Using Genetic Markers For Early Type 1 Diabetes Detection

Doctor holding blood sugar meter

Doctor measuring blood sugar for hyperglycemia.


It’s well-established by now that there is no cure for type 1 diabetes – only insulin therapy and monitoring through blood sugar tests and continuous monitoring. There has been no reliable way to predict the onset of diabetes, as early symptoms may be missed and escalate quickly into diabetic ketoacidosis (DKA) or other complications.

In fact, as many as 40 percent of children who are later diagnosed with type 1 diabetes wind up hospitalized for DKA, Stephen Rich, director of the Center for Public Health Genomics at the University of Virginia, told NPR.

Unfortunately for young people with type 1 diabetes, we still don’t have a straightforward screening or genetic test for the disease, which has both environmental and complex hereditary components.

Rich’s team at UVA is working to change that.

A multi-stage screening process for type 1 diabetes

The study design is fairly simple, First, children are given a simple saliva-based genetic test to narrow down a population subgroup that has the greatest chance of developing type 1 diabetes, using an array of previously identified genetic markers that point toward that risk. While there’s no single genetic marker for the chronic disease, there are several dozen variations and locations in the genome that can contribute toward the progression of diabetes.

The first step is establishing a higher-risk population using $7 screenings, Rich told NPR, which indicate that the tested child has about a tenfold risk of developing diabetes – an increase from 0.4% incidence to 4% incidence.

They are then periodically given a blood test for specific antibodies that signal diabetes may have started to develop as the immune system attacks the pancreas and its islet cells. That screening costs about $75, a not-insignificant cost for a test that needs to be repeated fairly often.

Thus far, the study at UVA has screened about 2,000 children, according to the report – of that cohort, 60 tested positive for a higher risk of developing type 1 diabetes.

Analyzing the benefits – and costs – of testing

Because the antibody tests must be repeated, the costs can add up, so its important to study the viability of the screening process from a cost-benefit perspective. The NPR report identified a 2015 study conducted by the University of Florida which concluded that the screening process wasn’t economically viable “unless HLA testing and autoantibody testing could be performed for less than $1 and $0.03, respectively.”

That research cited parental lost income, medical expenses, morbidity, and mortality as potential costs of the screening process.

However, further research is still ongoing to establish the viability of regular screening, including efforts by the JDRF, said Rich.

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