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 and Endocrinology, which found that genetic testing can identify the cause of pancreatic agenesis in 98 per cent of cases.
The study, funded by Wellcome and supported by the National Institute for Health and Care Research Exeter Biomedical Research Centre, 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 in 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 healthcare 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 who are born without a pancreas can now get a genetic diagnosis weeks of sending a sample for DNA testing rather than waiting years as they had before.
Tania's story
Tania was born in 2011 and diagnosed with pancreatic agenesis soon after. While her DNA was taken for testing the genetic understanding of the condition was limited at the time and Tania and her family had to wait over ten years before finding out that a DNA change in the gene ZNF808 was the cause of her condition.
Imran, Tania's dad, said: 'It's such a stressful time when parents first find out that something is wrong (with their baby). So much time and energy are put into learning how to manage conditions like diabetes, let alone rarer conditions such as pancreatic agenesis, that there is very little capacity to think about anything else. From personal experience, I know how much of a relief it was to understand why. It becomes an underlying source of stress that never really goes away because of the uncertainty. When I finally got the answer, it felt like a weight had been lifted and I could finally look ahead and explore other treatment options. […] It is amazing to hear how much progress has been made and that families can now receive answers so much sooner."
The article is now published in the Lancet Diabetes and Endocrinology as a research letter. Research letters published in the Correspondence section include research findings and are externally peer-reviewed. Unlike Articles containing original data, research letters are shorter and the research they contain is usually preliminary, exploratory, or reporting on early findings. The paper is titled ' Comprehensive genetic testing identifies causative variants in 98% of individuals with pancreatic agenesis: an international cohort study .'.
