Risky Genes

As genetic risk scores get integrated into clinical care, experts expect patients to gain earlier access to therapies and enjoy better outcomes

- By Rachel Nuwer

IN 2024 STEPHEN RICH and his colleagues published a study in which they assessed the genetic risk of developing type 1 diabetes for more than 3,800 children from across Virginia. Almost immediately Rich, a genetic epidemiologist at the University of Virginia, was inundated by emails and calls from parents who had read the article and wanted their kids tested, too. Unfortunately the study was over, so Rich couldn't help them. But the experience exemplified the growing interest in genetic risk tests for the disease, he says.

There is currently no cure for type 1 diabetes, a chronic condition in which the body's immune system attacks and kills insulin-producing beta cells in the pancreas. Knowing someone's genetic predisposition to type 1 diabetes, however, can help doctors identify whom to flag for followup tests. It can also lead to earlier adoption of therapeutics to manage the disease or delay its onset. "There's tremendous power in terms of understanding the genetics of type 1 diabetes," says Todd Brusko, director of the Diabetes Institute at the University of Florida. As more therapies become available, he adds, the eventual hope is to use genetic profiling to determine who will respond best to one drug versus another.

Recent advances in genetic screening tools have not only revealed an intricate interaction between a person's genes and their immune system but also made it possible to imagine a future in which every newborn is screened for type 1 diabetes risk. Some healthcare authorities are already beginning to consider universal screening. “It’s very exciting times,” says Maria Jose Redondo, a physician and professor of pediatric diabetes and endocrinology at the Baylor College of Medicine. “A lot of progress has been made, and now we're at the point of applying it.”