ArticleEuropean journal of human genetics : EJHG2015
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018 · on this mapTrial
- 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
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- A Unique Phenotype of Maturity-Onset Diabetes of the Young With a Novel Disease-Causing Insulin Gene Variant.JCEM case reports · 2025Article
- Current views on etiology, diagnosis, epidemiology and gene therapy of maturity onset diabetes in the young.Frontiers in endocrinology · 2024Review
- 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
- Meta-analysis of HNF1A-MODY3 variants among human population.Journal of diabetes and metabolic disorders · 2022Review
- Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.Nutrients · 2022Review
- Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.International journal of molecular sciences · 2021Review
- Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.Frontiers in endocrinology · 2021Article
- The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY).Clinical diabetes and endocrinology · 2020Review
- Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.Oman medical journal · 2020Review
- Undiagnosed MODY: Time for Action.Current diabetes reports · 2015Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic testing for maturity-onset diabetes of the young (MODY) may be relevant for treatment and prognosis in patients with usually early-onset, non-ketotic, insulin-sensitive diabetes and for monitoring strategies in non-diabetic mutation carriers. This study describes the first 10 years of genetic testing for MODY in The Netherlands in terms of volume and test positive rate, medical setting, purpose of the test and age of patients tested. Some analyses focus on the most prevalent subtype, HNF1A MODY. Data were retrospectively extracted from a laboratory database. In total, 502 individuals were identified with a pathogenic mutation in HNF4A, GCK or HNF1A between 2001 and 2010. Although mutation scanning for MODY was used at an increasing rate, cascade testing was only used for one relative, on average, per positive index patient. Testing for HNF1A MODY was mostly requested by internists and paediatricians, often from regional hospitals. Primary care physicians and clinical geneticists rarely requested genetic testing for HNF1A MODY. Clinical geneticists requested cascade testing relatively more often than other health professionals. A substantial proportion (currently 29%) of HNF1A MODY probands was at least 40 years old at the time of testing. In conclusion, the number of individuals genetically tested for MODY so far in The Netherlands is low compared with previously predicted numbers of patients. Doctors' valuation of the test and patients' and family members' response to (an offer of) genetic testing on the other hand need to be investigated. Efforts may be needed to develop and implement translational guidelines.
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