Majority of parents in UK support national SMA newborn screening
1,000 parents of young children, 1,000 expectant or potential parents surveyed
Most parents and potential parents in the U.K. support screening newborns for spinal muscular atrophy (SMA) as part of the National Health Service (NHS) Newborn Screening Programme, according to a survey developed and funded by Novartis.
“We believe that this government has an opportunity to make newborn screening for SMA a reality,” Johan Kahlström, country president and managing director of Novartis U.K. and Ireland, said in a company press release. “A simple heel-prick test is the key to help prevent avoidable disability and heartbreaking loss for families affected by SMA.”
The test can establish a SMA diagnosis before symptoms emerge, potentially allowing treatment to start early, when it is generally more effective. Starting early on approved disease-modifying treatments may help slow or even halt the progression of disease and disability.
SMA is a genetic condition wherein muscles become weak and waste away. The disease affects motor function and activities such as crawling, head control, sitting, and standing, but problems with breathing and swallowing are also well known, as are other symptoms. Its prognosis depends on the disease’s type and treatment. Without treatment, infants with SMA type 1 often don’t survive past age 2. With appropriate and prompt treatment, life expectancy may increase and motor development may be normal.
The case for newborn screening
Newborn screening uses a small blood sample, collected through a heel prick, to detect genetic mutations related to SMA.
Unlike in the U.S. and many European countries, the U.K. doesn’t screen for SMA.
“Newborn screening of SMA is a medical, ethical and economical emergency” said Laurent Servais, PhD, a professor of pediatric neuromuscular diseases at the University of Oxford, and chair of the UK SMA Screening Alliance. “Today, in the U.K., we are not screening our children for SMA, even though we know how it works and we know how to use it. This must change.”
The Novartis-sponsored survey study included 1,000 U.K. parents of young children and 1,000 expectant or potential parents. The participants, who hailed from England, Northern Ireland, Scotland, and Wales, answered questions via an online form last May. Ninety percent indicated they would want to know as early as possible if their child has SMA. About 80% said they were concerned that the U.K. isn’t screening for SMA and about 80% believed the NHS should immediately begin screening through the Newborn Screening Programme. The responses were fairly consistent across regions.
Novartis estimated a £5 (about $6.71) per test cost to the NHS, which 81% of respondents believed was a good value. A 2023 study put the lifetime savings for the NHS at about £62 million (over $83 million) if England were to begin newborn screening for SMA.
“Implementing SMA screening is not just a medical necessity, it is a moral imperative.” said Giles Lomax, chief executive of SMA UK. “This survey demonstrates the public support for newborn screening, a straightforward, cost-effective intervention that has the potential to save countless lives.”
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