Spinal Muscular Atrophy: Newborn Screening Test

[David Mundell in the Chair]

[David Mundell in the Chair]

I beg to move,

That this House has considered e-petition 755980 relating to spinal muscular atrophy and the newborn screening test.

It is a pleasure to serve with you in the Chair, Mr Mundell, and a privilege to open the debate as a member of the Petitions Committee. I want to begin with two little girls. In May last year, twin daughters were born prematurely to the petitioner, Jesy Nelson, who is a constituent of the hon. Member for Broxbourne (Lewis Cocking). Several months later, they were diagnosed with spinal muscular atrophy type 1, which is the most severe form. Their mother was told that they would, in her words, “probably never walk”.

In January of this year, Jesy chose to share that diagnosis publicly, saying that it would be

“selfish to keep this to myself and not potentially save a child’s life.”

This petition is the result, and I pay tribute to her for the way that she has courageously told her story, using her own unique reach. As a result, the petition was signed by 149,692 people, including 225 of my constituents in Sunderland Central. I was grateful to meet Jesy earlier in Westminster Hall, and I thank her and every family who has turned the hardest experience imaginable into a campaign for other people’s children.

In preparing for this debate, I also met Giles Lomax of SMA UK, Muscular Dystrophy UK, and Professor Francesco Muntoni of the Neuromuscular Centre at Great Ormond Street. I thank all of them for their time, and I also thank the Petitions Committee staff for their help as I prepared for this debate.

SMA is a rare genetic condition that attacks the motor neurones, causing progressive muscle weakness. Around 1,500 people in the UK live with it and about 48 babies are born with it each year—roughly one a week. With type 1 SMA, symptoms appear within the first six months and the effects are profound. Children cannot hold up their heads or sit unsupported; they may be tube-fed and need help to breathe. Until recently, up to 90% of untreated babies either died before the age of two or required permanent ventilation.

I used the past tense there deliberately and happily, because the important fact in this debate is that SMA is no longer untreatable. There are now three disease-modifying therapies in this country, including a one-time gene therapy that did not exist a decade ago. They are approved by the National Institute for Health and Care Excellence, and funded by the NHS. A condition that was too often a death sentence for babies is now one that we can treat.

I commend the hon. Gentleman for, as he often does, leading this debate on a petition that has generated a lot of interest. I understand that the one of the life-altering gene therapies for SMA, Zolgensma—I hope that I have pronounced it correctly—is available on the NHS, but such gene therapies only work if they are administered before irreversible nerve damage and muscle wasting occur. My hon. Friend the Member for Upper Bann (Carla Lockhart) has been at the forefront on this issue. Does the hon. Gentleman agree that perhaps what we really need is a UK-wide purchasing power for these heel-prick testing kits to be fully extended to all local health trusts without delay? That would make sure that those who have SMA are caught in time.

The hon. Gentleman is absolutely right and I will come on to talk about screening in just a minute.

It is a pleasure to serve under you, Mr Mundell. My hon. Friend is talking about lifesaving treatments. One of my constituents has a niece who was born with SMA type 1 and previously would have been at risk of dying. My constituent was told that her niece was unlikely to live past the age of two, but because of the advances in treatment that my hon. Friend has just spoken about, she has just celebrated her ninth birthday. However, she did have to be fed through a stomach pump. Does my hon. Friend agree that for £3.1 million we can get full coverage across England, Wales and Northern Ireland, and ensure that all babies are tested, so that those with SMA can be treated as early as possible?

I agree with my hon. Friend, though I think the issue is not mainly financial; I will come on to that in a minute.

As other Members have said, the key point is that treatments are dramatically more effective the earlier they are given: before symptoms appear and before irreversible damage is done. Once motor neurones are lost they do not come back.

I congratulate the hon. Member on his speech. I join him in paying tribute to Jesy Nelson and her campaigning. I also pay tribute to the parents of little Charlie in my constituency. In the words of his mother, he was

“very lucky to celebrate his first birthday last August.”

He was treated with gene therapy after being diagnosed and following symptoms. He is now living his life, but in a wheelchair. Had he been screened at birth he might have had treatment sooner and he might be walking right now.

The hon. Lady is entirely right and I have heard a number of those heart-wrenching stories; she does well to speak so movingly on behalf of her constituent. That is a testament to the key intervention of getting a diagnosis as soon after birth as possible. Today, a baby with type 1 SMA is typically not diagnosed until around six months of age. By then, for many the window when treatment would have had the most impact has closed.

There is an alternative; screening at birth through the existing NHS heel-prick test, which is routinely done on day five of a baby’s life. That already screens for 10 different serious conditions.

Thank you, Mr Mundell, for your chairmanship. I, too, pay tribute to the determination of Jesy Nelson and all the parents and young people who have been campaigning for this. I was alarmed to discover from parents this weekend that Portsmouth will not be included in the roll-out of the SMA screening this October. That means that babies born in my city will miss that early diagnosis and will face potentially devastating conditions that early treatment might well have saved them from. My hon. Friend the Member for Portsmouth South (Stephen Morgan) and I have written to our integrated care board to find out why Portsmouth is not included and whether it will change its mind.

My hon. Friend is absolutely right, and I will come on to talk about the potential postcode lottery. I do not believe it is a decision for individual ICBs to make, but a national decision that includes the UK National Screening Committee, which I will come on to.

The screening that I have described is already in place in dozens of countries. Across Europe, 75% of children are screened at birth and since 2024, every newborn in the United States and Canada has been screened. Ukraine managed to begin newborn screening for SMA in the midst of a full-scale Russian invasion. Given that, the petitioners simply ask, “Why is this screening not in place universally here too?”

On 23 March, Scotland rightly introduced routine screening. In October, babies born in England will benefit from the in-service evaluation framework. Yet families in Northern Ireland do not qualify whatsoever. Does the hon. Member agree that the Government must commit to working across jurisdictions with the Northern Ireland Department of Health to ensure that the evaluation framework is immediately extended to Northern Ireland so that a child’s chances of walking, breathing and surviving are not dictated by the part of the United Kingdom that they are from?

I thank the hon. Member for making one of his excellent interventions. Clearly health is a devolved matter in Northern Ireland and Wales, where screening is also not available, but the hon. Member is absolutely right. It would be difficult to explain to parents anywhere in the UK why this screening is increasingly standard practice internationally but is not available in every nation of the United Kingdom.

The petitioners are clear that all the conditions necessary to begin screening have been met. The test exists, the treatments exist and the evidence tells us that screening would save both lives and money. In the UK, screening is overseen by the independent UK National Screening Committee, which gives recommendations to Ministers. I was unable to meet with the committee in preparation for the debate, but I am sure that the Minister has had the benefit of its advice.

I recognise, as we all must, that the committee’s independence matters. However, its decision making and the way in which it balances risk, evidence and benefit must be subject to ministerial oversight. In this case in particular, there are questions about how those three elements have been balanced, and specifically about how far the committee seemingly required NHS-specific evidence when significant international evidence already exists.

When the National Screening Committee reviewed SMA for potential inclusion in the screening programme in 2018, the committee did not recommend screening, but campaigners like SMA UK did not walk away; they kept on doing the work. New cost-effectiveness modelling commissioned by the screening committee and published last year finds that screening for SMA is likely to be lifesaving and cost-effective.

I congratulate my hon. Friend on introducing this debate and welcome your chairmanship of it, Mr Mundell. My hon. Friend referred earlier to 90% of children who are untreated potentially dying before their second birthday. That is a sobering statistic, but it is not a statistic; it is the reality of the lives of children, families and parents. Does my hon. Friend agree that we need to go faster sooner to roll out a comprehensive programme, as so many other countries have managed to do?

My hon. Friend is absolutely right. This is a matter of pace and of asking, “When?” not “If?” or “How?” because both those questions have already been answered.

I turn to the Government’s response. The previous Secretary of State for Health, my right hon. Friend the Member for Ilford North (Wes Streeting), met Jesy Nelson, the petitioner, in January. The Government accepted the case for an in-service evaluation and brought the date for that live NHS trial forward from January 2027 to October this year, when screening will begin to be rolled out. I, the petitioners and others welcome that, though there is a sadness that it has taken so long to get to that point.

We must, however, be honest about where that decision leaves us. As my hon. Friend the Member for Bootle (Peter Dowd) alludes to, the real argument now is about pace and fairness. The evaluation is funded. It will run at seven of England’s 13 screening laboratories, covering around 72% of births. The remaining six sites, which include the site that covers the constituents of my hon. Friend the Member for Portsmouth North (Amanda Martin), and which account for the remaining 28% of babies born in the UK every year, are not at present in the plan. That does not seem to be an accident but the design.

Put in human terms, of the 48 babies born with SMA in England each year around 35 would be diagnosed by the introduction of SMA screening in this evaluation but 13 would not: there would be 13 babies a year born with the same condition but on the wrong side of an arbitrary line that they did not choose who will go undiagnosed until damage is done. A baby born in one postcode will be screened, treated early and may walk, but a baby born in another postcode in the same week will not, and by the time anyone knows it may be too late. That is the postcode lottery that Jesy told me about, and which deeply concerns her, in its starkest form.

It is not about a difference in waiting times but about whether a child walks, breathes unaided or feeds normally for life. That is why Professor Muntoni’s assessment needs to be heard. He asked me specifically to put this on the record: he described a trial that deliberately leaves some babies unscreened to serve as a comparison group as—his word—“unethical”. We are withholding from some children a diagnosis that we are fully capable of making and that we know will help to shape their lives in order to gather data on something that Professor Muntoni considers already internationally proven. That is the view of not just one eminent clinician, I am told, but the wider SMA clinical community.

I will make a little progress and finish my point; I can see the time getting away and I want to make sure that other Members can speak.

The question is why, when so much of the world has acted, the United Kingdom is moving so slowly. That caution sits oddly with the Government’s welcome ambition elsewhere. The generation study is sequencing the whole genome of 100,000 newborns for more than 200 rare conditions, and the Government have committed to offering whole genome sequencing to every newborn within a decade, which is a welcome part of their 10-year health plan. That is a world-leading vision, and I welcome it, but there is some irony in promising to read every baby’s entire genome within 10 years while not rolling out today across the whole of England one well-established, internationally proven test for a single treatable condition.

Screening decisions must, of course, be taken with care. A national programme that affects 650,000 babies a year must be safe, accurate and deliverable across many laboratories. I recognise that the therapies are relatively new and therefore their lifespan impacts require ongoing evaluation. There are legitimate grounds for further research, but the evidence that we have now on its impact should sharpen our urgency, not dull it. I am told that the research the screening committee commissioned estimates that each year, screening could prevent around two babies needing permanent ventilation, prevent around three early deaths and allow around 37 babies to live relatively normal lives.