Children dying because 'second-rate' screening misses rare conditions

23 July 2019, 03:36 | Updated: 23 July 2019, 04:04

Children in the UK are dying because not enough rare genetic conditions are being screened for at birth, according to a new report.

Genetic Alliance UK has called the country's screening programme "second rate". The NHS conducts just nine tests on newborn babies, compared with 43 in Italy and 57 in the US.

The tests in question normally happen when a baby is about five days old, with a heel prick blood spot test screening for conditions such as cystic fibrosis and sickle cell disease.

This can mean children grow up with undetected rare conditions, delaying potentially life-saving interventions.

Sara Hunt's eldest son Alex was a healthy baby, but at the age of seven he started having problems with his eyesight, hearing and balance.

He was diagnosed with Adrenoleukodystrophy (ALD), a genetic degenerative brain condition. He battled the disease for 12 years but died in 2012.

She said: "If he been diagnosed earlier, for example at birth, he could have had treatment with a bone marrow transplant. His outlook would have been totally different."

Alex's younger brother Aiden was tested when he was still a baby, and was also found to be a carrier.

Ms Hunt added: "Aiden was a year old when Alex was diagnosed - as he was gaining skills, Alex was losing skills, so that was tricky.

"We found out that he had the same diagnosis, but we had greater hope for him because it could be monitored. Once they saw signs developing, he could have a transplant.

"When he was seven years old these signs started to happen, he had a successful bone marrow transplant. He's now 19 at university living a lovely life, one that I wish Alex had."

The report found that at least 13 additional conditions could be identified using samples already taken.

Extending screening programmes would not only save lives but give parents access to information to help them with future reproductive planning, the report added.

Jayne Spink, the chief executive of Genetic Alliance UK, 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.

"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."

The hope is screening can be extended using genome sequencing - the process of reading someone's DNA and proving a full genetic profile.

The UK is a leader in this technology following the 100,000 Genome project. Doing this at birth could pick up many more conditions.

Professor Anne Mackie, director of screening at Public Health England, said: "The independent screening committee welcomes this detailed and thoughtful report.

"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."