Children die because the UK offers a “secondary” baby screening programme to identify rare diseases.


Children die because Britain has a “secondary” baby screening programme, warns a report.

Britain lags behind most other developed countries in identifying rare diseases by screening infants commonly known as heel prick tests.

The NHS examines babies for only nine genetic diseases compared with 57 in the US and 43 in Italy.

A report by the non-profit Genetic Alliance UK states that this “cruel” system means that children do not receive life-saving treatments because their conditions are not recognised until it is too late.

He added that “the lack of routine disease screening means that the path to diagnosis and treatment…can be a fatal obstacle course”.

When babies are five days old, a midwife, nurse or health visitor takes a small blood sample by pricking the child’s heel and squeezing a few drops of blood.

More than 600,000 babies are tested in this way every year in the UK. They are tested for diseases such as sickle cell disease and cystic fibrosis.

But the report said thousands of children could be saved if more diseases were identified in the tests.

Very few high-income countries test as few conditions as the UK,” she concluded.

The report calls for a review of the programme, including a pilot project to sequence the NHS genome of all babies for testing for rare diseases. These include tests for adrenoleukodystrophy (ALD), a rare metabolic disorder that causes brain function to decline.

Sara Hunt, whose son Alex died of ALD at the age of 19, said he would still be alive if the NHS routinely examined all newborns for the disease.

She added, “My child has died. This death was cruel and his life was unnecessarily painful and disturbing. People talk about British postcode lotteries for health care, but children in every postcode in the UK are exposed to a risk not seen elsewhere.

This is not just unfair and unfriendly to the nation’s children, it is heartbreaking, unnecessary and backward.

She said: “It is time we gave all children a better chance.

The Genetic Alliance report warned that “missed opportunities” to identify diseases mean families face long and slow paths to diagnosis, which can lead to painful deaths of their children.

It said, “The family challenge to cope with the devastating effects of a rare disease affecting an infant is enormous.

The disease can gradually creep into the life of a family, with missed milestones, unusual illnesses or symptoms occurring slowly, or it can very suddenly come to hospital with an emergency trip to cope with an attack, loss of consciousness or other crisis.

Jayne Spink, Chief Executive of Genetic Alliance UK, said: “The pace of adoption of new bloodstain screening programmes in the UK has become so slow that we have been left behind by the majority of other high-wage countries.

It is painful to think of the unnecessarily long diagnostic paths that some families in the UK have to go through, and worse still, the missed opportunities – including treatment – to think of.


About Author

Mette Frederiksen is a The Washington Newsday correspondent. With her coverage of general science, NASA and the interface between technology and society, Frederiksen has been in the Science Desk's Technology Beat since joining Washington Newsday in 2018.

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