A campaigning group has blasted the NHS newborn baby screenings as “not good enough” in a new report.
While babies born in the UK are screened for just nine conditions, while those born in Europe are screened for 20 and newborns in the US for more than 50, said Genetic Alliance UK, a charity focused on helping people living with genetic conditions.
The current screenings could be expanded without significant financial cost, it found in its report.
Currently, the (non-obligatory) screening programme tests a baby’s blood for certain genetic conditions and rare illnesses.
This typically happens within the first week of life, around five days after the baby is born, the NHS website explains. A midwife will collect the sample by pricking your baby’s heel and squeezing out a few drops of blood onto a blood spot card, which is then sent off for testing.
The conditions tested for – sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria, medium-chain acyl-CoA dehydrogenase deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1 and homocystinuria – are all rare but serious. The vast majority of children test negative for all of them.
There are other, rarer, serious conditions that can be screened for but currently aren’t – the US National Institute of Health has a list of 34 ‘core’ and 26 ‘secondary’ conditions, for instance.
The UK National Screening Committee is the body in charge of recommending new screenings, weighing the risks and benefits of any new ones. The risks include getting misleading results back – thereby causing stress and anxiety to families involved.
Professor Anne Mackie, director of screening at Public Health England, told the BBC: “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.”
But Jayne Spink, chief executive of Genetic Alliance UK, 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.”
She continued: “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.”