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SMA screening in-service evaluation update

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Significant progress continues with the planning of the in-service evaluation (ISE) of newborn screening for spinal muscular atrophy (SMA).

Results from the ISE, along with a new SMA screening modelling study for the UK screening context, will inform the UK National Screening Committee’s (UK NSC’s) recommendation on whether SMA should be added to the newborn blood spot (NBS) screening programme.

Partnership board discussions

The third meeting of the SMA ISE partnership board received detailed updates on the evaluation’s numerous workstreams.

A recent study from Germany provided encouraging evidence into the clinical effectiveness of newborn screening for SMA, However, important questions remain.

The National Institute for Health and Care Research’s (NIHR’s) Health Technology Assessment (HTA) programme is aiming to publish a research study brief to go out to the research community in mid-July which will inform details of the ISE.

The data and methodology sub-group chair, Rachel Knowles, reported that the HTA brief was comprehensive and appropriate. Rachel said the paper from Germany would feed into the brief and that a workshop will be held when the HTA research call goes live so applicants can be provided with additional details and clarifications.

Rachel also updated the board on the data and methodology sub-group’s work to advise on the size of the newborn population needed for the ISE and the potential sources of data for a non-screened comparator group. This includes the possible use of existing data and stored blood spot samples as sources of information.

Professor Jim Bonham updated the meeting on the work of the laboratory sub-group, including different options for the SMA screening and confirmatory assays, and which laboratories to involve. Prof Bonham praised the active input and support from international colleagues, including experts from the Netherlands and Sweden.

Prof Laurent Servais, the lead for the Oxford/Thames Valley based SMA newborn screening study, offered to explore the possibility of sharing Belgian dried blood spot samples with the ISE to help verify new testing methods. Prof Servais also gave an update on the Oxford/Thames Valley study, reporting that no new cases of SMA had been identified since his previous update (14,000 babies screened so far, with one positive case detected and no false positive results reported).

Clinical pathway sub-group chair Dr David Elliman reported on discussions around the importance of SMN2 copy numbers being known at the time of a baby’s first consultation following a positive screening result. Other issues discussed by the clinical pathway sub-group included the turnaround times required for SMA screening results, and the capacity of laboratories and referral services.

Dr Elliman reported that an additional task and finish sub-group has been set up to look at the parent and professional information and training that will be required to support the ISE. This group will hold its first meeting this month (July 2024).

UK NSC modelling lead Silvia Lombardo reported on progress with the work being undertaken by the Sheffield Centre for Health and Related Research (ScHARR) to develop the new comprehensive and flexible cost effectiveness SMA screening modelling study for the UK screening context.

ScHARR received useful input from clinicians and other experts at a recent workshop. And data from the recent paper from Germany will feed into its model. ScHARR will circulate a more detailed document ahead of getting its modelling approach finalised.

Meanwhile, NHS England (NHSE) is looking to set up an internal early implementation group for the SMA screening ISE.

Andrew Rostron, NHSE’s Deputy Director of Screening (Antenatal and Newborn Screening), emphasised the importance of detailed forward planning to ensure the right resources are in place to deliver the ISE and that expectations are clear and deliverable.

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