The latest meeting of the SMA Screening In-service evaluation (ISE) Partnership Board received updates from its expert sub-groups and reports of significant progress.
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 spinal muscular atrophy (SMA), a rare inherited condition, should be screened for.
NIHR research study brief finalised
The ISE’s data and methodology sub-group has provided detailed input into the development of the National Institute for Health and Care Research (NIHR) call specification which will help potential researchers understand exactly what questions the ISE needs to answer and how.
It is anticipated that the NIHR brief is likely to be advertised in late summer 2024, although this date may change. The NIHR will then aim to hold an advisory workshop with potential applicants to ensure what is proposed is deliverable.
The NIHR call will indicate that the research study should report its outcomes in phases. The first phase should focus on the feasibility of adding SMA screening to the newborn blood spot (NBS) screening programme. This data will enable the UK NSC to make an interim decision on whether SMA screening should be offered to the rest of the UK while the study continues in the background.
The brief will also contain a strong steer that applicants should consider using the 6 laboratories that currently screen NBS samples for severe combined immunodeficiency (SCID) using a method that can be adapted to include testing for SMA as this will shorten the time needed before the evaluation can begin.
Data and methodology group update
The data and methodology sub-group received a presentation on an SMA screening acceptability study that is being conducted as part of the ongoing Thames Valley research programme. This study has highlighted areas that may need further work as part of the ISE, including the timing of information provided to parents and clinicians, both before and after clarification of a baby’s SMN2 copy numbers, and support for parents making treatment decisions. The ISE’s parent information and staff training task and finish group will pick up these issues.
The data and methodology sub-group also discussed what data sources and processes will need to be set up for the ISE in order to collect long-term data on health outcomes for those babies who have SMA detected by screening.
Clinical pathway group update
The clinical pathway sub-group has been having detailed discussions about the proposed clinical pathway to be used in the ISE. Areas that require clarification include:
- timelines for sample-taking, testing, and reporting of both SMN 1 deletion and SMN 2 copy numbers
- confirmatory testing arrangements
- the availability of specialists at weekends and bank holidays
- the acceptability and impact of clinical referrals of babies who are still awaiting confirmation of their SMN 2 copy numbers
The sub-group is expecting to finalise a draft clinical pathway over the coming weeks which will be available to inform the NIHR led workshop for potential researchers.
Laboratory group update and other next steps
The laboratory sub-group reported that it would be possible to aim to begin screening for SMA in the ISE in mid or late 2025 provided that the 6 labs which currently test blood spot samples for SCID by an appropriate method are used.
Screening would involve a pathway where labs rely upon the identification of a homozygous SMN1 deletion to prompt clinical referral. It also is planned that SMN2 copy number would be determined on the initial screening sample. Confirmatory tests for both SMN1 deletion and SMN2 copy number would then be arranged as part of the clinical referral process and these results would be used to guide treatment.
The laboratory and clinical groups will continue to work together to define the detail of this testing model, taking into account experience from other countries where screening for SMA is in place.
NHS England (NHSE) has started the detailed forward planning required for the implementation of the ISE. The 2025 timescales are challenging given current resource constraints, but there is high level NHSE commitment to the project.
The Sheffield Centre for Health and Related Research (ScHARR), which has been commissioned to develop the new modelling study, is aiming to hold another workshop in late autumn. It will then go out to public consultation on the new modelling study.
Keep up to date
The UK NSC blog provides up to date news from the UK National Screening Committee. You can register to receive updates direct to your inbox, so there’s no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, email screeninginformation@dhsc.gov.uk.