2020
DOI: 10.2337/dci20-0065
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Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors’ Expert Forum

Abstract: Individualization of therapy based on a person’s specific type of diabetes is one key element of a “precision medicine” approach to diabetes care. However, applying such an approach remains difficult because of barriers such as disease heterogeneity, difficulties in accurately diagnosing different types of diabetes, multiple genetic influences, incomplete understanding of pathophysiology, limitations of current therapies, and environmental, social, and psychological factors. Monogenic diabetes, for which singl… Show more

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Cited by 84 publications
(69 citation statements)
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References 103 publications
(159 reference statements)
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“…Therefore, given the clinical and economic benefits of a timely diagnosis, it is critical to avoid potential delays between diabetes diagnosis and molecular confirmation of MODY, particularly in paediatric patients [26]. Our 12-year-long experience identified a prevalence of MODY of 6.5% among a population of children and adolescents newly diagnosed with diabetes.…”
Section: Discussionmentioning
confidence: 94%
“…Therefore, given the clinical and economic benefits of a timely diagnosis, it is critical to avoid potential delays between diabetes diagnosis and molecular confirmation of MODY, particularly in paediatric patients [26]. Our 12-year-long experience identified a prevalence of MODY of 6.5% among a population of children and adolescents newly diagnosed with diabetes.…”
Section: Discussionmentioning
confidence: 94%
“…Monogenic diabetes should be considered when a patient does not seem to fit with the clinical or laboratory criteria of type 1 or type 2 diabetes, especially in neonatal period, where monogenic diabetes is highly suspected (4) .…”
Section: Discussionmentioning
confidence: 99%
“…GCK is the beta cell glucose sensor and is also responsible for hepatic regulation of glucose release and storage (11) . Carriers of heterozygous mutations are asymptomatic and are diagnosed incidentally with laboratory testing or routine screening with hyperglycemia during childhood, pregnancy (most common) and acute infections (4,12) . On the other hand, homozygous mutations are associated with overt diabetes mostly in neonatal period.…”
Section: Discussionmentioning
confidence: 99%
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“…Additive models are most powerful when the effect of two copies of a risk allele is twice that of one copy. This model is computationally simple and statistically powerful, but it does not always match the pattern of inheritance of Mendelian disorders, including monogenic forms of diabetes, which can be transmitted in a dominant or recessive fashion (5).…”
Section: Introductionmentioning
confidence: 99%