Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageous. There are clinical challenges to this end, including improving case-finding strategies, and understanding the interpretation of genetic variants as pathogenic, with clinically meaningful impacts. The main application of precision medicine is in the use of sulfonylurea agents in neonatal diabetes caused by mutations in K-ATP channel components and MODY due to mutations in HN1A and HNF4A. These precision-based treatments not only achieve good glycemic control, but there is evidence demonstrating that they are superior to conventional approaches.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology