A patient in Birmingham has become one of the first in the country to take part in a national genetic testing project, with the results guiding his treatment.
Mohammed Usman, 9 months old, is a patient at Birmingham Children’s Hospital. Doctors suspected a potential genetic cause for his symptoms, and recommended genetic testing for monogenic inflammatory bowel disease (IBD).
Usman’s father, said: “We didn’t know this kind of test was available, but once we found out about it, were keen to get it done.
“The test results have answered a lot of questions for us and the medical team. We know as parents what’s happening, and the doctors have been really supportive, telling us what the tests look for and what the results mean.”
Monogenic IBD is a rare condition caused by changes to a specific gene. Monogenic IBD doesn’t always have the same symptoms, and the best treatment can often be difficult to determine.
The results of genetic tests are crucial in guiding which treatment options are likely to have the best impact for a patient.
Dr Wolfram Haller, Consultant Paediatrician at Birmingham Children’s Hospital, said: “I’m pleased the IBD project is helping families like the Usman’s.
“The results have been vital for Usman’s treatment, and have provided answers for Usman, his family, and clinical colleagues involved in his care.”
As part of the monogenic IBD project, multidisciplinary team networks are being established for clinical staff to discuss test results and treatment options for patients who have been tested for the condition.
Educational resources are also being created, with a one-day seminar taking place in April 2023.
Find out more about the IBD project: Monogenic Inflammatory Bowel Disease