Transparency data

UK NSC minutes June 2023

Updated 28 December 2023

These minutes are final and confirmed as a true and accurate record of the UK National Screening Committee (UK NSC) meeting held on 15 June 2023.

This was a hybrid meeting held at the Welsh Government offices, Cathays Park, King Edward VII Avenue, Cardiff, and via Microsoft Teams.

1. Attendees

1.1 Members

• Professor Sir Mike Richards - Chair
• Dr Graham Shortland - Consultant Paediatrician, Cardiff and Vale University Health Board, Noah’s Ark Children’s Hospital for Wales (Vice-Chair)
• Professor Natalie Armstrong - Implementation Scientist
• Eleanor Cozens - Patient and Public Voice (PPV)
• Greg Fell - Public Health Expert
• Professor Chris Hyde - Public Health Specialist, University of Exeter
• Dr Bethany Shinkins - Test Expert
• Professor Anne-Marie Slowther - Reader in Clinical Ethics, Warwick Medical School, University of Warwick
• Dr Ros Given-Wilson - Chair of the Adult Reference Group (ARG)
• Dr Sharon Hillier - Chair of the Fetal, Maternal and Child Health Group (FMCH)
• Professor Sian Taylor-Phillips - Chair of the Research and Methodology Group (RMG) and Data Scientist

1.2 Observers

• Martin Allaby - Consultant in Public Health and Evidence-based Healthcare, National Institute for Health and Care Excellent (NICE) (first part of meeting)
• Rebecca Albrow - NICE
• Nicola Brink - State of Guernsey
• Lisa Douet - NICE
• Colum Durkan - Isle of Jersey
• Elizabeth Luckett - Senior Screening & Immunisation Manager NHS England South-West
• Diane Matthews - State of Guernsey
• Professor Zosia Miedzybrodzka - Clinical Lead of the Scottish Genomics Network
• Deborah Tomalin - Director of Public Health Commissioning and Operations, NHS England (NHSE)

1.3 Invitees

• Sir Frank Atherton - Chief Medical Officer (CMO), Wales

1.4 UK Health Department officials

• Jack Price - Department of Health and Social Care (DHSC)
• Dr Heather Payne - Senior Medical Officer for Maternal and Child Health, Welsh Government
• Helen Tutt - Welsh Government
• Laura McGlynn - Scottish Government
• Alexander Cruickshank - Scottish Government
• Dr Tasmin Sommerfield - National Screening Oversight (NHS Scotland)
• Dr Carol Beattie - Northern Ireland

1.5 Secretariat

• Prof Anne Mackie - Director of Programmes, UK National Screening Committee (UK NSC)
• Dr Cristina Visintin - UK NSC Principal Evidence Review Manager
• Silvia Lombardo - UK NSC Senior Evidence Review Manager
• Rebecca Dliwayo - UK NSC Evidence Review Manager
• Anne Stevenson - National Lead for Screening Feasibility, Evaluation and Development
• Jo Harcombe - National lead, informed choice, professional development and stakeholder engagement
• Mike Harris - Head of UK NSC public and professional engagement, information and knowledge
• Dr David Elliman - Clinical lead for NHS Newborn and Infant Physical Examination Programme and NHS Newborn Blood Spot Screening Programme
• Carolina Martinelli - In-service Evaluation Lead, Screening, Office for Health Improvement and Disparities (OHID)
• Zeenat Mauthoor - Secretariat Expert Committee and Policy Liaison Manager
• Fabrice Lafronte - UK NSC secretariat support officer

1.6 Apologies from members

• Professor Anneke Lucassen - Professor of Genomic Medicine, University of Oxford and Consultant Clinical Geneticist (present for first half of meeting)

1.7 Apologies from observers/ officials

• Prof Peter Bradley - Government of Jersey
• Gareth Brown - Director of Screening, NHS National Services Scotland
• Sarah Byron- Programme Director - Devices, Diagnostics and Digital, NICE
• Roberta James - Programme lead, Scottish Intercollegiate Guidelines
• Peter Jones - Welsh Government
• Meng Khaw - Public Health Director, Public Health Wales
• John Marshall - Evidence lead
• Dr Tracy Owen - Consultant in Public Health, Public Health Agency Northern Ireland
• Professor Steve Powis - National Clinical Director for NHSE
• Evette Wade - Republic of Ireland
• Clare Walker - Isle of Man

2. Welcome and apologies

The chair, Prof Sir Mike Richards, welcomed all to the meeting and a round of introductions was carried out for those attending in person. A warm welcome was extended to colleagues who dialled in and to the Welsh CMO Sir Frank Atherton, who joined the meeting briefly in person. Sir Frank welcomed all to Wales and was pleased to be hosting the UK NSC in Cardiff.

The chair reminded attendees of the confidential nature of the discussions, presentations and papers prepared for the meeting and reiterated that these should not be communicated outside the meeting until their publication on the UK NSC website.

The meeting was attended by 11 members and was therefore quorate.

The committee noted committee member Anneke Lucassen’s apologies alongside those listed from officials and the observers list. Deputies were in attendance.

3. Call for any new declarations of interests

Members were asked to provide an update on any new declarations of interest which may be relevant to this meeting. No new interests were raised.

4. Minutes of the last meeting

The committee approved the minutes from the 10 March 2023 meeting as a true and accurate record of the meeting.

Two actions were identified from the March 2023 meeting and were noted as being in hand and completed:

• March 2023 - Secretariat to speak to Nimisha De Souza (DHSC) regarding including data from the screening policy inbox in the analytics update - In hand
• March 2023 - Secretariat to get in touch with Deborah Tomalin offline to discuss possible collaboration with NHSE screening helpdesk over analytics data to include in future reports - completed. The UK NSC noted that the NHSE screening helpdesk is being decommissioned.

Ongoing open actions were noted as follows:

• June 2022 - UK NSC to look into agreeing cost effectiveness thresholds and guidance as part of wider work to develop the new committee processes - in hand
• November 2022 - Secretariat to add Recommendation 4 on establishing a closer working relationship with NICE and the Scottish Intercollegiate Guidelines Network (SIGN) to the UK NSC March 2023 agenda - in hand
• November 2022 - Paper on feasibility addressing CMOs’ recommendation 5 to be brought to the UK NSC meeting in March 2023 - in hand
• November 2022 - Report on international consensus on informed choice to be brought to a future UK NSC meeting once work has been completed - in hand

5. Matters arising - Director’s update

A verbal update was provided by Prof Anne Mackie for the following items.

5.1 Recruitment and procurement update

It was reported that the recruitment and procurement pauses were to be lifted. The secretariat will look to develop a recovery plan to be approved by the CMOs to help manage existing and incoming work that is due.

The UK NSC will move to advertising vacant posts when possible but is mindful that this process could take some time, so time needs to be factored in for the training of incoming staff.

Action 1: UK NSC secretariat to develop recovery plan.

5.2 AgeX trial

The AgeX trial, to assess the risks of offering an additional screening and benefits for women slightly younger than 50 and, separately, for women slightly older than 70, is expected to publish its findings in 2026.

5.3 DHSC on cervical screening interval change

There is no significant update on this item. DHSC and NHSE continue to develop an implementation plan for ministers in England to consider.

5.4 Targeted lung cancer screening update

In England, ongoing efforts are under way to plan how a screening programme would be offered, building on the NHSE Targeted Lung Health Check (TLHC) programme. The OHID screening team is actively communicating information on developments with the 4 nations. An external quality assurance model has been commissioned and findings of the model will be reported back to the lung task group and on to the ARG in due course.

Post meeting note: On Monday 26 June, Prime Minister Rishi Sunak announced the roll-out of a national targeted lung cancer screening programme.

In Scotland, the work to plan and implement a targeted lung cancer screening programme is currently in its scoping stages.

In Wales, a pilot programme has been implemented in a very small area. Wider roll-out will need to be carefully monitored, particularly on uptake.

The last Northern Ireland Health Minister accepted the UK NSC’s recommendation in line with the Northern Ireland Cancer Strategy (2022-32). Officials in Northern Ireland are in the early stages of scoping out what the requirements of this new programme will be and are working with relevant colleagues in the Northern Ireland Health and Social Care system to establish the resources required and likely timeline.

All nations expressed their appreciation for all documents shared by England, while emphasising their interest in wanting to incorporate smoking cessation as a component of the targeted lung cancer screening programme.

5.5 Tyrosinaemia update

At its November 2022 UK NSC meeting, the committee made a positive recommendation to introduce a newborn screening programme for tyrosinaemia type 1 (TYR1). A task group chaired by a leading expert in inherited metabolic diseases in newborns has been set up to start work on the implementation of this recommendation. Two sub-groups have been formed to explore pathways for laboratory services and clinical care services.

6. UK NSC website and blog analytics

Mike Harris provided a verbal update on the number of users engaging with the UK NSC website, recommendations web app and blog. His presentation focused on illustrating the volume and trends in the level of public engagement with the UK NSC’s online presence, which will help identify future areas of development. The committee noted a steady increase in engagement with the UK NSC and a gradual rise in the number of UK NSC blog subscribers.

All engagements with the UK NSC were predominantly linked to active UK NSC work, such as open consultations and recommendations. An outlier was a high number of visitors to the UK NSC’s postnatal depression page. It was queried if this was due to midwives visiting this page on visits or if other factors might have triggered this. The committee asked Heather Payne to raise this with the national collaborative programme MBRRACE-UK

Action 2: Heather Payne to enquire with MBRRACE-UK if potential queries relating to postnatal depression may have triggered increased activity on the UK NSC webpage for this condition.

7. UK NSC Annual Report 1 April 2022 to 31 March 2023

Jo Harcombe, the National lead for Informed choice, professional development and stakeholder engagement, presented the UK NSC with an overview of the secretariat’s plans for publication of the 2022 to 2023 annual report. The report will cover topics such as the expansion of the UK NSC’s remit, recommendations made during the year and stakeholder engagement activities.

The committee was happy with the proposed plan and asked for a timeline for the publication to be shared with the 4 nations and NHSE.

Action 3: Timeline for the publication and review of the UK NSC’s 2022 to 2023 annual report to be shared with UK NSC Chair, 4 nations representatives and NHSE.

8. Screening for vasa praevia

Cristina Visintin, Principal Evidence Review Manager, presented this item.

Detailed information is provided in the coversheet and should be read in conjunction with the evidence map.

The UK NSC does not currently recommend screening for vasa praevia (VP) in pregnancy in the UK. The Committee based this recommendation on the evidence provided by the 2017 UK NSC review carried out by Costello Medical.

The review found no UK evidence on the epidemiology of VP. However, it found a positive association with velamentous cord insertion (VCI), bilobed or succenturiate (B L/S) placenta, low-lying placenta (LLP) and with in vitro fertilisation (IVF), but overall there was insufficient evidence to support the role of these in screening of VP. The review also concluded that there was uncertainty about the accuracy of screening, and that evidence in this area was insufficient to recommend screening

Following the conclusions of the 2017 evidence summary, the UK NSC commissioned an exploratory modelling study to estimate the effects of second trimester ultrasound-based antenatal detection strategies for VP in a hypothetical cohort of pregnant women as outlined in the coversheet. The model results suggested that a targeted LLP-based approach could detect a substantial proportion of VP cases, while avoiding over detection of VCI and requiring minimal changes to current clinical practices. The exploratory study using decision analytic modelling methods was published in December 2022.

As part of the UK NSC evidence review update in 2022 an evidence map was commissioned on screening for VP in pregnancy that was performed by Costello Medical. The evidence map looked to address the following questions:

1. Is there any UK-based epidemiological data on the prevalence of VP or its outcomes?
2. Are there any prospective studies reporting the accuracy of transabdominal ultrasound in the second trimester in the UK?

The committee reviewed the available evidence on VP and found there was only one retrospective study identified for each question examined. This indicated that the overall evidence base for VP is still very limited.

The public consultation for this topic closed on 3 June and received a total of 10 comments, with 2 late submissions following permission to submit late. It was reported to the committee that the consultation had received nearly 500 views with 61 views on the ‘submit page’. Due to the timing of when the consultation closed, the evidence map and consultation comments were brought directly to the UK NSC to consider.

The committee acknowledged and expressed its gratitude to all commentators, especially members of the public who had shared tragic and personal stories as part of the consultation. The UK NSC noted that most responses received, from members of the public, were in favour of introducing screening for VP. Responses from 2 royal colleges, however, acknowledged the lack of evidence available on which to be able to introduce a screening programme and suggested that further research should be undertaken in the UK. The stakeholders also suggested that 4 extra papers should be included in the evidence map. These were examined by the reviewers against the evidence map inclusion criteria and they concluded that such studies did not meet such criteria: 2 were published outside the UK NSC’s search dates and 2 fell outside the scope of the evidence map.

The committee felt that although the findings of the evidence map indicate that, at present, there is insufficient evidence to justify further work on screening for VP, making a negative recommendation would not be appropriate because the UK NSC can now propose research and take a view about targeting screening programmes. The committee asked that the evidence map and consultation comments on VP be referred to its expert FMCH group for further consideration. The UK NSC would then review this recommendation along with suggestions for areas of research.

Action 4: Evidence map and consultation comments on vasa praevia to be referred to FMCH to consider further and explore what more research is needed to help progress this as a possible targeted screening programme.

Action 5: Heather Payne to raise VP with MBRRACE to gather data and share with FMCH/RMG to gain a better understanding of current clinical practise in order to consider areas for research.

Action 6: Screening for VP be added to a future UK NSC agenda (possibly November 2023)

9. Screening for neonatal diabetes (2021 annual call submission)

This item was presented by Rebecca Dliwayo, evidence review manager.

The proposal to screen for neonatal diabetes (NDM) was submitted to the UK NSC during the 2021 annual call for topics. The proposal suggested that screening for NDM could be offered using dried blood spots collected on day 5 of life as part of the existing UK newborn blood spot screening programme.

NDM is a rare and severe form of diabetes, often caused by a mutation in a single gene affecting the development and function of pancreatic beta cells and the secretion of insulin. It is defined by the onset of persistent hyperglycaemia (high blood sugar) by 6 months of age but may present in patients up to 12 months old.

An expert evaluation group made up of members of the UK NSC, its expert feeder groups, the devolved governments and other experts met in January 2022 and agreed that the topic fell within the remit of the UK NSC. This led to an evidence map being commissioned in 2023. This was undertaken by the Solutions for Public Health, NHS Arden and Greater East Midlands Commissioning Support Unit.

The following questions were addressed:

1. Are there any national or international guidelines or recommendations on population screening for NDM?
2. What is the accuracy of available screening tests using dried blood spots to detect NDM?
3. Does early initiation of treatment following screening, or at a pre-symptomatic stage, provide better outcomes for NDM compared to initiation of treatment following clinical detection or at a symptomatic stage?

The evidence map concluded that the volume and type of evidence related to screening for NDM is currently insufficient to justify an evidence summary and no further work on screening for NDM should be commissioned at the present time.

This is because:

• the 2 guidelines included in the evidence map concern the diagnosis, management and recommendations for the genetic testing care of newborns and infants with NDM. There are no recommendations specifically on whole population screening to detect NDM in newborns and/or infants
• only one retrospective case-control study met the inclusion criteria, and this was conducted by the submitter’s research team. The paucity of research investigating this question demonstrates that commissioning an evidence summary at this stage cannot be justified due to limitations in the volume and type of studies available
• 2 studies were selected for inclusion for this question because they were reported in a way that specified outcomes for patients who were diagnosed with NDM and had treatment initiated at an early age. However, it is not clear if any of the patients in the studies identified were detected through screening or had treatment initiated at a pre-symptomatic stage. Therefore, no studies directly addressed the question of whether the early initiation of treatment following screening or at a pre-symptomatic stage provides better outcomes for NDM compared to the initiation of treatment following clinical detection or at a symptomatic stage

The committee noted that the evidence map was shared with FMCH, which supported the conclusions drawn. The UK NSC stated that although it supported the recommendation not to introduce population screening for NDM in newborns, it was aware of 2 large active studies on NDM that could potentially change this position.

The chair stated that the committee would encourage the researchers of the studies to publish their findings when ready and to submit a new proposal for NDM during a future UK NSC annual call for topics.

Action 7: Coversheet and evidence map on neonatal diabetes to include a line that signals the UK NSC’s acknowledgement of the 2 studies ongoing in NDM.

Action 8: UK NSC secretariat to write back to the 2021 submitter of neonatal diabetes and share the outcome and evidence map for their information.

10. Screening for Craniosynostosis (2021 annual call submission)

This item was presented by Rebecca Dliwayo, evidence review manager.

Craniosynostosis is a malformation of a baby’s skull, prior to birth, in which one or more of the sutures, the fibrous tissue between the bones of the skull, fuse together, before the brain is fully formed.

The proposal to screen for craniosynostosis was submitted to the UK NSC during the 2021 annual call for topics. The proposal suggested that the Newborn and Infant Physical Examination (NIPE) population screening programme should be expanded to include the examination of infants’ head shape and measurements to detect craniosynostosis.

The UK NSC’s expert evaluation group met in January 2022 and agreed that the topic fell within the remit of the UK NSC and an evidence map was commissioned in 2023. This was undertaken by the Solutions for Public Health, NHS Arden and Greater East Midlands Commissioning Support Unit.

The following questions were addressed:

1. Are there any international guidelines or recommendations on newborn and infant population screening for craniosynostosis?
2. What is the accuracy of available screening tests to detect craniosynostosis in newborns and infants?

The evidence map concluded that the volume and type of evidence related to screening for craniosynostosis is currently insufficient to justify an evidence summary and therefore no further work on screening for craniosynostosis should be commissioned at this present time.

This is because:

• the 2 guidelines included in the evidence map concern the diagnosis, treatment and care of newborns and infants with craniosynostosis. No guidelines or recommendations about whole population screening for craniosynostosis were found
• the 2 included studies about accuracy of screening tests were centred on utilising a screening test to distinguish between deformational plagiocephaly and craniosynostosis in order to determine the appropriate referral destination for children who had already been determined to have abnormal head shapes

The evidence map had been shared with FMCH members who were content with the findings. The FMCH group had also made enquiries via its midwife member to the Royal College of Midwives (RCM) regarding craniosynostosis and its examination of newborn iLearn modules. FMCH was informed that although the RCM does not refer to craniosynostosis directly, it does advocate thorough examination of the head, including normal suture and fontanelle observation as essential, and promotes recognition of deviation from the norm and prompt referral.

Based on the findings of the evidence map, the UK NSC approved the recommendation that no further work on newborn screening for craniosynostosis should be commissioned as the volume and type of evidence related to screening is currently insufficient. Since newborn screening for craniosynostosis has not been previously reviewed by the UK NSC, future consideration of this topic would need to be submitted through the annual call for new screening topics when more substantial evidence relating to test accuracy has been published.

Action 9: Edit to the evidence map document on craniosynostosis page 6 to state that ‘there is clinical guidance/ standards on NIPE’ (rather than current wording that there is not).

Action 10: UK NSC secretariat to write back to the 2021 submitter of craniosynostosis and share the outcome and evidence map for their information.

11. In-service evaluation work (cervical screening)

The committee received a confidential presentation on an in-service evaluation (ISE) from Carolina Martinelli that discussed work following the UK NSC’s 2019 call for more evidence into the use of self-sampling (SS) in cervical screening. A blog article was published in 2020 and the UK NSC stated that it was keen to review the findings of the YouScreen study once published.

Post meeting note: the UK NSC published a blog article on 21 June 2023: HPValidate cervical screening self-sampling study nears completion.

Action 11: UK NSC secretariat to share slides from the confidential presentation and paper on ISE HPV SS with committee members to help further with the understanding of the ISE work.

Action 12: UK NSC to discuss each component of the role/offer of ISE at a future meeting to understand the purpose of each one. ISE to be added to a future UK NSC agenda.

12. Blood Spot Task Group update

David Elliman provided the committee with a verbal update on the Blood Spot Task Group (BSTG) project, which has been progressing well. Information can be found on the BSTG webpage which includes summary notes from each meeting and the group’s terms of reference.

13. Fetal, Maternal and Child Health minutes

Sharon Hillier, FMCH Chair and UK NSC member, provided a verbal update on various workstreams, not tabled at the UK NSC meeting, that the group had discussed at its meeting in April.

13.1 Severe combined immunodeficiency (SCID)

The group supported the proposal to extend the ISE of screening for SCID in English NHS services for an additional 6 months, ending in March 2024. The committee noted this and was aware that a blog article had since been published to announce this change: Evaluation of NHS newborn screening for SCID extended to March 2024.

13.2 Spinal muscular atrophy (SMA)

Scottish representatives and observer Prof Zosia Miedzybrodzka informed the committee that Scotland is considering a study to screen for SMA. It was agreed that this posed no conflict to the discussion.

The FMCH chair provided the committee with a recap of the chronological developments of SMA to date. The UK NSC made a recommendation in 2018 not to introduce newborn screening for SMA. Since that recommendation, there have been significant developments on treatment of SMA, including the approval by NICE and SIGN of several drugs to treat SMA in the newborn. In July 2021, the UK NSC held a stakeholder workshop where stakeholders were given the opportunity to contribute to the UK NSC’s approach to examining the evidence for SMA given the evolving landscape. Following this, scoping work for a decision analytic model and cost effectiveness evaluation of newborn screening for SMA was commissioned by the UK NSC in 2022 and was awarded to the School of Health and Related Research (ScHARR) at the University of Sheffield. A blog article was published in November 2022: Work starts on reviewing the case for screening for SMA.

Following the evidence products developed to address objectives 1 and 2, a proposal to develop a new comprehensive and flexible cost effectiveness modelling study for the UK screening context has been proposed, to assess the uncertainties and unanswered questions from the 2 objectives. The proposal was discussed and supported by a select expert group and was also presented to the FMCH group. Members of both groups considered that the Novartis screening model, combined with the recent NICE decision to recommend Zolgensma® for use in presymptomatic SMA, and the outcomes of the other models summarised in the confidential ScHARR report, provide reasonable grounds for more formally exploring a UK newborn screening programme for SMA. However, both groups emphasised the need to explore this in more detail and agreed that a new model could facilitate this.

The chair stated that the proposal brought to the UK NSC is to approve that a new model be commissioned and that work to start scoping ISE work should simultaneously be explored in order to help answer questions in a timely fashion.

Members of the UK NSC supported the need to have a new independent model and were happy to agree to this. The committee also supported the call to start planning for ISE work for SMA but emphasised that this was not a recommendation to introduce screening. Rather, it was a pragmatic and innovative way in which the new model could help define key issues for the ISE and the ISE could then be used to collect data to feed into the model and test its assumptions. The UK NSC stated that the findings of the ISE would then inform the evidence on which a UK NSC recommendation on newborn screening for SMA will be made.

14. Adult Reference Group update

Dr Given-Wilson provided a confidential verbal update on developments following the ARG meeting on 11 May 2023. There was a confidential presentation at ARG, with UK NSC support, on the use of digital pathology in existing cancer screening programmes.

The commissioning document for work on multi-cancer early detection tests (MCEDs) has been developed and is ready to move to tender when possible.

15. Research and Methodology update (RMG)

Prof Sian Taylor-Phillips provided a verbal update on the confidential work that the RMG is involved in. The committee was also informed that guidance on how to request advice from RMG on screening research proposals would be published soon.

Post meeting note: UK NSC RMG: submitting research requests was published on 22 June.

16. Any other business

The vice chair informed the committee that the All Party Parliamentary Group (APPG) on muscular dystrophy into newborn screening for rare conditions had published a report and had cited the UK NSC. The group had also written to the UK NSC and a response had been issued.

The next UK NSC meeting will be held on Friday 10 November 2023.

17. Chair’s action on newborn screening for MLD and screening for anorectal malformations

17.1 Newborn screening for MLD (2021 annual call submission)

Initial status

The UK NSC received the proposal for newborn screening for metachromatic leukodystrophy (MLD) as part of the 2021 annual call for topics.

The annual call evaluation group, the FMCH and the UK NSC agreed that the topic fell within the remit of the UK NSC and that an evidence map should be commissioned. This work was undertaken by Costello Medical and looked at 3 key questions:

1. What is the volume and type of evidence on the accuracy of newborn screening strategies for MLD using dried blood spots?
2. What is the volume and type of evidence available on the benefits and/or harms of interventions in presymptomatic/asymptomatic children with MLD identified through screening? In other words, does early initiation of treatment following screening provide better outcomes for MLD compared with initiation of treatment following clinical detection?
3. What is the volume and type of evidence on the cost-effectiveness of treatment or screening for MLD in asymptomatic or symptomatic patients?

Reason for chair’s action

The evidence map for MLD was completed in June 2023 and shared with FMCH members electronically for consideration. The evidence map was not ready to be tabled at the June UK NSC meeting. However, as the findings of the evidence map were promising and recommended further work, chair’s action was sought to prevent delay to this work.

The volume and type of evidence related specifically to the accuracy of a newborn 2-tier screening strategy for MLD using DBS was noted as being limited though promising. Further work to evaluate all available screening strategies is therefore justified.

The volume and type of evidence related to the benefits and/or harms of treatments in presymptomatic patients with MLD is sufficient to justify a more in-depth review of the evidence.

Finally, the volume and type of evidence on the cost-effectiveness of treatment or screening for MLD is currently limited and confined to conference abstracts. However, given the recent reimbursement decision on Libmeldy in the UK by NICE, it is expected that the timeframe for publication of new evidence will be short. As such, further work on the question of cost-effectiveness is also justified.

Decision

Both FMCH and the UK NSC noted that screening for MLD looks promising. The UK NSC and FMCH both support the evidence map findings to commission further work to consider a more in-depth review to consider introducing newborn screening for MLD as part of the newborn blood spot screening programme. The UK NSC agrees that this work should be commissioned as soon as possible in order to maintain momentum and that MLD should be added to the UK NSC’s recommendation list to be kept under regular review.

The UK NSC agrees that further work should be commissioned to consider newborn screening for MLD.

17.2 Screening for anorectal malformations (2021 annual call submission)

Initial status

The UK NSC received a proposal to add anorectal malformations (ARMs) to the newborn and infant physical examination screening programme as part of the 2021 annual call for topics.

The annual call evaluation group, FMCH and the UK NSC agreed that the topic fell within the remit of the UK NSC and an evidence map should be commissioned. The evidence map was undertaken by Costello Medical and looked a one key question:

1. What is the accuracy of available screening tests to detect ARMs in newborns and/or infants?

Reason for chair’s action

The evidence map for ARMs completed in June 2023. This was shared with FMCH members electronically for consideration. The evidence map was not ready to be tabled at the June UK NSC meeting. However, due to the duration of this review, chair’s action was sought to feed back the outcome to the submitter without further delay.

The evidence map found no suitable studies that reported a screening test used to triage consecutive or randomly selected populations of all newborns and/or infants for ARMs.

Decision

Both FMCH and the UK NSC noted the findings of the evidence map for ARMs and agreed that no further work should be commissioned at this time.

17.3 Chair’s confirmation

I confirm that I have taken chair’s action in relation to the decisions recorded above.

Signed: Prof Sir Mike Richards

Date: 13 July 2023