RJAH holds first genome clinic as part of a pioneering national project

The Robert Jones and Agnes Hunt Orthopaedic Hospital ran its first families clinic this week as part of the 100,000 Genomes Project – a Government funded programme using genetics to help improve knowledge and treatment of rare diseases.

The Oswestry-based hospital signed up to join the project at the end of last year, which is led regionally by the West Midlands Genomic Medicine Centre. Samples of DNA are taken from consenting patients which are then sequenced to look for genes related to diseases such as muscular dystrophy.

Scientists and medical professionals can then use this information to further their understanding of rare conditions. Some patients may get diagnoses where there previously wasn’t one as well as the potential for individually targeted therapies.

Paediatric Neuromuscular Consultant Dr Tracey Willis is the lead on the 100,000 Genomes Project for RJAH. She said: “I started working with the scheme about a year ago when we started referring patients that had gone through a lot of tests and not got a diagnosis.

“This project seemed like the next logical step. It’s quite exciting because it has a specific section for neuromuscular conditions which we treat here. That means potentially we can get an answer for those patients, or at least rule more things out.

“Genomics is probably going to be the way forward in exploring a number of diseases. In years to come a patient will come here for treatment and give DNA samples as a normal procedure. But we aren’t there yet.”

The Regional Ambassador for the Project, Dr Christopher Clowes, worked with RJAH at their first clinic this week. He said: “It’s ideal for patients. Before, to access genomic services patients would have to travel quite a long way to places like Birmingham, which is not easy if you’re ill.

“Nationally and locally the project is going very well. In the West Midlands there are 14 Trusts now contributing to this project and around 48 nationally.

“This equates to tens of thousands of patient samples so far. We’ve no shortage of enthusiasm for this and I think that’s why we’ve had so many patients and Trusts get involved.”

The Evans family from Penycae, near Wrexham, were the first through the door of the clinic at RJAH. Chris and Trisha’s daughter Sian has Muscular Dystrophy. The whole family gave samples so that hereditary factors can be taken into account.

Mum Trisha said: “It’s one of the rarer diseases so we don’t have a definite diagnosis yet. We are hoping that taking part in this project might pick up on what it is exactly she’s suffering from.

“Hopefully if we get a diagnosis there might be a treatment. There might not be, but at least we can stay positive. Thank goodness these projects are here, otherwise we would be stuck in a rut. We’re lucky that RJAH is taking part and lucky that we live so near.”