The Neuromuscular team at the Orthopaedic Hospital have held their last family clinic as part of the 100,000 Genomes Project – a pioneering government-funded programme that is improving medical knowledge and treatment of some rare diseases and cancers.

The 100,000 Genomes Project is led regionally by the West Midlands Genomic Medicine Centre. The project sees samples of DNA obtained from consenting patients, which are then sequenced to look for potential genetic causes for rare diseases such as muscular dystrophy.

The muscle team at the hospital decided to start running family clinics, which involved family members giving samples so hereditary factors can be taken into account and patients can potentially get answers.

Scientists and medical professionals can then use this information to further their understanding of rare conditions. Some patients may receive a genetic diagnosis for their rare disease, and families will also know the likelihood of conditions being passed onto other family members.

Prof Tracey Willis, paediatric neuromuscular consultant, said: “Recruitment for the 100,000 Genomes Project has now come to an end and hopefully genomics will soon move into routine NHS care.

“We’ve held 12 family clinics overall and our first clinic took place back in February 2017. Within that time frame, we had 280 individuals from 88 families and singletons enrol onto the project.

“I’m absolutely delighted with our performance in the 100,000 Genomes Project, and really pleased the whole team has fully integrated it into our care for all patients we see that don’t have a diagnosis, with the aim of providing one.”

Claire Bassie, Advanced Nurse Practitioner in Neuromuscular Care, said: “The whole project has been such a team effort and we couldn’t have done it without the support and help of all the staff in children’s outpatients.

“We’d also like to say a huge thank you to all the families that have consented to be part of the project – our figures are fantastic but that wouldn’t have been possible without them.”

Alongside the Biobank of the Study of Health and Disease and the Sarcoma team, the Orthopaedic won the Meridian Award and placed highly commended in the Advanced Diagnostics, Genomics and Precision Medicine Award for their involvement with the 100,000 Genomes Project at the Meridian Celebration of Innovation Awards, run by the West Midlands Academic Health Science Network.

Dr Christopher Clowes, regional Genomics ambassador, has praised the team for their performance.

He said: “I’d like to congratulate everyone who has been involved. The numbers of patients they’ve enrolled at the Orthopaedic are very impressive and that will hopefully translate into attaining diagnoses for many of the patients who have taken part in the project here.”