A family in Surrey are one of the first in the country to receive results from a new genomic testing project.
Leo Swarbrick, who is 17 months old, was tested for monogenic Inflammatory Bowel Disease (IBD), with the results coming back negative.
The project is being delivered by the Central and South Genomic Medicine Service Alliance, which works across the West Midlands, Thames Valley and Wessex.
Leo’s mum, Sioned, said: “Doctors, including Dr. Nadeem Afzal, treating Leo suspected he may have a rare condition so suggested genetic testing, alongside the other tests and treatment he was having.
“From our perspective, the whole process was very easy. Leo and I had blood taken at the hospital, and later Dr Ashton called us to explain the results.
“I think genetic testing can only be a good thing if it helps to find answers for families like ours.”
IBD is a chronic condition that leads to soreness in the gut. People with IBD often have slightly different symptoms, making it difficult to know the best treatment options.
Monogenic forms of IBD are a group of rare conditions that are caused by variations in individual genes.
For people with monogenic IBD, many standard treatments are unlikely to work, making genetic diagnoses vital in determining which treatments are more likely to have a positive impact.
Dr James Ashton, Senior Clinical Lecturer in Paediatric Gastroenterology at Southampton Children’s Hospital and the University of Southampton, said: “The IBD project is now helping families like the Swarbrick’s.
“Through this project, we’re setting up networks for NHS staff to discuss personalised treatment options for patients, making sure they receive the best possible treatments and care.”
The project is also supporting staff with educational resources, including a one-day seminar and material available on the Genomics Education website.
Find out more about the IBD project: Monogenic Inflammatory Bowel Disease