While other European countries screen for this devastating rare disease, the UK is lagging behind

By Michael Oliver

Sweden implemented newborn screening (NBS) for spinal muscular atrophy (SMA) on a national scale in October – joining multiple other European countries, such as Germany, the Netherlands and the Ukraine in recognising the immense benefits newborn screening can have for babies born with this devastating neuromuscular disease.

In the UK, SMA is still not part of the routine testing every newborn baby undergoes via a simple heel prick at the hospital, despite the availability of three innovative SMA treatments on the NHS, which are proven to unfold their best possible outcomes the earlier they are administered. Why is that?

But let’s back up for a moment – newborn screening (NBS) started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment and that early intervention was required for the best outcome. Infants with PKU appear normal at birth but are unable to metabolise the essential amino acid phenylalanine, resulting in irreversible intellectual disability. In the 1960s, Robert Guthrie developed a simple method that could detect high levels of phenylalanine in blood shortly after a baby was born. It’s now over 50 years since the introduction of UK-wide dried blood spot screening for PKU in newborn babies.

In the UK, NBS is now routinely performed in infants after birth to detect rare but serious disorders that can be treated early in life, ranging from sickle cell disease, congenital hypothyroidism, inherited metabolic disease and, most recently, cystic fibrosis. And while this is an important intervention, the UK has ground to make up when compared internationally.

According to a recent report, A landscape assessment of newborn screening (NBS) in Europe, the UK only ranks 18th, with nine diseases included in national screening. By comparison, Sweden – a country that added SMA to its national screening panel in October – is screening for 26 diseases at birth.

‘It is estimated that the cost of caring for a child with a genetic paediatric rare disease is between €2m and €5.6m over ten years, and these costs increase with age’

SMA, a rare, devastating genetic disease, is currently under consideration by the UK National Screening Committee (UK NSC) as an addition to the national screening programme. When last under review, the UK NSC decided not to recommend screening for SMA due to, among other considerations, lack of available treatments and lack of long-term effectiveness data.

However, since the UK NSC rejected newborn screening for SMA in 2018, the NHS has revolutionised care for children, young people and adults who have SMA by securing and funding access to three new treatments. Earlier this year, at its June 2023 meeting, the UK NSC recommended that a new independent modelling study on screening for SMA in the UK should be commissioned, as well as a screening pilot.

This is a step in the right direction but given that, on average, in the UK a child is born with SMA every five days, conducting a pilot programme instead of implementing immediate access to NBS for SMA on a national level is falling short for those families experiencing the impact of this devastating disease.

The modelling study and screening pilot will take time to implement – time that babies with SMA do not have. Their motor neurons start degenerating shortly before birth, resulting in irreversible damage. By the time a doctor can detect symptoms, motor neurons have already been lost, with grave impact on the child’s future and its family’s quality of life. On average, it takes approximately six months to diagnose a baby with SMA, by which time ~95% of motor neurons have been lost. The loss of motor neurons in SMA cannot be reversed, so patients with symptoms at the time of treatment will likely require some supportive respiratory, nutritional and/or musculoskeletal care to maximise functional abilities. NBS can identify the disease before symptoms show, detecting the disease via genetic testing and thus enable treatment intervention before irreversible damage is caused.

Regardless of which treatment is chosen by the treating physician, clinical data has proven that the earlier a patient is diagnosed and treated, the better the chance for successful outcomes, including the ability to achieve motor milestones that were previously unachievable for SMA babies in the natural history of the disease. Babies who are treated pre-symptomatically have been shown to have a chance at a near normal life: crawling, taking their first steps, playing in the playground, experiencing their first day in school and contributing to society in a similar way to healthy peers.

‘It has been estimated that implementing newborn screening for SMA in the UK has the potential to save £62m per year’

While the scarcity of evidence on the impact and benefit of NBS on health outcomes was once a barrier for health system adoption, this is no longer the case. It is now recognised that by identifying patients with chronic diseases when they are newborns, care costs per child can be reduced, which allows for cost savings and additional resources to be allocated to other areas of need. It is estimated that the cost of caring for a child with a genetic paediatric rare disease is between €2m and €5.6m over ten years, and these costs increase with age. Across the EU, multiple cost-effectiveness studies have been published and even in the UK itself, NBS cost-effectiveness has been demonstrated (eg, Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England and Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening—A Systematic Review). It has been estimated that implementing newborn screening for SMA in the UK has the potential to save £62m per year.

The National Institute for Health and Care Excellence (NICE) has recognised the value of treating babies pre-symptomatically and recommended specific routine access to treatments for this patient population. Both the expert and patient communities also recognise the immediate need to implement NBS for SMA in the UK. The UK SMA Newborn Screening Alliance calls for ‘the earliest possible introduction of newborn screening for SMA in the UK’ and experts like Giles Lomax, CEO, Spinal Muscular Atrophy UK, have been quoted saying that “it is vitally important that the NHS continues to prioritise these life-saving services to ensure that everyone with SMA can live the best independent life possible”.

To put this request into context, about 45% of European countries are already covering SMA in their NBS panels, according to the European SMA NBS Alliance. While this includes countries like Germany, the Netherlands and Belgium, it also includes countries with a much smaller GDP than the UK, such as Poland, the Czech Republic and Croatia.

These countries have also been quick to implement NBS for SMA, to give patients with SMA the best chance at positive treatment outcomes and alleviate their healthcare burdens. Most recently, Serbia implemented NBS for SMA in all maternity hospitals in July. Serbia has a GDP per capita of about $9,300, whereas the UK’s was last estimated at $45,850.

Given the effective treatments now available for SMA and the importance of treatment prior to the onset of symptoms, testing for SMA should be incorporated into screening of all newborns and this turning point is now within reach in the UK. We will continue to support patient and professional organisations to ensure that every family with a newborn baby with SMA can benefit from early diagnosis and treatment, as in SMA, every moment matters.

Michael Oliver is General Manager, Northern European Cluster at Novartis Gene Therapies