Pursuing accurate diagnosis for minorities with MODY

doctor and patient talking
Accurately diagnosing racial and ethnic minority patients with MODY and entering them in the registry will enable researchers to understand if there are differences in biomarkers or the response to medications in different races.

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 developed the registry section on maturity-onset diabetes of the young (MODY) and co-manages the registry.

Between 72% and 75% of patients in the registry are non-Hispanic whites. “It might be that fewer minorities have monogenic diabetes compared to white, but we don’t know,” Naylor said. “We do know that MODY occurs in all races, and we don’t seem to have many minorities coming into the registry.”

Is monogenic diabetes truly more prevalent among white people? Or are doctors failing to diagnose it properly in minorities?

Naylor has embarked on a research project to find out.

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

She began with a cohort of 7,500 patients seen in the last three years who are under 50. (Older patients might be less able to change their treatment regimens if they were found to have MODY, but also had diabetes-related complications or other serious medical conditions.) She is whittling down the number by excluding patients who were obese at diagnosis and, therefore, likely to have type 2 diabetes.

She will then look for patients who were diagnosed at a young age and have evidence that their body produces insulin, features that could be consistent with MODY.

She expects to wind up with between 300 and 500 patients who would qualify to have testing for MODY. Of those, she estimates that 10% to 15% will be diagnosed with MODY. Some people who do not have a positive genetic test may be eligible for other research studies of atypical diabetes.

The study has been supported by a grant from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) that ended on May 31. The project will continue with support from smaller grants, and Naylor is actively seeking additional funds to ensure that everyone who is eligible for genetic testing can receive it.

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.”

Rochelle Naylor, MD

Rochelle Naylor, MD

Rochelle Naylor, MD, specializes in endocrinology.

Read more about Dr. Naylor

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. 

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