‘Second-rate’ screening test for newborns ‘costing lives’

Families have called for better testing for life-threatening conditions to give children a chance to be treated.

A charity has attacked the UK newborn screening programme, saying it misses rare but life-threatening conditions

Screening programme 'second rate'

The UK’s screening programme for diseases in newborns is “second-rate” and puts lives at risk, a charity has warned.

Genetic Alliance UK said babies are missing out on checks for rare but serious health conditions because the NHS blood test only screens for nine conditions.

This compares with screening for 20 or more illnesses in European countries and around 60 in the US, it said.

The UK’s newborn blood spot (heel prick) test looks for rare but serious conditions including sickle cell disease, cystic fibrosis and six metabolic disorders.

This is usually done when the baby is about five days old and is carried out at home by a midwife or health worker.

Results are usually sent to parents by letter six to eight weeks later.

Pace of screening is too slow

Genetic Alliance UK said some treatable illnesses are going undetected even though affordable ways to expand the screening test do exist.

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Its chief executive, Jayne Spink, said: “The pace of adoption of new blood spot 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.

“We have to ensure newborn screening keeps pace with diagnosis in later life and we must embrace the potential of both our current technology and that of genomics.”

Sara Hunt’s boys, Alex and Ayden, were born with adrenoleukodystrophy (ALD).

This is a rare inherited disorder affecting the adrenal glands and “white matter” of the brain, causing a progressive loss of physical and mental skills.

ALD is not routinely checked for in the UK as part of the newborn heel prick or blood spot test screening programme Alex was not diagnosed until he was seven and died aged 19, but Ayden’s condition was picked up earlier and he has received treatment.

Ms Hunt, from East Dulwich in south-east London, said: “My child died. That death was cruel and his life was unnecessarily painful and distressing.

“People talk about UK postcode lotteries for healthcare 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.

“It’s time we gave all children a better chance.”

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New recommendations in September 2019

Professor Anne Mackie, director of screening at Public Health England, said the UK National Screening Committee, which advises ministers on population screening, will make recommendations later in the year.

She said: “Every September, the committee makes a call for new conditions to be considered for screening and this year they’ve received a number of proposals to consider new diseases as part of the newborn blood spot screening programme.

“The committee will make its recommendations by the autumn.”