The application of precision medicine in monogenic diabetes

Introduction: Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a single gene and may account for 1-2% of all clinical forms of diabetes. To date, more than 40 loci have been associated with either isolated or syndromic monogenic diabetes. Areas covered: While the request of a genetic test is mandatory for cases with diabetes onset in the first 6 months of life, a decision may be difficult for childhood or adolescent diabetes. In an effort to assist the clinician in this task, we have grouped monogenic diabetes genes according to the age of onset (or incidental discovery) of hyperglycemia and described the additional clinical features found in syndromic diabetes. The therapeutic options available are reviewed. Expert opinion: Technical improvements in DNA sequencing allow for rapid, simultaneous analysis of all genes involved in monogenic diabetes, progressively shrinking the area of unsolved cases. However, the complexity of the analysis of genetic data requires close cooperation between the geneticist and the diabetologist, who should play a proactive role by providing a detailed clinical phenotype that might match a specific disease gene.

Automated summary

Monogenic diabetes is a form of diabetes caused by a mutation in a single gene, with over 40 loci associated with isolated or syndromic monogenic diabetes. While genetic testing is mandatory for cases with diabetes onset in the first 6 months of life, decision-making for childhood or adolescent diabetes can be challenging. Technical improvements in DNA sequencing allow for rapid analysis of all genes involved in monogenic diabetes, but the analysis of genetic data requires close cooperation between geneticists and diabetologists.