Genetic testing has numerous applications in many different fields of medicine, and it can help people made decisions about everything from cancer treatments to whether to have children. But even though the genetic risk factors for type 1 diabetes are well understood and easily identified with a simple blood test, it’s not currently a mainstream practice to routinely screen children for their diabetes risk.
That’s the case largely because until recently, nothing could be done to help prevent or delay type 1 diabetes in someone with an elevated risk profile. But earlier this year, an immunotherapy drug was shown to delay a diagnosis of type 1 diabetes in ultra-high-risk children by an average of about 2 years, so the mentality surrounding genetic testing and assessing other risk factors may soon change rapidly.
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But even without using any treatments to delay the onset of type 1 diabetes, one research team is using genetic screening for the condition as part of a strategy to help prevent early hospitalization in children who end up developing it, as described in an NPR article. Stephen S. Rich, director of the Center for Public Health Genomics at the University of Virginia, and colleagues developed a test for several genetic variants that, put together, account for about 90% of the known genetic risk for type 1 diabetes. With a cost of about $7 per test, it’s intended as a broad screening measure for all children.
Once children at high genetic risk for type 1 diabetes are identified, Rich’s strategy is to follow up with periodic tests for antibodies that indicate the actual disease process is under way. Antibody tests cost about $75 and need to be given repeatedly, so it makes sense to give these tests only to children whose higher risk for type 1 diabetes is already established. The ultimate goal is to identify type 1 diabetes before it leads to a medical emergency — such as diabetic ketoacidosis, which can cause coma or even death — that lands a child in the hospital.
According to the article, about 40% of children with type 1 diabetes aren’t diagnosed until after they develop diabetic ketoacidosis. But even if Rich’s genetic testing approach were widespread, some children would still fall through the cracks, since about half of all kids who develop type 1 diabetes don’t have a high genetic risk profile. And among those who do have a high genetic risk, only about 4% will actually develop type 1 diabetes.
The University of Virginia research team hopes to establish that even with these caveats, their genetic testing approach makes sense by saving both money and heartache for children and parents who would otherwise experience a frightening medical emergency. If the approach is shown to be worthwhile, it could ultimately become part of routine genetic screening for newborns in the United States.
A freelance health writer and editor based in Wisconsin, Phillips has a degree in government from Harvard University. He writes on a variety of topics, but is especially interested in the intersection of health and public policy.