Precision diagnosis for monogenic diabetes requires ethnicity specific criteria for genetic testing

Abstract The detection of monogenic diabetes illustrates the potential of precision medicine, with treatments tailored to specific genes and diagnosis involving targeted genetic testing. Current detection criteria are derived from White populations. We investigated detection of monogenic diabetes in an unselected multiethnic cohort comprising 1,706 participants diagnosed with diabetes before the age of 30-years. Using broad biomarker criteria (triple pancreatic antibody negative and detectable C-peptide) to select for next generation sequencing of monogenic diabetes genes, we found a non-significantly different minimum cohort prevalence of monogenic diabetes of 2.1% in White, 2.0% in South Asian, 2.5% in African-Caribbean, and 3.6% in Mixed participants. The detection rate, however, varied significantly (17.7% in White, 5.3%in South Asian, 8.0% in African-Caribbean, and 15.2% in Mixed participants, p