The NHS will be able to diagnose and potentially save the lives of thousands of severely ill children and babies, within days rather than weeks, thanks to a partnership between healthcare professionals and academics in Exeter.
A world-first national genetic testing service was developed by the Royal Devon University Healthcare NHS Foundation Trust in collaboration with world-leading genomics research groups at the University of Exeter, alongside clinicians and academics worldwide.
The service launches today and will rapidly process DNA samples of babies and children who end up seriously ill in hospital or who are born with a rare disease, such as cancer.
It will benefit more than 1,000 little ones in intensive care every year who until now had to undergo extensive levels of tests, with results often taking weeks to come back.
Now, they will be able to have simple blood tests and once they are processed, the service will give medical teams from across the country results within days – meaning they can kickstart lifesaving treatment plans for more than 6,000 genetic diseases.
Whole genome sequencing works by looking for changes in genes in the seriously ill child’s DNA. This can help rapidly determine a diagnosis, opening up the possibility for thousands more patients to have their conditions cured completely.
Other patients with more complex illnesses will have the best possible chance of reducing difficult complications sooner, boosting their quality of life.
Suzanne Tracey, Chief Executive Officer at the Royal Devon, said: “Genomic medicine has a very important role in delivering personalised healthcare and treating disease, which is one of the reasons why the Royal Devon is so committed to embracing new technologies and translating research discoveries into novel diagnostic approaches, treatments and interventions.
“We are extremely proud of this world-leading service for acutely unwell babies and children. This innovative new test is an exemplar of how effective partnership working can transform patient care.”
Professor Emma Baple, Medical Director of the Royal Devon laboratory that runs the National Rapid Whole Genome Sequencing Service and Professor of Genomic Medicine at the University of Exeter said: “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed.
“We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering — and potentially life-saving — for so many seriously unwell babies and children.
“This new service, which has been over five years in the making, is a huge step-change in what we can do for these children and their families, and it is an absolute privilege for us to play a part in helping to give children up and down the country the best care possible.”