Transparency data

UK NSC minutes June 2021

Updated 15 November 2021

These minutes are final.

The meeting was held online from 9:30am to 2pm on 25 June 2021.

1. Attendees

1.1 Members

• Professor Bob Steele – Chair
• Prof Roger Brownsword – School of Law, Kings College London
• Prof Louise Bryant – Associate Prof in Medical Psychology, University of Leeds
• Eleanor Cozens – patient and public voice (PPV)
• 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
• 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
• Claire Bailey – Lead Clinical Nurse Specialist in breast screening, SW London
• 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 – Head of Screening Policy, Department of Health and Social Care
• Nimisha De Souza – Department of Health and Social Care, Screening Policy Team, Global and Public Health Group
• Dr Heather Payne – Senior Medical Officer for Maternal and Child Health, Welsh 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
• Dr Alan Smith – Deputy CMO, Department of Health – Ireland

1.3 Invitees

• Dr David Elliman – Clinical lead for Newborn Infant Physical Examination and Newborn Blood Spot, PHE
• Catherine Joynson – Nuffield Bioethics on secondment to the UK NSC / Public Health England
• Mariejka Beauregard – Screening Fellowship
• Dr Sharon Hillier – Chair of the Fetal Maternal and Child Health Group (FMCH)
• Caroline Vass – Public Health Consultant
• Sandra Anglin – NHS England and NHS Improvement (NHSEI)
• Dominic Horne – NHSEI

1.4 Presenters

• Henrietta Hopkins – Hopkins van mills to present the public dialogue work on whole genome sequencing

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
• Goda Kijauskaite – UK NSC Evidence Review Manager
• Zeenat Mauthoor – Secretariat Expert Committee and Policy Liaison Manager
• Fabrice Lafronte – UK NSC Secretariat officer
• Nick Johnstone-Waddell – Public and professional information lead

1.6 Apologies from members

• Dr Paul Cross – Consultant Cellular Pathologist, Queen Elizabeth Hospital Gateshead Health NHS Foundation Trust
• Dr Anne-Marie Slowther – Reader in Ethics, University of Warwick

1.7 Apologies

• Dr Ros Given-Wilson – Chair of the Adult Reference Group (ARG)
• Lucjan Kaliniecki – Department of Health and Social Care, Screening Policy Team, Global and Public Health Group
• Sheila Devlin – Scottish Government

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 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. Prof Evans informed the committee of a potential conflict of interest in relation to Syantra, where he provides advice to the company about a blood test for breast cancer. It was confirmed that there was no financial interest.

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 Dr John Holden had stepped down from his role as medico-legal expert on the UK NSC. The chair expressed his gratitude to Dr Holden for his invaluable input over the last few years and a valedictory letter would be issued.

The committee was informed that a recruitment campaign would take place shortly to advertise for several vacant posts on the UK NSC.

Action 1: Secretariat to add Prof Evans’s potential conflict of interest to the register.

Action 2: Secretariat to send a valedictory letter to Dr Holden.

Action 3: Secretariat to inform the committee of upcoming recruitment campaign.

3. Minutes of the last meeting

The committee approved the minutes from the 5 March 2021 meeting as a true and accurate record of the meeting.

Eight action points were identified from the March meeting. All actions were in hand or completed. Actions were for:

• Dr Elliman to share contacts of immunisation colleagues to discuss the impact of the familial hypercholesterolemia (FH) proposal with Prof Brownsword – completed
• invitation to a show and tell event to UK NSC members about the digital project to be arranged for the end of the March – completed
• UK NSC secretariat to report the outcome of the 2020 annual call submission for Klinefelter to submitter – completed
• UK NSC secretariat to engage with hereditary haemochromatosis’ stakeholders to take forward discussion on research and clarify UK NSC processes – in hand
• UK NSC secretariat to feed back outcome of the programme modification proposal in fetal anomaly screening programme (FASP) to the submitter and work with Down’s syndrome screening quality assurance support service (DQASS) on the modelling of test accuracy. Once this work has concluded the proposal will return to the UK NSC – ongoing
• the outcome of the 2019 annual call for topic on fetal presentation should be fed back to the submitter – completed
• fetal presentation to be added to the UK NSC regular list of conditions – completed
• Dr Shortland to verify lines on reproductive choice to be added in the final coversheet – completed

4. Matters arising – director’s update

Prof Mackie gave a verbal update on the following:

4.1 UK NSC future host

The UK NSC secretariat, which includes the evidence team, will be hosted by the Department of Health and Social Care (DHSC) (post meeting note: this will be in the new Office for Health Improvement and Disparities).

The independence of the UK NSC was well recognised and respected, and it was acknowledged by the health departments that this would be upheld and would not change the working of the committee. Public Health England will formally cease to exist from the end of September.

4.2 CMO single body advisory committee

The task and finish group led by the chief medical officer (CMO) to create a new advisory group in response to the Independent Review of Adult Screening Programmes in England (2019) met for the final time in March. The remit of this group and the terms of reference had been drafted and a confidential first draft had been shared with some colleagues.

It was expected that once additional input had been received, this would then be shared with Prof Chris Whitty and the other CMOs to comment on before sharing it wider and before sign-off by ministers. DHSC colleagues said that a project board would then be created to take forward the recommendations outlined.

The chair asked DHSC if there was a timeline for when work would start and a provisional date of spring 2022 was provided.

4.3 Update on lung cancer

Initial work looking at the cost effectiveness analysis of lung cancer screening was under way. Two task and finish groups had been set up to look at modelling and pathways respectively. A workshop had been planned for the summer where Prof Chris Hyde would present the outcome of the cost effectiveness model.

4.4 Non-invasive prenatal testing (NIPT)

On 1 June 2021 an evaluative rollout of NIPT started, which offered NIPT as a contingent test to women who receive a higher chance result of between ‘1 in 2’ and ‘1 in 150’ in the NHS pathway for combined or quadruple screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome.

4.5 Cervical screening self-sampling

In 2019, after a review of the evidence, the UK NSC asked for more research into cervical screening self-sampling. In response, the cervical screening programme and partners, including NHSEI, academics and charities, have been developing a national programme evaluation to offer self-sampling as a choice for everyone invited to screening. It was reported that this work was at the ethics and validation stage.

4.6 Severe combined immunodeficiency (SCID)

SCID evaluation was due to start in early September 2021 following agreed changes made to the NHS neonatal Bacillus Calmette-Guérin (BCG) immunisation programme. According to these changes, babies would be eligible for BCG vaccine once they have reached 28 days of life and on receipt of a screen negative SCID result (or ‘SCID not offered’ result if not within an area involved in the evaluation).

5. Ethics and engagement at the UK NSC

Prof Steele extended a formal thank you to Catherine Joynson who had been seconded from Nuffield Council of Bioethics. Catherine attended the meeting after concluding her secondment. During her time at PHE, Catherine focused on ethical considerations in the restoration of adult screening pathways, which had informed the papers circulated to members for the meeting.

The 3 ethics papers were separate items but linked pieces of work. The committee was asked to comment and feedback on whether it was happy to:

• adopt the values and framework
• start embedding it into its work to develop guidance
• share the work externally

5.1 Embedding ethics at the UK NSC

This item was presented by Prof Roger Brownsword.

In 2020 a draft set of UK NSC values, an ethical framework for screening and an ethical analysis process were developed by an informal group of members, drawn from across the UK NSC and its 2 reference groups. The ethics group had met twice to discuss the proposals since the initial meetings last summer – in October 2020 and May 2021.

The supportive document issued to the committee detailed the current draft UK NSC values and the groups which this had been presented to for discussion and feedback. An evidence review flowchart was included with the paper. This helped to outline how it would identify possible ethical issues and evidence to be considered as part of the ethical analysis work as the UK NSC’s looks to embed ethics into its work.

The committee members were invited to:

• comment on the current version of the UK NSC values and an ethical framework for screening
• consider if further consultation should be carried out before they are officially adopted and published by the UK NSC
• consider and comment on proposed internal guidance on carrying out an ethical analysis and resolving differences of opinion among members

The 4 principles of ethical evaluation were:

Principle 1: Improve health and wellbeing

Principle 2: Treat people with respect

Principle 3: Promote equality and inclusion

Principle 4: Use public resources fairly and proportionately

The 5 values of ethical evaluation were based on:

1. Rigour. Highest quality standards and best available evidence and expertise.

2. Independence and accountability. Behave impartially, with integrity and objectively.

3. Inclusiveness and respect. Broad range of stakeholders across the UK engaged with to reflect societal perspectives.

4. Transparency. Open and honest about procedures and evidence and expertise considered for recommendations.

5. Responsiveness. Evaluating and reassessing screening as evidence or opinions emerge.

The committee expressed concerns regarding resolving differences of opinion, for example as more genetic tests were available in antenatal and newborn screening. A proposed workflow for resolving disagreements was included with the paper, which would address uncertainty and differing views.

The committee discussed the option to have a standard agenda item for analysis and debate, keeping ethics at the forefront of discussions, being able to respond to proposals in a more innovative way.

As Catherine’s secondment had ended, UK NSC members questioned the ability to assemble a task group and asked whether there was any existing array of ethical experts available that the UK NSC could call upon. If not, members suggested that it would be useful to have an expert(s) on hand who would be available to assist on short queries on an ad hoc basis. Prof Mackie stated that the UK NSC was in contact with such experts on other controversial areas and would be available if required.

The committee concluded that it was content to adopt the proposed principles and ethical framework. It was also agreed that the guidance on resolving differences would be separated from the main ethical framework paper. Expansion of the committee would be considered once the terms of reference from the CMOs had been confirmed.

David Elliman suggested minor edits on pages 7 and 11. He agreed to email the suggested amendments to Catherine.

Action 4: Routine process to be undertaken to make the ethics discussion a standard item on for future UK NSC meeting.

Action 5: David Elliman to send amendments to Catherine Joynson and Nick Johnstone- Waddell for consideration.

5.2 Ethics task group report on child-family screening for familial hypercholestrolaemia

This item was presented by Prof Brownsword.

Committee members were invited to:

• comment on the process and findings of the ethics task group on child-family cascade screening
• agree if the UK NSC was content with the draft response letter to NHSEI on familial hypercholesterolaemia (FH) screening and for it to be issued

The UK NSC has 4 ethical principles:

1. Improve health and wellbeing.

2. Treat people with respect.

3. Promote equality and inclusion.

4. Use public resources fairly and proportionately.

Screening for FH in childhood was added to the UK NSC regular review list in 2016. The evidence relating to this topic was updated in 2019 to 2020. The focus on the child in the 2019 to 2020 review was driven by the principle that a health benefit should be gained by the screened individual.

The review concluded that there:

• was remaining uncertainty over the optimal screening age (papers discussing screening at 1 to 2 years or 9 to 10 years were reported), the kind of test, and the test thresholds that should be used in a FH screening programme in children
• was no evidence found to inform whether universal screening affects FH-related morbidity or mortality in children compared with no screening
• was no evidence to inform whether a universal screening programme may be associated with harms in children
• there was a need for consensus on how FH should be diagnosed in the context of a universal screening programme, whether by the existence of FH genetic variants and/or family history indicative of FH, or by raised cholesterol alone, given this is the mediator of cardiovascular risk

This led to the UK NSC not recommending the introduction of a childhood programme for FH in April 2020. The evidence review, and associated consultation also highlighted that screening for FH in children aged 1 to 2 raised ethical questions.

The latest review was undertaken by a combination of experts from the UK NSC and sub-groups, chaired by Prof Brownsword.

The review focused on childhood screening for FH raising ethical issues in relation to age gap when screening can be offered and the age where effective treatments can be initiated. It was thought that an ethics analysis could helpfully inform the next review scheduled in 2023.

NHSEI had recently shared plans to carry out a service evaluation of child-family cascade screening for FH in partnership with Academic Health Science Networks. The service evaluation would offer FH screening to 1 to 2 years old alongside routine childhood vaccinations. Cascade screening would be offered to traceable relatives of screen-positive children. These plans provided further motivation for the UK NSC to consider the ethical issues raised.

The ethics task group reviewed the current knowledge and practice on child-family cascade screening. The group discussed and agreed the arguments and conclusions of the report which was then presented to the FMCH.

The committee discussed and were content with the draft response letter to NHSEI on FH screening and for it to be issued.

Action 6: The committee adopted the principles and framework.

Action 7: 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 FH.

Action 8: The UK NSC to send a response letter to NHSEI on the child-family cascade screening for FH.

5.3 UK NSC stakeholder engagement review

This item was presented by Nick Johnstone-Waddell.

Committee members were invited to discuss the findings of the review of stakeholder and the publics involvement at the UK NSC, particularly the consideration of future working in light of imminent changes to the UK NSC’s host organisation and remit.

Catherine Joynson and Nick Johnstone-Waddell reviewed the way the UK NSC involved stakeholders and the public in its work. Two surveys were conducted to gather feedback, one for external stakeholders and an internal survey for members of the UK NSC, FMCH and ARG and the secretariat. Two focus groups and 5 interviews with stakeholders had also taken place. The surveys and focus groups provided a range of views on how successful the UK NSC had been in involving stakeholders in the past and to outline the different purposes of stakeholder and public involvement, how stakeholder and public involvement can inform UK NSC decisions, the challenges to be faced, and whether the UK NSC would need to make any changes in the future.

The stakeholder and public involvement at the UK NSC identified during the review could be summarised into 3 main categories. These are:

• creating informed, practicable, and thoughtful screening recommendations by drawing on expertise, experience, and views
• building trust and confidence in the UK NSC through effective consultation, collaboration, and communication
• keeping abreast of relevant developments through ongoing engagement with stakeholder networks

The review recommended that the UK NSC should set clear expectations for stakeholders and public engagement, which should be proportionate, flexible and transparent in its approach.

Recommendations included:

• building on current activities by being clear and transparent about when and why stakeholders are involved and how it informs UK NSC work
• developing new approaches by utilising the website and other online methods of engagement and ascertaining other ways in which patients and the public can contribute
• ensuring any future activities are properly resourced and regularly evaluated

The UK NSC agreed to develop a work plan and specific objectives and to review the outcomes to ascertain the success of stakeholder and public engagement. It was suggested that this would be in the form of a short annual survey.

Action 9: Report on stakeholder engagement to be published on GOV.UK after checking resource documents availability.

Action 10: Further work to be carried out on the action plan for the stakeholder engagement review before being published and communicated to a wider audience.

5.4 Public dialogue on the implication of whole genome sequencing in newborn screening

Henrietta Hopkins was invited to the meeting to discuss the paper on public dialogue on the implications of whole genome sequencing for newborn screening.

UK NSC members were invited to comment on the findings of the public dialogue and consider ways in which they can inform the UK NSC’s work.

Sciencewise Genomics England and the UK NSC had collaborated to carry out and publish work which looked to develop a dialogue on the implications of whole genome sequencing (WGS) for newborn screening to ensure societal values considered. The dialogue was co-funded and supported by Sciencewise, UK Research and Innovation (UKRI’s) public engagement programme. The delivery contractor was Hopkin Van Mil.

The oversight group for the project included experts in clinical genomics, screening midwifery, genetic counselling, sociology and stakeholder engagement, as well as representatives of patient and parenting groups. The group was chaired by Prof Anne-Marie Slowther and included members of the UK NSC and FMCH, and PHE/UK NSC staff and clinical advisors.

The dialogue fieldwork took place in February and March. It consisted of 133 participants from a broad spectrum of the UK population. Participants were grouped into 4 regional groups and 4 smaller groups. This allowed for a more focused audience such as pregnant women, their partners and new parents, families with genetic conditions, young adults and from black, Asian and minority ethnic backgrounds. A total of 40 virtual dialogue workshops were carried out.

Each participant took part in 5 workshops across a number of weeks. The workshops involved a mixture of information giving and discussion, stimulated by carefully developed materials and presentations from experts.

Hopkin Van Mil collated and analysed discussions that took place which had informed the report which had been presented to the committee. Members of the committee were invited to consider how the findings from the report could inform the UK NSC in the future.

The committee discussed whether WGS was the correct analogy to use in this instance. The question required further analysis as it had complications regarding quantity of information and what was useful to the patient being screened.

A public event workshop was scheduled on 8 July to mark the publication of the WGS report and promote findings and prompt conversations. An invitation to the event was sent to committee members who were encouraged to attend.

Action 11: UK NSC members invited to register their interest to attend the WGS workshop on 8 July.

6. UK NSC website

Lead content designer Nick Johnstone-Waddell provided the committee with a quick update on the new UK NSC website.

The new website went live on 17 May and has been 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, consultation information and information about screening in all 4 UK countries. Alongside this was the bespoke web app which lists the UK NSC recommendations in a new and easier to use format.

Nick thanked members of the committee for their assistance in providing information and setting up biographies.

For future meetings it is hoped reports will be produced that will provide the committee with some statistical data, including consultations and blog articles. To date the website has received around 70% of its views from within the UK while the remaining 30% of visitors were international, mainly from America.

Nick invited the committee to send any feedback that they had to him directly.

Action 12: Committee members to send any feedback on the new UK NSC web app to Nick Johnstone.

7. Adult reference group (ARG) report

In the absence of Dr Ros Given-Wilson, Prof Steele provided the committee with a quick update on discussions at the May meeting. This included the update on lung cancer, which was covered under the director’s update, information about the AI task group and proposed workstreams, feedback on the UK NSC’s March meeting in relation to the action for a workshop to be set up for hereditary hemochromatosis as well as the prostate cancer workshop that was held earlier that day.

The committee was also informed about a viewpoint article in the archives in disease in childhood that had rejected the UK NSC’s decision on FH screening, claiming it was flawed. The UK NSC had since drafted a response to the publisher, and this had been accepted.

8. Screening for AI in diabetic eye screening programme (DESP)

Goda Kijauskaite presented this item.

This was a programme modification proposal that the UK NSC received in 2019.

Diabetic eye screening is a recommended population screening programme in the UK, where all patient with diabetes aged 12 and over are invited to attend the diabetic eye screening programme (DESP) once a year.

During the visit, health professionals take images of each eye. Trained professionals called level 1 graders, study all images. More experienced graders (level 2) study images of patients with suspected diabetic retinopathy. If there is disagreement between level 1 and level 2 graders, level 3 graders make a final decision. Patients without diabetic retinopathy can return for another screen after 12 months. Patients with diabetic retinopathy need to have further assessment and treatment. Screening can be labour intensive and with the increased burden of diabetes growing the English programme has reported concerns of how screening is carried out.

The proposal submitted by the English DESP suggested that AI could be used to study the images and reduce workload. The UK NSC was informed that AI systems were already in use and had been implemented in Scotland and were being considered for clinical use in other countries too. The system used in Scotland was iGradingM which was based on traditional Machine Learning (ML) algorithms.

The UK NSC looked at the evidence to address the following 4 important questions:

1. Test accuracy.
2. Clinical utility.
3. Cost effectiveness.
4. Social and ethical implications of using AI.

For questions 1 and 2 an evidence summary was commissioned and for questions 3 and 4 an evidence map was commissioned.

The review concluded that further research would be needed before it could be introduced. This was because, although there were AI systems available which were accurate enough to do the initial reading of images, there was:

• only limited evidence that it provides better health and the value for money when compared to manual grading
• uncertainty about the social and ethical aspects of using AI systems in the screening programme

The committee undertook various stakeholder exercises in the form of workshops before moving to a truncated consultation of 4 weeks as this was a pressing matter.

The UK NSC contacted 59 stakeholders directly about the public consultation that was held in May. This led to 6 submissions, of which 2 agreed with the findings of the review. Several themes emerged from the consultation which were:

• test classification
• the need for further work
• incidental detection of other eye diseases
• appropriateness of expertise
• the quality of the review

These themes were addressed in more detail in the coversheet.

The chair asked the committee if they had any comments to make on the review or on comments submitted before a recommendation was made. Before this was opened to the floor, Goda added that it would be useful to know if the committee thought investigations of AI in DES should include the clinical impact on pathologies other than maculopathy and diabetic retinopathy. Members agreed that this question requires further consideration, and this should be addressed in the guidance document on evidence requirements for the application of AI in DESP.

Dr Shortland opened the discussion by expressing appreciation for the comments submitted given that this was a 4-week consultation. Members of the committee agreed. Dr Shortland queried the statement about no further learning being available even though Scotland had deployed this for almost 10 years. Goda responded to say that the reviewers had tried to get data for this but the issue was that much of the data Scotland held had not been published and was therefore not included in the review. Tasmin Sommerfield confirmed that it was the intention of the Scottish DESP to publish the data.

Prof Hyde highlighted that a further complexity with the use of AI systems in DESP between the Scottish and English programmes was the number of retinal photographs taken. In Scotland, only 1 field retinal photography would be taken while in England 2-field photographs were taken. Prof Hyde said this was why the NHS England digital, data and technology (NHSX) evaluation of the AI systems was important as it will gather information both on the test accuracy and the clinical impact of the AI system within the parameters of the English DESP.

Dr Sharon Hillier asked for an amendment to be made to the terminology used so that ‘replace level 1’ was amended to ‘could be used as level 1’. Dr Hillier stated that although the cost effectiveness of this change was yet to be considered as it was in the early stages, it was paramount that the wording was clear and not directive, given that such a change may be costly. The committee supported this change.

Before making the recommendation, the chair asked the committee whether they were supportive or had any objections. Members were supportive of this and no objections were raised. Overall, the UK NSC recommended that further research on test accuracy of newer versions of automated retinal image analysis systems (ARIAS), clinical utility and cost-effectiveness in the UK context was needed before a decision on the proposal to modify the DESP by using ARIAS can be made.

[Post meeting note: updates required to be made on the evidence product for AI in DESP was still with the external reviewer and would be published in due course].

In addition, it was agreed that:

• further work on social and ethical aspects of AI implementation in screening programmes should be commissioned

• the UK NSC evidence team in collaboration with external academics should produce a guidance document on the evidence requirements for the application of AI in DESP

Action 13 Goda to amend wording in the evidence review products to change ‘replace level 1’ to ‘could be used as level 1’.

Action 14 UK NSC to be sent the post consultation document of AI in DES following amendments.

9. Fetal maternal child health (FMCH) group report

Dr Sharon Hillier provided the committee with a brief summary of developments following the FMCH meeting in May.

The committee was informed that the FMCH group had taken the decision to commission further work on screening for biliary atresia based on the findings of the evidence map. Further work was being commissioned to look at this in further detail.

The UK NSC were informed that a public consultation on Duchenne muscular dystrophy would open in July.

10. Screening for iron deficiency anaemia in pregnancy

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 review report.

Anaemia is common among women during pregnancy and iron deficiency anaemia (IDA) is the most common cause of anaemia in pregnancy.

The UK NSC last looked at screening for IDA in pregnancy in 2006 when it recommended that National Institute for Health and Care Excellence (NICE) guidance should be followed but that a national population screening programme should not be introduced. This was because there was a lack of evidence on the protective effects of treatment for the mother and her baby and on the benefits and harms associated with screening for IDA in pregnancy.

The UK NSC’s 2021 evidence summary looked to identify studies to provide evidence on screening and interventions for mild and moderate IDA in pregnancy covering the UK NSC’s criteria of 1, 9 and 11. The criteria related to the following 3 questions which the review looked to address:

1. What are the maternal and infant outcomes associated with untreated mild and moderate iron deficiency with and without anaemia in pregnancy?

2. What are the benefits and harms of treating pregnant women for IDA and their infants, compared with no treatment?

3. What are the benefits and harms of screening for IDA during pregnancy, compared with no screening?

The findings of the evidence summary were that all 3 criteria were not met. There was no evidence on the potential harms of IDA in women who had not received treatment, there was an absence of evidence that explored that benefits and harms of screening and there was poor quality of available evidence on harms of treatment to allow for robust conclusion to be made.

A 3-month public consultation ran from February to May and 15 stakeholders were contacted directly. The UK NSC received 3 responses. Only one submitted a comment that agreed explicitly with the conclusions of the evidence summary, while the other 2 did not express a position but suggested adjustments to the review such as clarify the distinction of iron deficiency with and without anaemia.

Dr Visintin confirmed that amendments were made to the final publication document to reflect the suggestions. The stakeholders also asked that the final recommendation should be clearly phrased to ensure that although the UK NSC does not recommend the introduction of a national population screening programme, clinical practice should continue to be followed as recommended by national guidelines.

The UK NSC approved the recommendation that a systematic population screening for iron deficiency anaemia in pregnancy should not be recommended in the UK. However, the UK NSC recognised that testing for iron deficiency anaemia was a long-established clinical practice in antenatal care in the UK and that it was recommended in national guidance produced by NICE and British Society of Haematology (BSH).

11. Screening for gestational diabetes

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

Gestational diabetes mellitus (GDM) can happen in pregnancy when a woman cannot control her blood sugar levels. If not properly controlled, GDM can be dangerous for the mother and her baby.

There is no population screening programme for GDM in the UK. However, NICE recommends that women with risk factors are tested with a 2-hour 75g oral glucose tolerance test (OGTT). Risk factors include obesity and family history of diabetes. Apart from NICE guidance, there were different recommendations for the tests and diagnostic thresholds criteria given by different national and international organisations. This translates into heterogeneity in studies of epidemiology and natural history of GDM, accuracy of screening tests and efficacy of interventions used to treat GDM.

The UK NSC last reviewed this condition in 2010 based on an HTA assessment that found that screening for GDM did not sufficiently meet the UK NSC criteria. Reasons for this were that:

• there was no evidence that the benefits of screening outweigh the harms

• there was no agreement between experts about the cut-off point at which an intervention should be given

• no randomised control trials to assess the effect of screening have occurred

The 2021 UK NSC evidence summary looked at the following 3 questions:

1. What are the risks of short and long-term adverse outcomes associated with incremental increases in maternal blood glucose level in the newborn?

2. What are the most effective screening tests or strategies to identify women at risk of hyperglycaemia in pregnancy or GDM?

3. What is the most effective intervention for lowering glucose levels in screen-detected pregnant women with GDM and preventing adverse perinatal outcomes?

The conclusion of the 2021 evidence summary was that population screening for GDM should not be recommended as all 3 criteria were not met. In relation to question 1, although the review found a large volume of evidence of moderate-to-high quality, the applicability of these studies to the UK population was limited.

For question 2, the review identified 18 publications on 14 studies that were of good quality and low risk of bias. However, none of these studies found a screening strategy that achieved test accuracies where both specificity and sensitivity were high enough to be considered as a suitable and reliable screening the test that was good enough to replace the current test of the 2 hour 75g OGTT.

For question 3, although 34 randomised control trials were identified and reported as being of moderate to high quality, the evidence did not support increased effectiveness or benefits of any one specific intervention over another for improving outcome in pregnant women with GDM. Overall, it was seen to be uncertain as to whether the conclusions based on clinically detected GDM could be applied to a screen-detected population.

The UK NSC held a 3-month consultation from February to May 2021 and contacted 16 stakeholders directly. The UK NSC received 3 consultation comments. None of the responses submitted disagreed with the conclusion of the review but stated that the review should have focussed on ‘high risk’ groups not on screening in the general population. There was a concern that women who were most at risk of developing GDM (women of ethnic minority origin, those with a family history of diabetes, and those who were obese) were not equally looked after across the UK.

The committee noted the comments from the stakeholders, especially in relation to the high-risk populations, but agreed that this was outside the scope of the UK NSC. It was noted that this could be a potential candidate for a future review for the new screening advisory body. No further comments were made.

The UK NSC approved the recommendation that a systematic population screening for gestational diabetes mellitus should not be recommended in the UK. However, it agreed that NICE guidance should be adhered to for women who were considered as ‘high risk’.

Action 15: The secretariat was asked to add GDM in pregnancy to its internal list of potential targeted screening candidates.

12. NIHR NETSCC

Mr Marshall informed the committee that Dr Hicks had taken retirement.

The National Institute of Health Research would continue to provide the UK NSC with research study updates.

Action 16: The secretariat to send a valedictory letter to Dr Hicks.

Action 17: The secretariat to contact NIHR about a replacement observer on the committee and how it could better strengthen relationships.

13. AOB

The UK NSC were informed that the evidence map on CLN2 (a 2020 annual call for topic proposal) would soon be ready.

14. Next meeting

Thursday 4 November 2021

15. Chair’s action – 2020 annual call proposal on screening for CLN2

15.1 Initial status

The UK NSC received the proposal on screening for neuronal ceroid lipofuscinosis type 2 (CLN2) for consideration as part of the 2020 annual call for topics.

In January 2021, the annual call evaluation group and FMCH agreed that, as this topic had not been previously considered by the UK NSC, an evidence map should be carried out to assess the volume and type of evidence relevant to newborn screening for CLN2.

15.2 Reason for chair’s action

The evidence map for CLN2 was due to be completed shortly after the UK NSC meeting on the 25 June 2021.

The committee was informed under AOB that this would be circulated electronically for comments and signed off under chair’s action, rather than delaying the publication of the outcome to the November 2021 UK NSC meeting.

The evidence map was shared for comments with FMCH, which was content with the findings. One comment was received from an FMCH member who agreed with the conclusions of the evidence map and made a generic observation on the fact that these requests for screening programmes driven by the availability of new treatments like CLN2 were going to be difficult to handle.

The evidence map was then circulated to the committee where one comment was received. This agreed with the conclusions of the evidence map and noted that the current treatment itself has complications and a considerable number of adverse side effects. The UK NSC member suggested that the proposer should be advised to resubmit the topic for consideration if and when more substantial evidence was available and that in the meantime, the UK NSC can continue to liaise with NICE for updates on the ongoing managed access agreement.

15.3 Decision

The UK NSC supported the outcome of the evidence map which concludes that the volume and type of evidence was insufficient to justify an evidence summary at this stage.

The UK NSC recommended that no further work should be commissioned at this time to look at the offer of newborn screening for CLN2.

As newborn screening for CLN2 has not been previously reviewed by the UK NSC, any future consideration of this topic would need to be submitted via a separate annual call for topic submission when more substantial evidence relating to the test accuracy and the benefits of early intervention has been published.

15.4 Chair’s confirmation

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

Signed: R.J.C Steele

Date: 8 September 2021