Children who are seriously ill and cannot be diagnosed by their doctors will have access to fast-tracked genetic tests through a new scheme in England.
Every year, around 1000 babies and children in intensive-care will receive the benefits of the “revolutionary”The NHS declared the scheme.
NHS England claimed that the national genetic testing service of the NHS is now available. “world first”Could “save the lives of thousands”Children who are severely ill.
When doctors suspected genetic illness for a child’s symptoms previously, the youngster may have needed a battery of tests with results sometimes taking weeks.
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
Amanda Pritchard, NHS England boss
Children will now only need to submit simple blood tests that will be sent off to a Devon lab for genetic testing.
The results will be available within seven days. Treatment can begin within one week.
Amanda Pritchard (NHS England boss) announced the new scheme on Wednesday. It was tested in March in the south-west.
It is currently being spread across the country.
During the trial, a newborn’s life was saved after his blood was sent off for rapid testing.
Reuben Tanaka, a seven-month-old boy from Cheltenham in Gloucester, was saved by this service during its trial in March (Handout/PA).
Reuben Tanaka, a five-day-old boy from Cheltenham (Gloucester), fell ill in March after vomiting and refusing feed.
The baby, now seven months, was admitted to Bristol Royal Hospital for Children’s intensive care unit, with potentially lethal levels of ammonia in his blood.
Although doctors suspected urea-cycle disorder, tests proved inconclusive.
Thanks to the trial of the rapid whole genome sequencing service, Reuben did not need an invasive and potentially dangerous liver biopsy – with blood tested instead.
Genetic changes in the CSP1 gene were found, meaning the youngster’s body could not break down nitrogen which, in turn, caused the toxic ammonia levels.
Reuben received the correct medication quickly, saving his life.
“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,”Atsushi, his father Atsushi, is 39 years old.
“We saw him connected to 20, 30 tubes and it was really tough to see.”
This new service has taken over five years to develop and is a significant step forward in our ability to provide the best possible care for these children. It is an honor to be able to help children across the country.
Dr Emma Baple National Rapid Whole Genome Sequencing Service
Reuben’s mother Eleanor, 38, added: “All the care Reuben received would not have happened as quickly and his early diagnosis meant we knew what to expect.
“We’re so grateful for everything the NHS has done to enable this to happen and the incredible genomic testing we have had.”
Reuben was released from hospital after spending two and a quarter months. He is now well and waiting for a liver donation, which will heal his condition.
Ms Pritchard stated that the new service marks the beginning of a new era. “new era in genomic medicine”.
“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,”She will be speaking to the Genomics Healthcare Summit delegates in London.
“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’s 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.”
Ms Pritchard will also announce a five year plan to improve genomic medicine in the NHS. This will include expanding existing genomic testing in NHS and a revamp of a ‘Genomic Training Academy’It will be used to teach current NHS staff about genomic medicine.
Dr Emma Baple is the National Rapid Whole Genome Sequencing Service’s director. “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.”