ArticleDiabetes care2022
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
Article in Diabetes care, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 46 citations in OpenAlex.
- High prevalence of maturity-onset diabetes of the young in the Czech Republic: A 25-year nationwide registry-based study.Diabetic medicine : a journal of the British Diabetic Association · 2026Article
- Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.Acta diabetologica · 2026Article
- Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY.The Journal of clinical endocrinology and metabolism · 2026Article
- Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).Orphanet journal of rare diseases · 2026Review
- Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular mechanisms and therapeutic potentials.Cell biology and toxicology · 2025Review
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.Nature metabolism · 2025Article
- Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients.The Journal of clinical endocrinology and metabolism · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
- Article
- Chinese carrier of theHeliyon · 2024Article
- Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young.BMC medical research methodology · 2024Article
- Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis.Scientific reports · 2024Article
- MODY Probability Calculator Is Suitable for MODY Screening in China: A Population-based Study.Journal of the Endocrine Society · 2024Article
- Identification of pathogenicMolecular genetics and metabolism reports · 2023Article
- 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
- Proof-of-concept Application of Continuous Glucose Monitoring Data Analytics to Identify Diabetes Glucotypes.Journal of the Endocrine Society · 2023Article
- Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.Journal of diabetes investigation · 2023Article
- Monogenic diabetes clinic (MDC): 3-year experience.Acta diabetologica · 2023Article
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8 authors at 3 institutions in 1 country.
Funding
Abstract
objectiveMaturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes. In 2009, >80% of U.K. cases were estimated to be misdiagnosed. Since then, there have been a number of initiatives to improve the awareness and detection of MODY, including education initiatives (Genetic Diabetes Nurse [GDN] project), the MODY probability calculator, and targeted next-generation sequencing (tNGS). We examined how the estimated prevalence of MODY and other forms of monogenic diabetes diagnosed outside the neonatal period has changed over time and how the initiatives have impacted case finding. RESEARCH DESIGN AND
methodsU.K. referrals for genetic testing for monogenic diabetes diagnosed >1 year of age from 1 January 1996 to 31 December 2019 were examined. Positive test rates were compared for referrals reporting GDN involvement/MODY calculator use with those that did not.
resultsA diagnosis of monogenic diabetes was confirmed in 3,860 individuals, more than threefold higher than 2009 (1 January 1996 to 28 February 2009, n = 1,177). Median age at diagnosis in probands was 21 years. GDN involvement was reported in 21% of referrals; these referrals had a higher positive test rate than those without GDN involvement (32% vs. 23%, P < 0.001). MODY calculator usage was indicated in 74% of eligible referrals since 2014; these referrals had a higher positive test rate than those not using the calculator (33% vs. 25%, P = 0.001). Four hundred ten (10.6%) cases were identified through tNGS. Monogenic diabetes prevalence was estimated to be 248 cases/million (double that estimated in 2009 because of increased case finding).
conclusionsSince 2009, referral rates and case diagnosis have increased threefold. This is likely to be the consequence of tNGS, GDN education, and use of the MODY calculator.
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