Transparency data

UK NSC minutes November 2021

Updated 22 June 2022

These minutes are final.

The meeting was held online from 9:30am to 2pm on 4 November 2021.

1. Attendees

1.1 Members

• Professor Bob Steele – Chair
• Claire Bailey – Lead Clinical Nurse Specialist in breast screening, SW London
• Prof Roger Brownsword – School of Law, King’s College London (KCL)
• Prof Louise Bryant – Associate Prof in Medical Psychology, University of Leeds
• Eleanor Cozens – patient and public voice (PPV)
• Prof Gareth Evans – Consultant in Genetics Medicine, St Mary’s Hospital, Manchester
• Jane Fisher – PPV
• Hilary Goodman – Midwife, Hampshire Hospitals NHS Foundation
• Prof Alastair Gray – Director at the Health Economics Research Centre, Nuffield Department of Population Health and Prof of Health Economics at the University of Oxford
• Prof Chris Hyde – Public Health Specialist, University of Exeter
• Dr Jim McMorran – GP, Coventry
• Margaret Ann Powell – PPV
• Dr Anne-Marier Slowther – Reader in Ethics, University of Warwick
• Dr Graham Shortland – Consultant Paediatrician, Cardiff and Vale University Health Board, Noah’s Ark Children’s Hospital for Wales (Vice-Chair)

1.2 Observers

• Daniel Gascoigne – Department of Health and Social Care (DHSC)
• Nimisha De Souza – DHSC
• Dr Heather Payne – Senior Medical Officer for Maternal and Child Health, Welsh Government
• Laura McGlynn – Scottish Government
• Tasmin Sommerfield – National Screening Oversight (NHS Scotland)
• Dr Carol Beattie – Northern Ireland
• Prof Niall O’Higgins – Chair of the National Screening Advisory Committee, Ireland
• Evette Wade – Republic of Ireland
• Kate O’Flaherty – Republic of Ireland
• Deborah Tomalin – Director of Public Health Commissioning and Operations, NHS England

1.3 Invitees

• Mariejka Beauregard – Screening Fellowship
• Dr David Elliman – Clinical lead for NHS Newborn and Infant Physical Examination Programme and NHS Newborn Blood Spot Screening Programme
• Dr Ros Given-Wilson – Chair of the Adult Reference Group (ARG)
• Dr Sharon Hillier – Chair of the Fetal Maternal and Child Health Group (FMCH)
• Gila Sacks – Director Prevention Services, Office for Health Improvement and Disparities (OHID)

1.4 Presenters

• Prof Sian Taylor-Philips – Professor of Screening and Test Evaluation

1.5 Secretariat

• Prof Anne Mackie – Director of Programmes, UK NSC
• John Marshall – UK NSC Evidence Lead
• Dr Farah Seedat – UK NSC Evidence Review Manager
• Dr Cristina Visintin – UK NSC Evidence Review Manager
• Silvia Lombardo – UK NSC Evidence Review Manager
• Julia Bowen – UK NSC Evidence Review Manager
• Zeenat Mauthoor – Secretariat Expert Committee and Policy Liaison Manager
• Paula Coles, Senior Information Scientist
• Rebecca Matthews, Information Specialist
• Fabrice Lafronte – UK NSC Secretariat officer
• Jo Harcombe – OHID Screening national lead for informed choice, information and workforce

1.6 Apologies from members

• Dr Paul Cross – Consultant Cellular Pathologist, Queen Elizabeth Hospital Gateshead Health NHS Foundation Trust
• Prof Stephen Duffy – Director of the Policy Research Unit in Cancer Awareness, Screening and Early Diagnosis and Prof of Cancer Screening, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine

2. Welcome and introductions

The chair, Prof Steele, welcomed all to the meeting.

The chair reminded attendees of the confidential nature of the discussions, presentations and papers for the meeting and that recommendations made should not be communicated outside of this meeting until these had been shared with the minister.

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

Apologies were noted from 2 members. The chair confirmed that the meeting was quorate with 13 members in attendance.

The chair informed the committee that Paul Cross would be stepping down from his role as a cytopathologist on the UK NSC following this meeting. The chair expressed his gratitude to Dr Cross for his invaluable input over the last few years and a valedictory letter would be issued. The chair also notified the committee that Nick Johnstone-Waddell, who was the UK NSC content design lead, had sadly left screening after over 20 years of service.

Action 1: A valedictory letter to be issued to Dr Paul Cross for his service to the committee.

3. Minutes of the last meeting

The committee approved the minutes from the 25 June 2021 meeting as a true and accurate record of the meeting.

Seventeen action points were identified from the June meeting. All actions were in hand, completed or superseded. Actions were for:

• UK NSC secretariat to add Gareth’s potential conflict of interest (COI) to the register – completed
• UK NSC secretariat to send a valedictory letter to Dr John Holden – completed
• UK NSC secretariat to inform the committee of upcoming recruitment campaign – completed
• routine process to be undertaken to make the ethics discussion a standard item for future UK NSC meeting – ongoing
• David Elliman to send amendments on the draft UK NSC values and the principles document to Catherine Joynson and Nick Johnstone-Waddell for consideration – completed
• committee to adopt the ethical principles and framework – ongoing
• committee members were asked to comment on the content of the ethics report and the draft response to NHS England on family cascade screening for familial hypercholesterolemia (FH) – completed
• UK NSC to send a response letter to NHSEI on the child-family cascade screening for FH – completed
• report on stakeholder engagement to be published on GOV.UK after checking resource documents availability (post meeting note: this report has now been published)
• further work to be carried out on the action plan for the stakeholder engagement review before being published and communicated to a wider audience – ongoing
• UK NSC members invited to register their interest to attend the whole genome sequencing (WGS) workshop on 8 July – completed
• committee members to send any feedback on the new UK NSC web app to Nick Johnstone-Waddell – completed
• evidence team to amend wording in the evidence review products on artificial intelligence (AI) in Diabetic Eye Screening (DES) Programme wording so that ‘replace level 1’ is amended to ‘could be used as level 1’ – in hand
• UK NSC to be sent the post consultation document of AI in DES following amendments – completed.
• secretariat to add gestational diabetes in pregnancy to its internal list of potential targeted screening candidates – completed
• secretariat to send a valedictory letter to Dr Hicks – superseded
• secretariat to contact National Institute for Health Research (NIHR) about a replacement observer on the committee and how it could better strengthen relationships – superseded

4. Matters arising – director’s update

Prof Mackie introduced the committee to the UK NSC’s host’s Director, Gila Sacks.

4.1 UK NSC secretariat host: Department of Health Social Care (DHSC) Office for Health Improvement and Disparities (OHID)

Gila Sacks, Director of Prevention Services at OHID, welcomed the UK NSC Secretariat team to DHSC.

From 1 October 2021, the Secretariat team supporting the UK NSC had transitioned to the OHID.

It was explained to the committee how the transfer of the hosting function for the secretariat into at DHSC was seen as an exciting opportunity. This view was shared by the English chief medical officer (CMO), who will look to see more joined-up working between the Secretary of State, CMOs and the UK NSC to deliver screening recommendations more effectively across the UK and therefore welcomed this move.

The committee was informed that following the formal closure of Public Health England (PHE) at the end of September, the PHE and NHS test and trace functions were now in 4 locations. The health protection responsibilities have moved to the new UK Health Security Agency (UKHSA). Functions to improve the nation’s health and tackle health inequalities, together with several public health functions, have moved to OHID and the wider DHSC. A range of delivery and digital functions have moved to NHS England and NHS Improvement (NHSEI).

It was made to clear to the UK NSC how DHSC recognised the committee’s independence, credibility, and the authority of the advice it provided to the governments across the UK and that this would be preserved.

4.2 Ministerial announcement of the new screening advisory body

The terms of reference and remit of the new screening advisory committee was with ministers to sign off. Post meeting note: this was signed off in November.

4.3 National evaluative roll out of non-invasive prenatal testing (NIPT) in the fetal anomaly screening programme

The evaluative roll out of NIPT went live on 1 June in England. This is a contingent test to be offered to women who receive a higher chance result from the NHS pathway for combined or quadruple screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. A higher chance result is between 1 in 2 and 1 in 150. A lower chance result is a chance of 1 in 151 or above.

There are now eligible women choosing NIPT, but the numbers are still small. An update report on the evaluation will be circulated to the UK NSC in due course.

4.4 National evaluative roll out of severe combined immunodeficiency (SCID) in the newborn blood spot programme

On 6 September 2021 an evaluation of newborn blood spot screening for SCID in England was launched following the changes to the NHS neonatal Bacillus Calmette-Guérin (BCG) immunisation programme.

The evaluation will determine if screening for SCID will work as well in England as it has in other countries, with different populations and healthcare systems, and whether it is cost effective.

The evaluation will initially run for 2 years and screening will continue for a third year while the results from the evaluation are analysed.

The UK NSC will then make a definitive recommendation about whether newborn screening for SCID should become part of the NHS Newborn Blood Spot (NBS) Screening Programme in England. Prof Mackie expressed her gratitude to NHSEI and colleagues on the call for their hard work in making the changes to the programme and offering SCID.

4.5 Human papillomavirus (HPV) self-sampling

Several workstreams in cervical screening were being progressed before coming to the UK NSC.

Prof Mackie informed the UK NSC that a research study carried out by KCL aimed to see whether offering self-sampling to women who had not attended screening would be an acceptable option and increase uptake. The study is also looking at how this would work in the programme’s pathway. Huge thanks were extended to NHSEI colleagues in IT and commissioning who had worked to bring this together. KCL has more information about the YouScreen study.

5. UK NSC website and digital service

Jo Harcombe provided a verbal update on the UK NSC website.

The new website went live on 17 May. It was developed in line with other government department websites while providing a more UK-wide focus.

The new home page hosts information about the committee, such as UK NSC blog articles, current consultations and information about screening in all 4 UK countries.

A report of the website’s data analytics was shared with the committee. This included the home page and engagement on consultations although it was pointed out this was an estimate because it excludes users who do not accept cookies. Around 70% of visitors were from within the UK. The remaining 30% were mainly from the USA followed by Ireland, India, and Australia, clearly illustrating the international reach of the UK NSC.

At the time of this meeting, the website had nearly 400 subscribers to its blog. Between May and November 2021, the UK NSC had published 11 new blog articles with more soon to follow.

Following the transition the PHE Screening twitter account was closed. The UK NSC secretariat will be looking to see what social media platforms and other outlets can be used to continue its engagement with stakeholders and members of the public.

6. UK NSC annual call – the role of the evaluation group

This item was tabled by the UK NSC secretariat which sought agreement of the role of the UK NSC’s evaluation group.

Every year, the UK NSC welcomes proposals to consider new topics for screening. Both the UK NSC and the secretariat recognise and appreciate the time and effort taken by members of the public and stakeholders to engage with this process. It is important that the UK NSC responds in a timely manner and keeps submitters updated with developments on their proposals.

The 2021 annual call for new topics opened on 6 September and is due to close on 6 December. To ensure proposals are assessed and commissioned swiftly, the evaluation group, with expert and UK-wide representation, were asked to make recommendations on proposals and next steps when they convene in January. The recommendations made by the evaluation group will then be shared with the relevant reference group for verification so next steps could then be actioned. The UK NSC will then be informed of the submissions at its meeting in March. It was agreed and noted that should there be a difference in opinion on how a proposal should be managed then this would be escalated to the UK NSC to make a decision.

7. Adult reference group (ARG) report

Dr Given-Wilson presented a report from the ARG which provided the committee with a summary of developments following the ARG meeting held on 15 September 2021. An update was also provided on the work from the AI task group. The committee was informed that a public consultation on screening for thyroid disease was open and would be closing on 14 January 2022.

8. AI in breast screening

The chair welcomed Prof Sian Taylor-Philips to this meeting. Prof Taylor-Phillips had been invited to present this to the committee as she was part of the external review team which had developed this.

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

The committee was advised that this review aimed to explore the state of the evidence on the use of AI to read mammograms in the breast screening programme instead of making a final recommendation on it. It provides a baseline for future reviews on proposals on this topic.

Breast cancer is the most common cancer in women in the UK. The breast screening programme offers digital mammography as the primary screen for this programme. The use of AI to read mammograms in breast screening has the potential to overall improve or worsen the current breast screening programme.

The use of AI for mammographic image analysis in breast screening had not previously been reviewed by the UK NSC. The 2 important questions raised focused on the accuracy of the test and the clinical impact of using AI algorithms in the breast screening programme when compared to clinical practice.

The review identified 3 enriched laboratory and 4 retrospective studies. However, there was not enough evidence in terms of quantity or quality to justify the recommendation to introduce AI in the breast screening programme.

There were no studies which described the accuracy of AI integrated into any breast screening pathway and there were no prospective studies of test accuracy in clinical practice in the UK. The latter issue was problematic because of limitations in retrospective studies, and the inability to assess how the AI affects radiologist behaviour in practice. In addition, the studies did not report on the type of breast cancer, which is an important outcome that should be reported on.

The review found that there was very little evidence on the clinical impact of the algorithms, although many simulation studies were identified.

A 3-month consultation was hosted on the UK NSC website, 58 stakeholders were contacted directly via email and 8 responses submitted. Two stakeholders agreed with the conclusions of the UK NSC review and the remaining stakeholders did not provide a direct statement. Stakeholders agreed with most of the methodological considerations covered in the evidence summary and noted that they can be used as a baseline.

Prof Taylor-Philips advised the committee of the 2 important themes which arose from the consultation. The first was that the UK NSC evidence summary suggested that geographical validation is the preferred method for assessing diagnostic accuracy in retrospective studies. Some stakeholders disagreed. They suggested that both types of validation (temporal and geographical) should be included in the future review as geographical validation does not completely eliminate the risk of the same women appearing in both datasets (for example, training and test sets) as people can relocate. The committee was advised that this decision was because in temporal validation it may be difficult to ensure that the same women are not being included in the training and test sets due to deidentification (when personal identifiable data is removed). Geographical validation within the same country cannot ensure that there would not be an overlap between training and test sets, but it may be lower than with temporal validation as the latter will include repeat screens.

The second theme was the confusion in the requirement of prospective studies because of the limitations in retrospective studies. Prof Taylor-Philips highlighted that it is pivotal to know how AI would impact human reader behaviour. Therefore it would be crucial that it is assessed in clinical practice. In addition, retrospective studies suffer from differential verification bias, which can be mitigated in prospective studies, even if not completely eliminated (see coversheet for detailed discussion on differential verification bias).

The chair thanked Prof Taylor-Phillips for the clear and informative presentation and asked the committee if they had any comments to make.

Dr Hillier stated that although it was not a direct conflict, Wales was in discussions to become a potential site to take part in the NHSX retrospective study on AI in breast screening. Dr Given-Wilson shared her previous experience with computer aided detection (CAD) which was introduced to mammography several decades ago based on retrospective studies which showed positive results. However, once in practice CAD was not effective. Dr Given-Wilson stressed it was essential to ensure that human and AI interaction is assessed to ensure it is effective before implementation.

Dr Given-Wilson also raised a point about the practical issues of incorporating the use of AI in the breast screening programme into the current IT systems. Lack of flexibility would be a major barrier as the current systems cannot be adapted to any innovative work. The current IT system would have to be reviewed in order to support the rapid development of the current screening programme and prospective studies to collect data to carry out any future workstreams.

Deborah Tomalin highlighted that work on setting up a digital group was being carried out. The aim is to coordinate all the IT requirements for the programme, including the research framework and the advanced collaboration with AI and NHSX.

Dr Given-Wilson and Claire Bailey stressed that robust results on the accuracy and clinical impact of AI in breast screening would be necessary as any increase in the recall rates, even where they may appear minimal, could in practice equate to extra time being needed for follow-up appointments. For example, for every patient recalled an extra hour of clinical time would need to be factored in to discuss the follow-up procedure with the patient and help them with any additional anxiety this may cause.

Prof Chris Hyde supported the need for more rigorous prospective studies and agreed that caution on the use of AI was needed following the results of the review because the current evidence base of retrospective studies has a high risk of bias. Prof Hyde advised that in his experience of test accuracy better quality prospective studies usually means lower accuracy. Therefore, there was a possibility of current results being exaggerated compared to results in real life settings.

John Marshall informed the committee that the review had been very well received in the public. The University of Warwick published the review in the BMJ and received international interest in technology magazines and on Twitter. Peer review and social media publication is an area for the UK NSC to expand more on, but this demonstrates that there is appetite for this type of review and hopefully the new screening body will be able to take this on. John also updated the committee that a companion piece of work on the evidence requirements for AI in breast screening, which was previously presented to the UK NSC, had also been submitted for peer review publication.

The committee agreed that AI in breast screening should be properly assessed before being introduced into clinical practice. The NHS and UK NSC is carrying out work with the Accelerated Access Collaborative (AAC) to take this forward.

9. Screening for alcohol misuse

Dr Cristina Visintin presented this item to the committee. Detailed information is provided in the coversheet and should be read in conjunction with the evidence map report.

Alcohol misuse is a significant cause of mortality, morbidity and social issues in the UK. Alcohol misuse is linked to several serious diseases including heart disease, stroke, liver disease and cancer. Social costs of alcohol misuse include disruption to work and family life, violence, traffic incidents and healthcare-related costs.

A systematic population screening for alcohol misuse in adults was not recommended when last reviewed in 2017 by the committee. This was because there was:

• no suitable test for population screening (the performance of questionnaire-based screening tools in the whole population appeared limited)
• no evidence that screening would be effective in reducing long-term harm to people from alcohol misuse

The aim of the 2021 evidence map was to:

• evaluate the volume and type of evidence on the long-term effectiveness of a population screening programme to improve morbidity and mortality, reduce social harm and influence behaviour change
• assess whether there was sufficient evidence published since 2017 to justify an evidence review on screening for alcohol misuse

This evidence map did not include studies reporting the identification of alcohol misuse through opportunistic testing initiated by local health systems.

No studies were identified that met the criteria for inclusion for this question. Therefore, there was insufficient new evidence in this important area to justify commissioning an evidence summary.

A 3-month consultation was hosted on the UK N S C website. Direct emails were sent to 23 stakeholders, of whom 5 responded.

Dr Visintin informed the committee that by using google analytics, it was reported that this consultation received 442 views.

Overall, stakeholders were supportive of the conclusion of the evidence map that further work would not identify sufficient evidence to change the conclusion of the 2017 recommendation on population screening for alcohol misuse. There was a comment to invite comments from Royal College of Emergency Medicine (RCEM). Dr Visintin confirmed that an invitation had been extended to RCEM but no comment was received.

Two stakeholders, although acknowledging there was a lack of evidence on the long-term effectiveness of a population screening programme, felt that the issue is of such importance that research should be commissioned to discover if such a programme might bring benefits.

The committee discussed the conclusion of the consultation and agreed that the evidence team should inform NICE about the comments received. Some committee members suggested that this discussion should include the need for a better opportunistic testing approach. The UK NSC suggested that alcohol misuse could be a possible candidate for targeted screening.

The committee agreed that based on this evidence map, the volume and type of evidence related to systematic population screening for alcohol misuse was insufficient to justify further review at this stage and should be reconsidered in 3 years’ time.

Action 2: UK NSC secretariat to contact NICE and share comments received from the consultation on alcohol misuse for further discussion.

Action 3: UK NSC secretariat to add alcohol misuse to its internal list of potential targeted screening candidates.

10. Fetal Maternal and Child health (FMCH) group report

Dr Sharon Hillier presented a report from FMCH which provided the committee with a summary of developments following the FMCH meeting held on 8 September 2021. Conditions discussed at the last FMCH meeting had been tabled for discussion at this UK NSC meeting.

The UK NSC was informed that a public consultation on biotinidase deficiency and cytomegalovirus (CMV) were open for public consultation and would close on 10 December 2021 and 17 January 2022 respectively.

11. Screening for congenital adrenal hyperplasia (CAH)

Silvia Lombardo presented this item. Detailed information is provided in the coversheet and should be read in conjunction with the evidence summary.

CAH refers to a group of genetic disorders that affect the adrenal gland. The adrenal gland produces important hormones, including cortisol, which regulates the body’s response to illness or stress.

The UK NSC last looked at the evidence to screen for CAH in 2015. It was recommended at that time that screening should not be offered because:

• there were uncertainties regarding the incidence of the condition in the UK
• screening tests using 17-hydroxyprogesterone (17-OHP) immunoassay produce a high number of false positive results, and the test performance is particularly poor in premature babies and those with low birth weight.

In addition, the evidence on the use of second-tier testing by mass spectrometry was very limited. And there was uncertainty on whether screening at day 5 might take place too late to detect patients pre-symptomatically.

The 2021 evidence summary was undertaken by the School of Health and Related Research (ScHARR). It sought to address the gaps in the evidence from the 2015 review by focusing on 3 important key questions on the incidence of the condition, the age of presentation and the accuracy of the screening tests.

The conclusion of the 2021 evidence summary was that the current recommendation should be retained and therefore whole population screening for CAH in newborns should not be introduced in the UK.

The evidence summary found that:

• the incidence rate in Great Britain (1 in 18,000), without screening, is broadly comparable with the included international studies, with screening
• despite the availability of incidence data relevant to the UK, other aspects of the condition remain unclear (the included studies provide a limited amount of evidence to indicate patterns of development and presentation of symptoms in children with CAH in their first month of life, suggesting that a number of children would present with symptoms before the results of their screening tests would be currently available in the UK, and therefore they may not benefit from screening)
• the current evidence on median age of presentation in newborns is limited in terms of volume and quality and it is therefore difficult to offer robust conclusions relating to the impact screening would have on clinical outcomes
• evidence relating to fluoroimmunoassay was at high or unclear risk of bias, evidence relating to liquid chromatography tandem mass spectrometry (LC-MS/MS) was limited in terms of study design, sample size and quality, though it showed promise for reducing the number of false positives (but not false negatives) identified by fluoroimmunoassay
• further studies (ideally conducted in a UK setting) with better methodological quality and reporting clarity could help to improve the evidence base relating to the test accuracy
• due to the limitations of the evidence, the recommendation was that newborn screening for CAH was still not recommended and that further research was needed to address the evidence gaps

This was the first UK NSC consultation which opened on the new UK NSC web app. An extension was granted due to the transition of consultation on to the new platform. The public consultation closed on 1 September 2021. The committee noted that this consultation page was viewed 510 times and that the average time spent on the page was under 2 minutes. Following the 3-month public consultation, 3 consultation comments were received by:

• British Society for Paediatric Endocrinology and Diabetes (BSPED)
• Royal College of Paediatrics and Child Health (RCPCH)
• Lesley Tetlow, UK Newborn Screening Laboratories Network (UK NSLN)

A reccurring comment was that the UK is an outlier in relation to the exclusion of CAH from the newborn screening programme and that the UK does not screen as many conditions in the blood spot programme as other countries do. The UK NSC recognises this criticism.

However, the offer of screening in the UK is different to the set-up in other countries and direct comparisons can be misleading. Not all countries appear to apply the same robust approach of conducting evidence reviews and health economic assessments before making a recommendation on newborn blood spot screening, as is standard in the UK. In addition, screening programmes in the UK are provided with a quality assurance component that enables the UK to offer an end to end service from the invitation to take part in screening, all the way to treatment. It is uncertain whether other countries have such a robust service.

Other comments included:

1. Contrary to the conclusion of the review, criterion 1 was fully met as the incidence of CAH is likely to be higher than reported in the evidence summary and common enough to justify screening.
2. A review of the day of screening and assessment of the impact of screening earlier on both current conditions and potential candidates like CAH would be advised.
3. A UK evaluation of the LC-MS/MS technology would allow to gather evidence on test accuracy and the impact screening would have on clinical outcomes.
4. It is important to consider the logistical and cost implications of implementing first and/or second-tier testing.

Detailed responses to the consultation comments made are provided in the coversheet.

Discussions with stakeholders indicated that CAH is an important topic and forthcoming work on the blood spot may provide a forum to explore this topic further. Work was currently being carried out with colleagues from the Netherlands to establish principles for the design of test accuracy studies in the cases of rare and ultra-rare condition, as it often is the case in newborn blood spot screening. The end of this exercise would be to provide helpful advice on those working in the field to improve the quality of the evidence base on which the UK NSC and other screening advisory bodies would make their recommendation.

Additional feedback was provided by Prof Jim Bonham who suggested that the evidence summary should include a separate section noting that a UK evaluative activity should be undertaken. The new section should describe the areas and nature of the work, with some indication of the power of the study that would be required. A response to Prof Bonham noted that, as they stand, the coversheet and the evidence summary were sufficiently detailed and indicate the openness of discussing CAH further. The committee agreed with the response given to Prof Bonham regarding the papers. The secretariat and Prof Bonham were involved in discussions into improving research in the blood spot programmes and the newborn genome pilot. It was therefore suggested that such an evaluation should be considered as part of those discussions.

Having reviewed the consultation comments and evidence summary, the committee did not have any further comments to add.

The UK NSC agreed that a systematic population screening programme for CAH in newborns should not be recommended in the UK at the current time.

12. Screening for Duchenne Muscular Dystrophy (DMD)

Julia Bowen presented this item to the committee. Detailed information is provided in the coversheet and should be read in conjunction with the evidence map report.

DMD is a genetic disorder in childhood that leads to the absence of, or alteration in, a protein called dystrophin. This causes chronic inflammation and muscle damage resulting in progressive muscle weakness, as well as circulation and breathing complications. Ultimately DMD leads to wheelchair dependence in adolescence and eventually death. Some people with the disorder may have no family history of it.

Newborn screening for DMD is not currently recommended because the 2016 review found that there was:

• insufficient, high quality evidence of a suitable population screening test in newborns
• lack of evidence for any additional benefit for early treatment
• lack of evidence of wider effects or benefits from screening for DMD, for example, reproductive choice

The 2021 evidence map was carried out by Costello and focussed on one central question:

1. What is the volume and type of evidence on suitable screening tests using dried blood spots to detect DMD?

The finding of the 2021 evidence map was that population screening for DMD should not be recommended. The main reason for this was a lack of evidence for a suitable screening test using dried blood spots. The evidence map did identify one study but the sample size was small and would need to be replicated in a large sample size to be able to draw robust conclusions.

The UK NSC noted that there were ongoing pilot studies in the US and China which would hopefully add to the evidence base.

A 3-month consultation was hosted on the UK N S C website. Direct emails were sent to 15 stakeholders. During the consultation period the page was viewed 237 times with an average duration of 2 minutes and 23 seconds.

In total 6 stakeholders responded. They were:

• Muscular Dystrophy UK
• The Royal College of Midwives
• The Duchenne Family Support Group
• Genetic Alliance UK
• Royal College of Paediatrics and Child Health
• Royal College of Physicians

All 6 stakeholders indicated that they were supportive of the findings of the evidence map and understood the conclusion of the review. A comment to add the NICE management access agreement (MAA) treatment of Translarna to the evidence map was put forward and had been accepted. This was listed under the treatment section of the updated evidence map. Furthermore, comments about clearer language had also been updated and incorporated into the updated evidence map.

Comments from the consultation also suggested that as new evidence was expected to be published in the future it would be beneficial that ahead of the next review implementation of screening should be discussed and ironed out to allow for a quick rollout if screening is approved. It was felt that conversations around ethics, access to testing and genetic counselling would be helpful. It was emphasised that the UK NSC has an ethical framework that could consider such ethical issues when presented. However, it would be premature to consider this earlier or think of implementation without the evidence to underpin the offer of screening.

The UK NSC agreed that a systematic population screening for Duchenne Muscular Dystrophy in newborns should not be recommended in the UK at the current time.

13. Internal workshop (closed and confidential)

The UK NSC hosted a thematic workshop ahead of the ministerial sign-off on the new screening committee’s terms of reference and remit. The aim of the workshop was to provide an opportunity for the committee to input on 2 main workstreams – feasibility and stakeholder engagement – which will be taken forward by the new committee.

14. NIHR NETSCC

The UK NSC noted the report prepared by the NIHR Evaluation, Trials and Studies Coordinating Centre (NETSCC) on research projects.

15. Any other business

The UK NSC’s recruitment campaign to appoint to vacant and outgoing members posts ended in September.

John Marshall informed the committee that work on tyrosinaemia was in hand and would be discussed with colleagues offline before a decision on the next steps were made. Post meeting note: a public consultation on screening on tyrosinaemia was now open and due to close on the 8 March 2022.

16. Next meeting

Monday, 7 March 2022.