Global perspectives on monogenic forms of diabetes.

ABSTRACT: Monogenic forms of diabetes represent an uncommon but very heterogeneous subset of the disease, with variable associated clinical features and key differences in treatment options. In this review, we discuss how advances in precision medicine and genomic sequencing have enhanced our understanding of the aetiology and clinical variability of monogenic diabetes. We highlight current global challenges, including the over-representation of individuals of European genetic ancestry in research studies, which complicates diagnosis in non-European populations, and national disparities in genetic testing strategies, which influence diagnostic accuracy. Additionally, we address issues in variant interpretation stemming from the increased understanding of variable penetrance in monogenic diabetes and

SUBMITTER: Russ-Silsby J 

PROVIDER: S-EPMC12534271 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature