The University of Chicago Medicine - Comer Children's Hospital

Department of Pediatrics 2017 Annual Report

Genomics & Organ Physiology Endocrinology

Siri Greeley, MD, PhD, with patient Frances and mom Sarah Jackson

All kids with diabetes deserve the right diagnosis

Rochelle Naylor, MD, with Lisa Letourneau, MPH, RD, LDN

Kids with monogenic diabetes—about 2 percent of all diabetes patients—are often misdiagnosed with type 1 or type 2 diabetes and, consequently, receive inappropriate treatment. One common form of maturity-onset diabetes of the young (MODY) is the GCK phenotype, characterized by mildly elevated glucose that doesn’t require treatment. When it is misdiagnosed and treated with glucose-lowering agents, treatment can lead to hypoglycemia. The other major form, HNF1A-MODY, responds to sulfonylureas, an oral pill, with better control than seen with insulin injections, according to Rochelle Naylor, MD, whose research focuses on MODY.

One of Naylor’s goals is to get people with MODY correctly diagnosed with genetic testing. The other is to create a clinical decision tool to help diagnose and treat MODY in the multi-ethnic US population, including African Americans, Latinos, and other minorities who have been underrepresented in studies of MODY. “Most of the data on MODY are from Caucasian patients, who may differ in important ways from racial and ethnic minorities,” she says. “For example, Caucasians have lower ranges of hemoglobin A1c than African Americans, which is relevant in diagnosing GCK-MODY. If we extrapolate our current MODY information to a multi-ethnic group of patients, we may miss the diagnosis or give inappropriate treatment. And the burden of diabetes is already much higher in African Americans, Latinos, and Asian patients.”

For any new technological advancement in diabetes, such as genetic testing, we have to be mindful that we are including all groups of patients.

~ Rochelle Naylor, MD

Naylor helps patients enrolled in the Monogenic Diabetes Registry at the University of Chicago Kovler Diabetes Center, the largest in the country, receive genetic testing. With the assistance of UChicago’s Center for Research Informatics, she is mining health records and offering no-cost genetic testing to racial and ethnic minority patients who might have MODY. Once patients found to have MODY are switched to appropriate therapy, Naylor will follow their response to treatment, and collect serum and urine to study biomarkers that may be predictive of MODY. The MODY predictive model she creates will be validated in patients of different races and ethnicities throughout the United States.

“For any new technological advancement in diabetes, such as genetic testing, we have to be mindful that we are including all groups of patients so that we are improving health care for everyone, not widening already existing disparities,” says Naylor. 

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