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 with a world-first national genetic testing service launching today.
Announcing the groundbreaking new service at the first-ever NHS genomics conference in England, NHS chief executive Amanda Pritchard hailed it as the start of a new era of genomic medicine.
The new service, based in Devon, 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 childs 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.
The trail-blazing service based in Exeter, launched as part of the NHS Genomics Strategy at the inaugural Genomics Healthcare Summit in London, is another example of the NHS leading the world in harnessing the potential of genomic medicine to transform patient care.
Amanda Pritchard, NHS chief executive, said: This global first is an incredible moment for the NHS and will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies saving countless lives in the years to come.
I have seen how these simple blood tests can change the lives of babies and their families and being able to expand this further, is wonderful for children and their families.
When a child comes to intensive care timing is everything, so finding the right diagnosis and treatment as quickly as possible is absolutely vital, and I am delighted that the pioneering work of the NHS Genomic Medicine Service is transforming the way we diagnose and treat patients in England.
The NHS is recognised worldwide as a world leader in genomics, and this new service proves just that it also builds on our Long Term Plan commitment to deliver the most medically advanced services possible for all our patients boosting the life chances of thousands across the country.
Seven-month-old Reuben, from Cheltenham, Gloucester, was saved by the service while it was being trialled in March ahead of it being offered nationally.
Five-day-old Reuben had been fighting for his life at Bristol Royal Hospital for Children after being admitted with sickness and lethargy. Here doctors battled to filter potentially lethal levels of ammonia which had been detected in his blood.
Dad Atsushi, 39, said: When the doctor came out and told us that they were doing everything they could keep him alive, what we were facing really dawned on us.
We saw him connected to 20, 30 tubes and it was really tough to see.
Doctors suspected urea cycle disorder, but tests were inconclusive. But thanks to the trial of the rapid whole genome sequencing service, his blood could be tested rather than an invasive and potentially dangerous liver biopsy.
Genetic changes in the CPS1 gene were found, meaning his body could not break down nitrogen which in turn caused toxic levels of ammonia in the blood.
The correct medication was quickly given to Reuben without which he could have died. After two and half months in hospital, he was discharged and he is now doing well and waiting to have a liver transplant that will cure his condition.
Mum Eleanor, 38, said: All the care Reuben received would not have happened as quickly and his early diagnosis meant we knew what to expect.
Were so grateful for everything the NHS has done to enable this to happen and the incredible genomic testing we have had.
Atsushi added: Were grateful that despite the difficult times, we never felt alone and we knew we had the NHS teams with us at every step and now we look to the future with hope.
One in 17 people in England will develop a rare disease during their lifetime and more than 80% of these are genetic in origin.
About three-quarters of rare genetic disorders will present during childhood and are responsible for almost a third of neonatal intensive care deaths.
In 2021, the NHS became the first national healthcare system in the world to begin offering whole genome sequencing routinely for children, and some adults, with certain cancers.
This has led to the launch today of the National Rapid Whole Genome Sequencing Service, based in the South West NHS Genomic Laboratory Hub at Royal Devon University Healthcare NHS Foundation Trust.
Dr Emma Baple, who runs the National Rapid Whole Genome Sequencing Service, 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.
The NHS chief executive is also expected to announce the launch of the NHS first Genomics Strategy a five-year plan to step up the use of genomic medicine within the NHS embedding the cutting-edge benefits it delivers to patients in all areas of the NHS from cancer to inherited and rare diseases.
The plan will help more people receive life-saving diagnoses and get the support and cutting-edge treatments needed to live with them.
Key commitments made in the plan include:
The establishment of a NHS GMS Ethics Advisory Board to consider the introduction of new technologies, return of results, data protection and genomic research.
The expansion of genomic testing into the NHS diagnostic infrastructure for genomic testing. For example, exploring the role that Community Diagnostics Centres could play alongside the NHS GMS across a number of areas, including the collection of samples from family members for inherited disease genomic testing.
Upskilling the NHS workforce to help embed the benefits of genomics across the NHS including the development of a Genomic Training Academy
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NHS England World-first national genetic testing service to deliver rapid life-saving checks for babies and kids - NHS England
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