New NHS genetic testing service ‘could save thousands of children’ in England

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Very sick babies and children will be diagnosed and start treatment more quickly thanks to a “revolutionary” new genetic testing service being launched by the NHS.

Doctors will gain vital insights within as little as two days into what illnesses more than 1,000 newborns and infants a year in England have from the rapid analysis of blood tests.

Until now, when doctors suspected a genetic disorder, such tests have sometimes taken weeks as they had to be done in a sequential order to rule out other possible diagnoses, delaying treatment.

NHS England bosses say the service could save the lives of thousands of seriously ill children over time and will usher in “a new era of genomic medicine”.

The clinical scientists, genetic technologists and bioinformaticians will carry out much faster processing of DNA samples, including saliva and other tissue samples as well as blood. They will share their findings with medical teams and patients’ families.

They will undertake whole genome sequencing in a quest to identify changes in the child’s DNA and so diagnose conditions such as cancer and rare genetic disorders.

While such testing is available in parts of other countries such as the US and Australia, NHS England said that its new service will be the first in the world to cover an entire country. Wales also has a similar service but it is more limited in its scope than the new service in England.

“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,” said Amanda Pritchard, NHS England’s chief executive.

The new national rapid whole genome sequencing service will be based in Exeter as part of the NHS’s existing Genomic Medicine Service which is based there. It follows a successful trial in some parts of England.

Dr Emma Baple, who is running the new service, said it “will transform how rare genetic conditions are diagnosed. It is a new national test being offered with results delivered inside seven days as compared to a much longer turnaround time.

“It is the only test in the NHS that looks at all 22,000 genes in the human genome and all the parts in between the genes. Eighty-five per cent of all changes that lead to disease are in the genes themselves, whilst the rest is caused by the bits of DNA in between.”

Test results should be available in anything between two and seven days, depending on the complexity of the child’s condition, though that should get faster as technology improves, Baple added.

“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.”