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

Thanks to a new genetic testing service being launched by the National Health Service, very sick babies and children will be diagnosed and treated quicker.

Within two days, doctors will be able to find out what illnesses more than 1,000 newborns and infants in England have from the rapid analysis of blood tests.

Until now, when doctors suspected a genetic disorder, they would have to do tests in a sequential order to rule out other possibilities, delaying treatment.

The service could save the lives of thousands of seriously ill children over time, according to the bosses of the National Health Service.

The clinical scientists, genetic technologists and bioinformaticians will be able to process saliva and other tissue samples in less time. They will give their findings to medical teams.

They will use whole genome sequencing to identify changes in the child's genes and to diagnose diseases such as cancer.

The new service will be the first in the world to cover an entire country, and it will be available in parts of other countries as well. The new service in England is more extensive than the one in Wales.

"This global first will be revolutionary in helping us to quickly diagnose the illnesses of thousands of seriously ill children and babies, saving countless lives in the years to come," said the chief executive of the National Health Service.

The Genomic Medicine Service is based in the same area as the new national rapid whole genome Sequencing service. A successful trial took place in some areas of England.

The new service will change the way rare genetic conditions are diagnosed. A new national test is being offered with results being delivered within seven days.

The only test in the National Health Service that looks at all 22,000 genes is this one. The genes are the cause of most of the changes that lead to disease.

Depending on the complexity of the child's condition, the test results should be out in between two and seven days.

With prompt and accurate diagnosis conditions could be cured or better managed with the right clinical care, which could be life-saving for so many seriously unwell babies and children.