Abstract

While diabetes is one of the most common chronic medical conditions, monogenic forms of diabetes represent a rare subtype, and face barriers to timely diagnosis similar to other rare diseases (RD), which are exacerbated by low health literacy (HL) and health care access barriers. The Monogenic Diabetes Registry (MDR) follows more than 1,200 participants with molecular diagnoses of monogenic diabetes who can offer insight into diagnostic barriers and facilitators. Aim: To assess area deprivation index (ADI- a measure of neighborhood disadvantage in the US) as a proxy of HL and health care provider type (specialist versus generalist) as a proxy of health care access in a subset of MDR participants with maturity-onset diabetes of the young (MODY). Methods: Cross-sectional analysis of REDCap data for 79 participants. ADI was constructed for each participant and descriptive statistics were analyzed with RStudio. Kruskal-Wallis was used for comparisons. Results: The median ADI of MDR participants was 26 (less than expected value of 50; p<0.001). Only 20% were from neighborhoods with >50th %ile deprivation. Sixty-two percent were under specialty care for diabetes. The median ADI for those under specialist care was lower than for those under generalist care (23 versus 36), but did not reach statistical significance. There was no difference in median ADI between participants receiving clinical versus research genetic testing or between those referred by providers versus self-referral. Discussion: ADI inversely correlates with HL and SES. MDR participants had ADI percentiles below the national median and a majority were under the care of diabetes specialists compared to ~15% of the general US population living with diabetes. These findings suggest inequity in who finds and enrolls in the Registry, and mimics the broader RD literature. Efforts are needed to better reach populations disproportionately affected by health disparities to ensure equity in monogenic diabetes diagnosis and management. Disclosure R.G.Son: None. R.N.Naylor: None. S.Uiversity of chicago monogenic diabetes registry : n/a. Funding National Institutes of Health (R01DK104942, P30DK020595, K23DK114564, UL1TR000430)

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