The Maturity-Onset Diabetes of the Young (MODY) Calculator Overestimates MODY Probability in Hispanic Youth

Context: The applicability of the MODY risk calculator (Shields et al) to non- White European populations remains unknown.

Objective: We aimed to test its real-world application in Hispanic youth.

Methods: We conducted a retrospective chart review of Hispanic youth (<23 years) with diabetes (n=2033) in a large pediatric tertiary care center in the U.S. We calculated MODY probability for all subjects, splitting them into two cohorts based on the original model: Individuals who were started on insulin within 6 months of diabetes diagnosis (Cohort 1) and those who were not (Cohort 2).

Results: Cohort 1 consisted of 1566 individuals (median age [25p, 75p]: 16 [13, 19] years, 49% female), while Cohort 2 comprised 467 youth (median age [25p, 75p]: 17 [15, 20] years, 62% female). The mean MODY probability was 5.9% and 61.9% in Cohort 1 and Cohort 2, respectively. The mean probability for both cohorts combined was 18.8% suggesting an expected 382 individuals with MODY, which is much higher than previous estimations (1-5%; i.e. 20-102 individuals in this cohort). A total of 18 individuals tested positive for MODY among the limited number of individuals tested based on clinical suspicion and genetic testing availability (n=44 out of 2033 tested, [2.2% of overall cohort]).

Conclusions: The MODY risk calculator likely overestimates the probability of MODY in Hispanic youth, largely driven by an overestimation in those not early-insulin treated (predominantly young-onset type 2 diabetes). The calculator needs updating to improve its applicability in this population. In addition, further research to help better identify MODY in Hispanic youth.