Children are dying because UK has a ‘second rate’ baby screening programme to identify rare diseases3 min read

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Children are dying because UK has a ‘second rate’ baby screening programme to identify rare diseases, new report warns

  • Britain lags behind at identifying rare diseases through the ‘heel prick test’
  • NHS screens for just nine genetic conditions compared with 57 in the US
  • Report says thousands of children could be saved if more diseases were identified

Children are dying because Britain has a ‘second rate’ baby screening programme, a report has warned.

The UK lags behind most other developed nations at identifying rare diseases through its screening of infants, commonly known as the heel prick test.

The NHS screens babies for just nine genetic conditions – compared with 57 in the United States and 43 in Italy.

A report by the charity Genetic Alliance UK said this ‘cruel’ system means children miss out on life-saving treatment because their conditions are not detected until it is too late. 

It added that the lack of routine screening for diseases means ‘the pathway 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.

Each year, more than 600,000 babies are tested in this way in the UK. They are screened for conditions 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 screen for as few conditions as the UK,’ it concluded.

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The report calls for an overhaul of the programme, including a pilot for NHS genome sequencing of all babies to screen for rare diseases. This includes tests for Adrenoleukodystrophy (ALD), a rare metabolic disorder which causes brain function to decline.

Sara Hunt, whose son Alex died from ALD aged 19, said he would still be alive if the NHS routinely screened all newborns for the condition.

She added: ‘My child died. That death was cruel and his life was unnecessarily painful and distressing. People talk about UK postcode lotteries for health care but children in every postcode in the UK are exposed to risk not seen elsewhere.

‘This isn’t simply unjust and unkind to the nation’s children, it is heartbreaking, unnecessary and behind the times.

She said: ‘It’s time we gave all children a better chance.’

Genetic Alliance’s report warned ‘missed opportunities’ for detection of diseases mean families face long and slow paths to diagnosis, which can result in the painful deaths of their children.

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It said: ‘The family challenge of dealing with the devastating impact of a rare condition affecting a young child is tremendous.

‘The condition may creep into a family’s life gradually with missed milestones, unusual illnesses or symptoms slowly appearing, or they can arrive very suddenly with an emergency trip to a hospital to deal with a seizure, loss of consciousness or other crisis.’

Genetic Alliance UK chief executive Jayne Spink said: ‘The pace of adoption of new bloodspot screening programmes in the UK has become so slow that we have been left behind by the majority of other high income countries.

‘It is painful to think of the unnecessarily long diagnostic pathways that some families in the UK must endure, and worse to think of the missed opportunities – including treatment.’

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