From Genetic Diagnosis to Individualized Care in Monogenic Diabetes: Evidence Gaps in Modern MODY Management

Abstract

Genetic variants affecting pancreatic β-cell function and glucose regulation cause heterogeneous disorders of monozygotic diabetes. Maturity-onset diabetes of the young (MODY) is an important subtype in which molecular prediction can influence medical management without delay. Many of the scientific features of MODY are difficult to discern, especially in late-onset diabetes, while the degree of genotype-directed treatment, continuous glucose monitoring, and management of pregnancy differs between subgroups. This review evaluates the latest evidence on genetic analysis, genotype-directed measures, non-stop glucose monitoring, and pregnancy in MODY, highlighting current clinical trial gaps. A focused search of Scopus for MODY, monogenetic diabetes, genetic diagnosis, treatments, continuous glucose monitoring, and pregnancy, prioritized recent English language studies posted after 2023, related phrases were used. Clinically active MODY subtypes that might not be recognized in other settings may be recognized by molecular diagnostics. While uninterrupted glucose monitoring can support glucose assessment and treatment evaluation, genotype-directed treatment choices have greater evidence than innovative alternatives. Pregnancy calls for extra care because monitoring may be impacted by maternal fetal genetics. Although there are still gaps in diagnosis, treatment selection, follow-up, and pregnancy treatment, molecular diagnostics is becoming more and more crucial for individualized MODY care. To improve precision breeding, genotype-level research is probably required.