Diabetes mellitus, a term describing a group of disorders characterized by high blood sugar, affects nearly 30 million individuals in the United States and is a leading cause of death and disability. At least 1-2% of diabetes (approximately 300,000 to 600,000 individuals or more) results from a mutation in a single gene and is known as monogenic diabetes. For a number of reasons including clinical similarity, historically high testing cost, and lack of awareness, most cases, approximately 95%, of monogenic diabetes are misdiagnosed as the much more common and genetically more complex type 1 (T1DM) or type 2 diabetes (T2DM).
Having a correct diagnosis of monogenic diabetes can enable more personalized and often less invasive treatment, resulting in better glucose control, better prediction of disease course, and better prediction of diabetes risk in family members. For example, about half of those diagnosed with the rare condition of permanent diabetes in infancy have a specific genetic cause of their diabetes that enables effective treatment with oral medication alone rather than insulin injections, and 50% of their children are at risk for inheriting the same form of diabetes.