Based at the Royal Hospital for Sick Children in Glasgow, this cutting-edge genetic diagnostic service was launched in 2005 and receives DNA for children with epilepsy from all over the country. The service is unique, being the only one in the world that does not operate commercially. Whilst MMT owns and updates the DNA sequencer machine and funds the Muir Maxwell Trust Epilepsy Fellow, the service is now fully supported by the NHS and the Scottish Government.
As at 10 October 2012 the number of children tested and on whom reports have been issued is 2,770; the number of genetic mutations identified is 530; additionally 700 family members of individuals with mutations were tested, enabling genetic counselling if appropriate.
Results are guaranteed within 40 days. Historically DNA was sent to Australia and results took up to 2 years. The commercial cost of these tests, had they been done in Australia (without medical opinion and advice), would have been £4.3 million, each test costing £2500.
The figure of a 19% mutation pick up is amazingly high for a genetic test and is the result of the close working relationship between the Consultant, Dr Sameer Zuberi who is an epilepsy specialist and the laboratory scientists, headed up by Rachel Birch who won Young Healthcare Scientist of the Year 2008 for this project.
The service currently extends to 4 recently diagnosed genetic epilepsies. In total there are some 34 different types of epilepsy and 40 different types of seizure and therefore a successful diagnosis, which is half the battle with epilepsy, enables an effective treatment to be prescribed which in turn will hopefully result in better control of the condition.
The exciting challenge now for the Yorkhill team is to be able to provide a diagnosis for the remaining children who have other causes for their epilepsy and whose DNA they hold.
Feedback from families participating in genetic testing for epilepsy
"Finally got diagnosis which resulted in change of medication and better seizure control"
"Although frightening to find out, the diagnosis has enabled me to get in contact with other families and to research the syndrome as much as possible. Genetic testing has stopped years of frustration not having an accurate diagnosis"
"It has helped everyone involved with him to understand him better, from school to grandparents"
"A definitive diagnosis was hard to swallow, but helpful in moving forward"
"We were very relieved when the results came back. It was like a weight had been lifted after 12 years"
"Peace of mind"
"After not knowing for 12 years, what was causing the seizures and regression I am so, so pleased to have an answer"
"We now have a diagnosis and have set small goals for the future"
"It finally (after 14 years) gave a diagnosis - helpful in form filling!"
"We have been able to put to bed our suspicions of why he developed epilepsy at 14 weeks"
"Due to the diagnosis I have been offered a genetic test at 11 weeks of any future pregnancy"
"Confirmed that management of condition is paramount, scans, tests, surgery routes no longer necessary"
"Very efficiently done, good feedback, changed my state of worry as to why for so many reasons"
"It gave a reason for his epilepsy as before we kept blaming ourselves. More importantly it gives some indication to professionals what drugs to try"
"The genetic testing gives us a diagnosis. My daughter is now 19 years old, so for 10 years we did not know the cause of her epilepsy, now we know it eases the mind"
"Positive diagnosis of condition helps when dealing with professionals. This would have made our journey with our daughter much easier had it been available when she was an infant"