ArticleCommunications medicine2023
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Article in Communications medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 32 citations in OpenAlex.
- Glucocorticoid-Induced Hyperglycaemia in Hospital: The Insulin Dose Matters Most.Diabetes, obesity & metabolism · 2026Review
- 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
- Breakpoint-resolved balanced t(2;12)(q35;q24.31) disruptingMetabolism open · 2026Article
- Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.Journal of pediatric endocrinology & metabolism : JPEM · 2026Article
- Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes.International journal of molecular sciences · 2025Article
- Australian and New Zealand joint society consensus statement on genetic testing for monogenic diabetes in adults.The Medical journal of Australia · 2025Article
- Ethnic diversity in precision medicine: a reality or an aspiration?Diabetologia · 2025Review
- Development of a Chinese-Specific Clinical Model to Predict Maturity-Onset Diabetes of the Young.Diabetes/metabolism research and reviews · 2025Article
- Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.Journal of the Endocrine Society · 2025Article
- Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.Acta diabetologica · 2025Article
- Phenotypic and Genetic Diversity in Diabetes Across Populations.The Journal of clinical endocrinology and metabolism · 2025Review
- Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) - mechanisms, clinical spectrum, and unmet needs.Diabetology & metabolic syndrome · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Shortcut to the needle in the haystack? Screening for maturity onset diabetes of the young in a population of women with gestational diabetes.Diabetic medicine : a journal of the British Diabetic Association · 2025Article
- Neonatal and Syndromic Forms of Diabetes.Current diabetes reports · 2025Review
- Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.International journal of molecular sciences · 2025Article
- GLP-1R in diabetes mellitus: from basic discovery to therapeutics development.Frontiers in pharmacology · 2025Review
- A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors.Neuroendocrinology · 2025Article
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
- Novel variants of monogenic diabetes and impact of genetic diagnosis on treatment strategies.Frontiers in medicine · 2025Article
Corrections and comments
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Authors and funding
17 authors at 20 institutions in 26 countries.
Funding
Abstract
backgroundMonogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.
methodsPubmed and Embase databases were searched (1990-2022) using inclusion/exclusion criteria for studies that sequenced one or more monogenic diabetes genes in at least 100 probands (Question 1), evaluated a non-obsolete genetic testing method to diagnose monogenic diabetes (Question 2). The risk of bias was assessed using the revised QUADAS-2 tool. Existing guidelines were summarized for questions 3-5, and review of studies for questions 6-7, supplemented by expert recommendations. Results were summarized in tables and informed recommendations for clinical practice.
resultsThere are 100, 32, 36, and 14 studies included for questions 1, 2, 6, and 7 respectively. On this basis, four recommendations for who to test and five on how to test for monogenic diabetes are provided. Existing guidelines for variant curation and gene-disease validity curation are summarized. Reporting by gene names is recommended as an alternative to the term MODY. Key steps after making a genetic diagnosis and major gaps in our current knowledge are highlighted.
conclusionsWe provide a synthesis of current evidence and expert opinion on how to use precision diagnostics to identify individuals with monogenic diabetes.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.