Recap and Update on Progress towards the SMA screening in-service evaluation (ISE)
Recap and Update on Progress towards the SMA screening in-service evaluation (ISE)
31st July 2024
Patient and clinical representatives and many other experts have been taking part in the SMA newborn screening ISE Partnership Board and sub-group meetings. These started in January 2024 with the aim of setting up and testing a SMA newborn screening service in parts of the UK. Independent researchers would evaluate this and report to the UK National Screening Committee (UK NSC) who makes recommendations to Ministers in the four UK countries about screening programmes.
As with all government policy work, some meetings to plan for the ISE had to be delayed due to the election. Now they have started again, the UK NSC blog, released today reports on significant progress. We summarise what discussions are happening, and why, and where plans have got to.
There are 6 labs in England that have the equipment to test blood spot samples for severe combined immunodeficiency (SCID). This equipment can be used relatively easily to test for SMA. They cover approximately 60% of births in England, or around half of all babies born in the UK.
We understand that a proposal to run a separate, but parallel NBS for SMA research project in Scotland could not go ahead due to a lack of funding from the Scottish Government.
In England, a baby’s blood spot sample is taken 5 days after birth. It is then sent to a screening laboratory for testing for 9 conditions. The SMA test would be added to the blood spot test card for babies born in the areas covered by the SCID labs. The cards would be sent to the labs where the blood spot would be tested for a ‘deletion mutation’ in the Survival Motor Neuron 1 (SMN1) gene. If the test is positive, showing that SMA is suspected, the expert SMA neuromuscular clinical team at the nearest Regional Neuromuscular Centre (RNMC) would be contacted.
To be able to advise parents, the clinician needs to know how many SMN2 gene copies the baby has. This is because in general, the fewer the number of copies, the greater the impact of the SMA on the baby’s health. There are also different treatment options depending on the number of SMN2 copies.
The laboratory group and clinical pathway group have been discussing balancing the need for:
- any potential treatment to start at the earliest possible time
- the expert clinician having as much information as possible when they phone the parent to say they suspect their baby has SMA. On this call, the clinician invites the parents to an urgent appointment for their baby.
The groups have been looking at different options. This includes thinking about:
- how test samples are sent and the time this takes – post and courier services,
- how long it takes to run a laboratory test machine
- expert staff being available – weekends and public holidays
- how acceptable, and what impact it would have, if the clinician did not have the SMN2 copy result when they contact the parents or see and examine their baby.
All the labs and RNMCs involved in the ISE need to have the same system so that there is no ‘postcode lottery’ The groups are expected to finalise their ‘clinical pathway’ recommendation in the next few weeks.
When the clinician sees the baby and their parents, they will:
- examine the baby
- arrange a second blood test to check the result – a ‘confirmatory’ test
- ask if there is any family history of SMA
- discuss what treatment options might be possible
Work started this week on this very important part of the programme. What information is needed and when?
Parents, people with SMA and healthcare staff are actively involved in the development of what will be needed.
The IRG must be able to monitor and collect information to answer the questions the UK National Screening Committee (NSC) has about future NBS for SMA (see below).
The National Institute for Health and Care Research (NIHR) has been developing the brief for this independent research study. They have been taking part in the ISE planning meetings so that they understand the complexities of running this programme and hear the advice of the clinical, patient and other experts.
The NIHR is likely to advertise the brief of the study in late summer 2024, although this date may change. It will contain a strong steer that research applicants should consider the advice of the laboratory group to use the 6 SCID laboratories for the programme. This will shorten the time needed before the ISE is set up and the evaluation study begin.
Academic groups that apply to undertake the study will attend a workshop to discuss the aims of the study in more detail. Key members of the ISE planning group will explain what conclusions they have reached about the best way to set up the ISE ‘test’ programme. This will include recommendation on the clinical pathway.
This will depend on how quickly:
- the independent research team that is selected agrees where and how the programme will be set up and is commissioned to do the research work
- the selected labs are ready to start
- NHS England can set the programme up
NHS England (NHSE) representatives have been taking part in the ISE meetings and groups.
NHS England (NHSE) has started the detailed forward planning needed for setting up and starting the ISE. This is complex as it will involve budgeting, workforce decisions and training across a number of NHS Trusts.
NHS England has said that the 2025 timescales are challenging given current resource constraints, but there is high level NHSE commitment to the project.
The first report and an interim recommendation by the UK NSC
The academic group undertaking the independent research study will report to the UK National Screening Committee (NSC) in two stages.
The first report will look at how feasible it is to add SMA screening to the current NBS screening programme. The UK NSC will then be able to make an interim recommendation on whether SMA screening should continue to be offered at the SCID sites and also to the rest of the UK. If they make a positive recommendation, work to roll out a UK-wide programme will start.
So that it is ready for a possible positive decision, the laboratory group will work on planning how the programme would be rolled out to other laboratories.
The second report and a final recommendation by the UK NSC
The UK NSC wants answers to a wide range of questions before it will make a final recommendation.
The NSC will consider a wide range of reports. This will include:
- a second report from the independent research group. They will continue to collect information from the original ISE ‘test’ programme
- results of the study on how acceptable NBS for SMA is to the general population, the SMA Community and health care professionals that has been run by Warwick University (link).
- what NICE has to say about the effectiveness of treatments
- results of a new UK-focused model that will report on the cost and clinical effectiveness of the programme. The Sheffield Centre for Health and Related Research (ScHARR) has been commissioned to develop this study.
Every month four babies are born who have SMA.
We are actively supporting this partnership work with the ISE.
We will be doing all we can to ensure that the timeline of mid or late 2025 becomes a firm commitment.
We will be advocating for June 2025 to be the start date. It will then be two years since the UK NSC first announced plans for this ISE.