Congratulations to the Yorkshire and Humber NHS Genomic Medicine Centre on recruiting its 1,000th participant just 16 months after becoming operational.
We are proud to be supporting the Centre, which is helping to transform future care for rare disease and cancer patients through the sequencing of a whole genome – or the full blueprint of a person’s DNA.
The Centre is one of 13 Centres set up by NHS England to help realise its ambition of sequencing 100,000 genomes by the end of 2018. It is led by Sheffield Teaching Hospitals NHS Foundation Trust in collaboration with Sheffield Children’s NHS Foundation Trust and Leeds Teaching Hospitals NHS Trust and the 22 NHS health trusts in the region, and is supported by both ourselves and the NIHR Clinical Research Network Yorkshire and Humber.
Earlier this year, the GMC team was chosen as the winner of one of our Innovation, Improvement and Impact Awards for the best example of adoption and diffusion.
Up until recently, determining the sequence of a genome – which contains three billion pairs of letters and holds the instructions of the four chemical building blocks that make up the DNA molecule – was a slow and costly process, taking an average of 13 years and costing £2 billion. Thanks to the invention of large-scale automatic sequencing machines, this process can now be undertaken in two days at a cost of £1,000.
For Holly Wood, whose son Antony, 8, became the 1,000th participant in the Yorkshire and Humber, the pioneering project could “change his future” by helping them to find out more about his condition.
For years Holly and her husband, from Middlecroft, Chesterfield, were told that Antony, who was born with global development delay, suffered with “challenging” behaviour and that it was a phase he’d grow out of.
“We always knew something was wrong. When he was born, he was shaking and constantly sick. He used to scream and I mean scream, not just cry like a baby,” said Holly, who now cares for him full time. “He suffers with night terrors, stares at wheels and he takes things literally. Everything has to be how it is. He’s got 200 little cars and he knows all of them inside out.”
Three years ago, the family were told he suffers with autism, but although the findings were a “relief” there’s still more the family want to know.
“Any results could make a big difference to his future, and even if there’s some result, no matter how big or small, it would be great news for us,” added Holly.
“We didn’t understand anything about gene codes, but the staff explained all the positives to us. Being the 1,000th participant opens your eyes up to just how many people are in the same situation as you, even though the circumstances might be slightly different. It’s fantastic what they can do and if they can do this now, imagine what they can do in the future.”
The national ‘100,000 Genomes Project’ is the first and only project of its kind in the world.
Dr Gill Wilson, Programme Manager for the Yorkshire and Humber NHS Genomic Medicine Centre, said: “We are delighted to have recruited our 1,000th rare disease participant. Our aim is to make genomic information an integral part of patient care and, by comparing the genomes from lots of people, we will gain a better understanding of diseases, how they develop and which treatments are likely to be effective, helping to transform practice and care.
“Every step of the project – from patient identification, recruitment, consent, sample collection and processing, data capture and submission through to the validation of whole genome sequencing findings, feedback of information to individuals and their subsequent treatment and management – requires the consistency and academic rigour of a huge multi-site scientific research programme, so reaching this milestone is fantastic progress.”
In Yorkshire and Humber, the team is recruiting participants with rare diseases and certain types of cancer, including breast, colorectal, lung, prostate and ovarian, so that their DNA samples and cancer tumour samples can be sequenced as part of the national initiative.