Neonatal diabetes mellitus is a rare form of diabetes, occurring in about 1 out of every 100,000 live births. It can be transient, eventually disappearing on its own, or permanent, potentially causing health complications throughout a child’s life. Until recently, most babies with permanent neonatal diabetes mellitus were misdiagnosed with type 1 diabetes – the form of diabetes that usually appears in childhood. However, it is estimated that nearly half of those diagnosed with diabetes under six months of age actually have a monogenic (genetic) form of the disease, most of these carrying a mutation in either of two genes: KCNJ11 or ABCC8.

Rather than taking frequent insulin injections every day, this subset of patients can benefit from oral sulfonylurea therapy – a type of medication that stimulates production of insulin through the potassium channel that is formed from the two genes that are mutated. A University of Chicago researcher has shown that routine genetic testing could lead to a better quality of life for these children and significantly lower the costs of their treatment.

Siri Atma Greeley, MD, PhD, and his co-authors performed a societal cost-utility analysis to generate estimates of the total medical costs and health outcomes projected over thirty years, when either correctly diagnosed with monogenic diabetes or incorrectly diagnosed with type 1 diabetes. In comparing a policy of routine genetic testing versus no genetic testing among children with permanent neonatal diabetes mellitus, they found that genetic testing could save $12,528 in total health care costs over 10 years and $30,437 over 30 years. Overall benefit was seen not only from health care costs, but also from quality of life effects, such as through the prevention of diabetes-associated disabling complications such as blindness.

“We project that testing in infancy will bring about quality-of-life benefits that enlarge over time,” said Greeley, a pediatric endocrinologist with the Kovler Diabetes Center at the University of Chicago. “Genetic testing in neonatal diabetes represents a rare medical advance that not only improves health, but also lowers costs.”

Greeley predicts this concept will be applied to other medical disorders in the future. “Personalized genetic medicine is already changing health care, especially diabetes care, which is becoming more sophisticated,” he said. “Rather than creating a ‘one-size-fits-all’ therapy for everyone, physicians and researchers are looking at how treatments and diagnostics can be tailored to the individual.”

The Kovler Diabetes Center already has taken an important step toward the future. The center maintains two registries of patients with genetic forms of diabetes – one for babies diagnosed with neonatal diabetes, and another for youth and adults diagnosed with MODY (maturity onset diabetes of the young), which often has an identifiable monogenic cause. Many of those patients have been switched to sulfonylurea drugs, depending on which gene mutations they carry.

Greeley’s study appeared in the journal Diabetes Care. Other authors of the study from the University of Chicago included Priya M. John, MPH; Rebecca B. Lipton, PhD; Louis H. Philipson, MD, PhD, Director of the Kovler Diabetes Center; Graeme I. Bell, PhD, Director of the Diabetes Research and Training Center (DRTC); and Elbert S. Huang, MD, MPH.