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It is a tragedy for a child to be diagnosed with a severe and disabling lifelong medical condition. But in addition to the child’s difficulties and suffering and the emotional cost to their family, such maladies can also create a significant financial cost to both the family and to society; whether due to the cost of treatments, the expense of medical equipment and home adaptations, or indeed the loss of a family’s productivity.

Child holding baby

In the UK, a child is born every five days with one such disease: spinal muscular atrophy (SMA), a condition characterised by muscle weakness and difficulties in breathing and swallowing. Three drugs are presently available as treatments for SMA in the UK, reimbursed by the National Institute for Health and Care Excellence (NICE). These drugs halt the evolution of the disease, and help many patients gain some motor function. However, they are not restorative: a child who is treated after the onset of symptoms will experience severe muscle weakness for the rest of their life.

In contrast, children treated before the onset of symptoms present with normal or near-normal motor development, allowing them to live practically free from the effects of the disease.

Newborn screening programs, which can identify patients using genetic markers rather than through diagnosis of symptoms, are therefore crucial in intercepting SMA early. A number of such programs have been initiated around the world since 2018, providing significant evidence for the dramatic benefit of treatments administered at birth. 

Researchers at the University of Oxford and CHU of Liege, Belgium, have meticulously identified and compared the financial costs associated with the care of patients when treated at birth against the same costs for those diagnosed after displaying symptoms. Their conclusions are astonishing.

“We studied 14 patients identified in Southern Belgium since 2018, and treated immediately after birth, and compared them with 42 patients treated after presenting with symptoms,” said Professor Laurent Servais, primary investigator of the STRONG research group at the University of Oxford and main author of the publication. “First, patients identified and treated at birth are doing much, much better – actually, most of them have no symptoms! But the cost associated with their care is also much lower. If we extrapolate to the UK, we can estimate that each year we do not screen for SMA in the UK, we spend £147 million that we would not be spending if screening was in place. That equals £280 a minute! Screening for SMA could not only save lives, it could not only save the health of children, but it also could save a lot of money for the NHS.”

Today, nearly 50% of children are screened for SMA in EU, and 97% in the USA. Screening programs have also been initiated in Japan and Australia.  In the UK, a small pilot program is ongoing in the Thames Valley. “We hope that this newborn screening program will soon be extended nationwide,” said Professor Servais. “It is important for children, for families, and it could save a massive amount of money.”