NHS Chief Executive Amanda Pritchard announced the NHS will be able to diagnose and save the lives of thousands of severely ill children and babies with a world-first national genetic testing service.
The service is based in Exeter, England, and launched as part of the NHS Genomics Strategy. The service builds on the NHS’s Long-Term Plan to deliver the most medically advanced services to all patients across the country.
In 2021, the NHS became the first national healthcare system to begin offering whole genome sequencing routinely for children. Such a service will transform how rare genetic conditions are diagnosed. The service can provide prompt and accurate diagnosis, and with the right clinical care, conditions have better chances of being cured or treated.
Whole genome sequencing looks for changes in the genes in the DNA of critically ill children. A diagnosis can be rapidly determined, so that thousands more patients can receive the treatment they need to cure their condition completely. The service can also support other patients with more complex illnesses, providing them with the best possible chance of reducing complications earlier on.
The new service will be able to rapidly process DNA samples of babies and children who are severely ill in hospital or who are born with a rare disease. Babies and children will have a blood test and once processed, the blood test results will be given to medical teams across the country to begin the treatment plans within days.
Amanda Pritchard, NHS chief executive, explained how these “simple blood tests can change the lives of babies 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”.
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