Debate on Patients with Rare Diseases Covers Newborn Screening for SMA

On Thursday 9th March 2023, a Westminster Hall debate was held in the House of Commons to consider “Patients with Rare Diseases”. The Alliance was delighted to see several MPs raise issues related to newborn screening, and specifically newborn screening for Spinal Muscular Atrophy (SMA).

Liz Twist, Labour MP for Blaydon spoke at length about newborn screening and cited SMA as a specific example on several occasions. She emphasised the importance of newborn screening for conditions where presymptomatic treatment has a significant impact on clinical outcomes, saying, “Newborn Screening is an absolutely vital tool in the light of new treatments being developed that can have a really life-changing impact if delivered pre-symptomatically”. SMA was mentioned as an example of this, “We have children born with SMA that is not identified at the earliest opportunity. Treatments are helpful only if they are used immediately, before symptoms develop. It is really important that we do that.”

A few weeks earlier, the Alliance had joined a meeting of the Rare, Genetic and Undiagnosed Conditions, which Liz Twist MP chairs, to discuss newborn screening for SMA. It was great to see Liz picking up on this issue during a debate and ensuring greater awareness of the challenges facing rare conditions that should be added to the UK newborn screening programme. Liz’s comments during her speech demonstrate that for people with a deep understanding of rare diseases, the case for newborn screening for SMA is clear.

Comments on newborn screening were also made by Deidre Brock, SNP MP for Edinburgh North and Leith and Feryal Clark, Labour MP for Enfield North.

In the Ministerial response, Helen Whately MP, pushed back on calls for more conditions to be screened for in the UK, saying, “There is a good reason why we screen for fewer conditions in the UK than in other countries: it is because we believe that we have a more rigorous approach to evaluating the benefits, and also potential harms, of screening than other countries.”

The Alliance strongly believes that a rigorous process for assessing conditions for newborn screening is important. However, a proportionate approach must be followed and, in the case of SMA, each five day of delay means that another child has been denied a healthier future.

Read relevant MP comments from the debate below and the full transcript of the debate can be found here.

Newborn screening related comments:

Liz Twist MP comments on newborn screening for SMA at Westminster Hall Debate on patients with rare diseases: “I will refer to issues that we need to look at further, some of which are touched on in the rare disease action plan, particularly the second version for England, which the Minister issued two weeks ago, on Rare Disease Day. First, I will talk about newborn screening, and specifically the issue of faster diagnosis. The UK could be doing more with newborn screening. The blood spot heel-prick test given to every newborn in the UK screens for a maximum of nine conditions, but many countries in Europe, and other parts of the world, screen for more than double that number.

Newborn screening is an absolutely vital tool in the light of new treatments being developed that can have a really life-changing impact if delivered pre-symptomatically. Take spinal muscular atrophy, a rare condition causing progressive muscle weakness and loss of movement due to muscle wasting. Without swift treatment, it is the leading genetic cause of infant death. Babies treated pre-symptomatically can experience life without symptoms, but once symptoms have developed, most infants with SMA will never walk independently. Many will need mechanical ventilation, nutritional support and continuous care.

Ten European countries and all but two US states have moved to approve SMA newborn screening, but we are yet to see progress on that in the UK. We have children born with SMA that is not identified at the earliest opportunity. Treatments are helpful only if they are used immediately, before symptoms develop. It is really important that we do that. There are other conditions that we believe could helpfully be screened for in the newborn heel-prick test. That would allow for the treatment of a number of conditions as children develop.

Unfortunately, due to the rare nature of some conditions, it can be challenging to develop a large body of evidence to support newborn screening for them, in the light of the high bar set by the UK National Screening Committee. As chair of the all-party parliamentary group on rare, genetic and undiagnosed conditions, I know that Genetic Alliance, which provides our secretariat, has held discussions with a representative of the committee to look at the wider issue, not specifically SMA. I have recently been working with the all-party parliamentary group for muscular dystrophy and the rare disease community on an inquiry on newborn screening for SMA. Hearing the testimonies from families and clinicians, it is clear that there needs to be a change to the process in recognition of the difficulties inherent in making decisions about rare conditions, and the difference that a longer list of screened-for conditions could make.”

Deidre Brock, Scottish National Party MP for Edinburgh North and Leith, comments: “As the hon. Member for Blaydon mentioned, newborn screening has a vital role in early diagnosis of some rare diseases and the initiation of early treatment to reduce complications. The Scottish Government are represented on the UK National Screening Committee, which makes its recommendations to all four health Departments across the UK. Through Scotland’s rare disease implementation group, those living with a rare disease will be involved in any future screening considerations, and given information so that they understand how screening impacts them and their families.”

Feryal Clark, Labour MP for Enfield North comments: “With that in mind, I welcome the Government’s 2023 rare diseases action plan, but I have a few questions about the detail, starting with screening and early diagnosis. I was pleased to see the Government focus on that area in the action plan, which suggests that the NHS is exploring the implementation of whole genomic sequencing to screen for up to 200 rare genetic conditions in newborns. That is fantastic news.

Will the Minister clarify whether that scheme will be accepted and be implemented? As we have heard this afternoon, funding is a major issue in this area. If this plan is going to be implemented, will the Minister tell us how it will be funded? There is a lack of clarity in the action plan.

Early diagnosis can prevent and mitigate many of the complications associated with rare diseases. Therefore, it is imperative that such a scheme is made available as soon as possible. We heard from the hon. Member for Strangford on MFS, and from my hon. Friend the Member for Blaydon on SMA. If these conditions are diagnosed early on, while there may not be a cure, there can be treatment. That is why it is really important to get more information about this scheme as soon as possible.

The 2023 action plan also states that changes to the UK National Screening Committee have helped to improve how decisions are being made on newborn screening. Will the Minister clarify when those changes will come into effect and be actioned? I do not want to look back, but if we look back to 2021, the UK screened for just nine conditions—so hon. Members will understand why I was excited to see the 200 figure. We screened for only nine conditions in 2021, whereas Iceland and Italy screened for more than 40. Will the Minister update us on how many conditions are being screened for in the UK and whether the number has increased from nine since 2021?”

Ministerial Response – Helen Whately MP, Minister of State for Social Care: “The hon. Member for Blaydon mentioned the newborn heel prick, or newborn blood spot screening programme, and asked whether we could screen for more conditions, specifically spinal muscular atrophy, or SMA. We test for more than 30 rare conditions during pregnancy and the newborn period, and nine conditions via newborn blood spot screening. There is a good reason why we screen for fewer conditions in the UK than in other countries: it is because we believe that we have a more rigorous approach to evaluating the benefits, and also potential harms, of screening than other countries.
The 2022 rare diseases action plan committed us to establishing a blood spot task group to further develop the evidence base for newborn blood spot screening. The UK National Screening Committee has since established the blood spot task group, which is working to improve the evidence available to the screening committee when considering the screening programmes to be added to the blood spot.”

Liz Twist response: “Having had discussions with the newborn screening committee representative, I am aware of the concern that we do not want to go too far, and we want to be rigorous, but it does seem that, in comparison with many other countries, we are selling ourselves short. I am glad to hear about the taskforce, and I know that Genetic Alliance UK is represented on that, but there is real concern in the rare disease community that there are things that we could be testing for. We do not seem to be able to make progress. SMA is a classic case of that.”

Helen Whately: “I hear the hon. Lady’s concerns. There is clearly a level at which it would be inappropriate for me to get involved in such decisions, which are generally made by expert committees, but I am happy to look into her question further, and to write to her with what I find out.”