Should all newborns undergo genetic screening for type 1 diabetes risk?

The time to begin screening all newborns for genetic risk is now.

This article was first published by Jessica Dunne.

The idea behind screening is to achieve three goals. The immediate goal is reduction of diabetic ketoacidosis. We know that DKA is a very serious issue with a type 1 diabetes diagnosis. Some studies suggest that up to 60% of children with type 1 diabetes present when they are in DKA. This has short-term and long-term effects on glucose control, which has effects on outcomes and complications. There are a lot of reasons why one would want to avoid a diagnosis in DKA. We know from studies like TEDDY, TrialNet and others that, through screening and monitoring, you can reduce the DKA rates dramatically.

The midterm goal would be to find more eligible people to participate in clinical trials at a time when more companies are developing therapeutics aiming to slow progression and one day even prevent type 1 diabetes.

Then there is the long-term goal, which would be to match people with a therapy. This has relevance now with teplizumab (Provention Bio), an immunotherapy drug, which has shown in a clinical trial that it can slow the development of type 1 diabetes and recently received an FDA breakthrough designation. This drug could potentially be on the market in 2 years.

With genetic screening, you eliminate all of the children who are at low risk for developing type 1 diabetes, even though some of those children will still go on to develop the disease. So you “miss” some of those children. No screening model is perfect. Some would advocate for a hybrid genetic screening model, where newborns are screened at birth, and then there is a second universal screening around age 4 years. There are challenges with this, in terms of cost and access.

If the goals are to treat as many people as possible and avoid the long-term complications of type 1 diabetes, you want to be able to access as many people as possible, both for the prevention of DKA and ultimately for therapies. Some say that screening is not viable now because you cannot do anything to treat the disease. To those people, one could respond that we can reduce incidence of DKA in children. The stronger argument is now we can actually modify disease course, which we have never shown before. There will be challenges with payors and clinicians and issues of getting screenings on to a schedule, but certainly the time is now.

We have a real opportunity here to change the course of a disease that has no cure. Research has demonstrated that we can delay the onset of disease, which we know will have a significant impact on long-term health. We are on the path to long-term prevention and, ultimately, to a cure. We must approach it early with genetic screening.

Jessica Dunne, PhD, is senior director of research at JDRF. 

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