is imperative to advance precision medicine for diabetes. The objective of this article is to assess the cost-effectiveness of genetic testing, preceded by biomarker screening and followed by cascade genetic testing of first-degree relatives, for subtypes of MODY in U.S. pediatric patients with diabetes. RESEARCH DESIGN AND
methodsWe used simulation models of distinct forms of diabetes to forecast the clinical and economic consequences of a systematic genetic testing strategy compared with usual care over a 30-year time horizon. In the genetic testing arm, patients with MODY received treatment changes (sulfonylureas for HNF1A- and HNF4A-MODY associated with a 1.0% reduction in HbA
resultsThe strategy of biomarker screening and genetic testing was cost-saving as it increased average quality of life (+0.0052 QALY) and decreased costs (-$191) per simulated patient relative to the control arm. Adding cascade genetic testing increased quality-of-life benefits (+0.0081 QALY) and lowered costs further (-$735).
conclusionsA combined strategy of biomarker screening and genetic testing for MODY in the U.S. pediatric diabetes population is cost-saving compared with usual care, and the addition of cascade genetic testing accentuates the strategy's benefits. Widespread implementation of this strategy could improve the lives of patients with MODY while saving the health system money, illustrating the potential population health benefits of personalized medicine.
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