HMN 2026: How Genetic testing allows fast diagnosis of rare pancreatic condition in 98% of babies

The DNA changes responsible for a rare genetic condition causing babies to be born without a pancreas can now be identified in almost all affected children through genetic testing. That’s according to a new study from the University of Exeter, published in The Lancet Diabetes & Endocrinology, which found that genetic testing can identify the cause of pancreatic agenesis in 98% of cases.

The study identified the DNA changes responsible for pancreatic agenesis in all but four of 129 study participants.

Pancreatic agenesis occurs when the pancreas fails to develop during pregnancy, causing neonatal diabetes and an inability of the pancreas to produce sufficient enzymes for digestion. Patients with pancreatic agenesis are typically diagnosed with diabetes in the first six months of life, with the condition itself diagnosed later through abdominal scans.

Professor Sarah Flanagan, Professor of Genomic Medicine at the University of Exeter, said, “Pancreatic agenesis is an extremely rare condition. Being able to recruit 129 participants with the disease was an outstanding achievement, showcasing the work that the team at the University of Exeter has done in the last 30 years in advancing understanding of this rare disease.”

Dr. Elisa De Franco, Associate Professor at the University of Exeter, and study lead, said, “This study really shows how far genetic understanding of this disease has come and highlights that DNA changes are responsible for pancreatic agenesis without any important contributions of the environment.

“It also reinforces the importance of DNA testing in children with the disease, as for most of them a cause will be found. Knowing the cause allows health care professionals to give families struggling with the disease a better understanding of its impacts, risks and help them find support.”

Due to improvements in genetic testing, parents whose babies are born without a pancreas can now get a genetic diagnosis within weeks of sending a sample for DNA testing rather than waiting years as they had before.

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