Pursuing equity in diagnosis of MODY and other atypical forms of diabetes

doctor and patient talking
Accurately diagnosing racial and ethnic minoritized patients with MODY and entering them in the registry will ensure that new knowledge of the best management for different forms of MODY will benefit all individuals living with these forms of diabetes.

The Monogenic Diabetes Registry is a signal achievement of the Kovler Diabetes Center. Our physician-scientists created this registry of patients with monogenic diabetes and their family members, and maintain it as a leading resource for research to further understanding of this less common, genetic form of diabetes.

But as the registry grew, a worrisome phenomenon became apparent.

“We noticed that we were not capturing a lot of racial or ethnic minorities,” said Rochelle Naylor, MD, who co-manages the registry and focuses on a class of monogenic diabetes known as maturity-onset diabetes of the young (MODY).

Over 80% of patients in the registry identify as Non-Hispanic White.1 “We do not know the exact percentage of monogenic diabetes by race and ethnicity,” Naylor said. “But we do know that MODY occurs in all races, and we don’t seem to have many individuals that identify with minoritized racial and ethnic groups coming into the registry.”

Naylor has embarked on a research project to address this.

Working with the Center for Research Informatics, Naylor is utilizing UChicago Medicine’s electronic health record to find minoritized patients diagnosed with type 1 or type 2 diabetes who may actually have MODY.

She began with a cohort of 7,500 patients and is using clinical data to identify people who have features of MODY, such as diagnosis of “type 2 diabetes” at a young age and/or associated with a normal weight, or a diagnosis of “type 1 diabetes” but with evidence of ongoing function of the insulin-producing cells. From this effort, about 1% of the original cohort may in fact have MODY. Efforts are underway to enroll such people in studies for genetic testing to ensure they have the right diagnosis and the right treatment.

Accurately diagnosing racial and ethnic minority patients with MODY and entering them in the registry will not only make the registry accurately reflect the true demographics of MODY, but will enable researchers to understand if there are differences in biomarkers or the response to medications in different races.

The take-home point Naylor has for providers: “If the patient in front of you has what looks like MODY, it may be MODY, and they warrant genetic testing, regardless of race or ethnicity.”

Notably, Dr. Naylor notes a similar problem with other atypical forms of diabetes. As a co-investigator of the Rare and Atypical Diabetes Network (RADIANT)2 study looking to understand and have better treatment approaches to atypical diabetes, she contributed to a study demonstrating that racial and ethnic minoritized individuals are also underrepresented in this study.3 There are ongoing efforts to address this, including electronic medical record approaches. “Ultimately, both studies show that we need to be mindful that when we are advancing medical knowledge to benefit those living with diabetes we have to have equity in representation among research participants so that everybody can benefit from advances in diabetes care”.


  1. Kovler Diabetes Center

    UChicago Medicine offers a patient-centered, science-based approach for managing insulin-dependent Type 1 diabetes, complex Type 2 diabetes, gestational, pre-diabetes and monogenic diabetes. 

    Learn more about our expertise