Corporate report

UK NSC annual report 1 April 2023 to 31 March 2024

Published 18 July 2024

1. Foreword by Professor Sir Mike Richards, UK NSC Chair

It has been another very busy, stimulating, and productive year for the UK National Screening Committee (UK NSC).

This report is a summary of what we’ve accomplished over the past 12 months. These achievements have only been possible thanks to the expertise and hard work of my fellow committee and expert group members, the secretariat, and our policy and NHS colleagues across the 4 UK nations.

It is an increasingly exciting and challenging time for screening. The UK NSC is receiving a growing number of screening proposals due to its expanded remit. At the same time, there is an exponential growth in technologies, such as genomics and artificial intelligence (AI), which hold out the hope of improving outcomes and which people are eager to see used in screening as soon as possible.

This report highlights many examples of how the UK NSC is evolving and innovating to meet the challenge. We are adapting, but we must always remain true to the approaches and ethical principles that have delivered the UK’s highly respected, effective, and trusted screening programmes.

Evidence remains at the heart of everything we do. If evidence supports the use of a new technology in screening, and if feedback from expert stakeholders and public consultation is positive, then we will support it. This was the case this year when we endorsed the use of digital pathology to help speed up the analysis and reporting of samples in the breast, cervical and bowel cancer screening programmes.

If the evidence is not quite there yet, then we actively support and encourage research to help fill in the gaps. We are playing a leading role in promoting research into the use of AI in breast screening to help determine if AI can work as well as human readers in real world settings and be acceptable to women and clinicians. Our research and methodology group (RMG) provides expert advice to help researchers design effective studies that have the best chance of influencing screening policy in the future. And the blood spot task group (BSTG) is pressing ahead with work that will help identify practical and innovative approaches for developing evidence in newborn blood spot screening for rare diseases.

Randomised controlled trials (RCTs) remain the gold standard for evidence. We set the bar deliberately high for high-quality peer-reviewed screening evidence because, as Sir Muir Gray wrote, “all screening does harm, some does good as well, and some does more good than harm.” However, we know RCTs are not always feasible, particularly when assessing screening for rare diseases. Therefore, the UK NSC increasingly uses modelling, in-service evaluations (ISEs) and other methods to inform its recommendations when it is not possible to get all the evidence we need from traditional approaches.

This year, we have been using an innovative approach of simultaneously planning a new modelling study and an ISE to assess the case for screening for spinal muscular atrophy (SMA), a rare genetic condition that causes progressive muscle wasting and weakness. The modelling study will help define important issues for the ISE while the ISE will collect data to feed into the model and test its assumptions. This parallel approach will help us evaluate the evidence in a timely manner while continuing to bring academic rigour and authority to our work. Should the results be positive, this approach will also assist with rapid national implementation of screening.

We will also be using an ISE to assess the effectiveness of offering self-sampling as an alternative to clinician-taken tests in the cervical screening programme. This year’s completion of the HPValidate study paves the way for this ISE to start.

These are just a few examples of how the technology and evidence base are constantly growing and how the UK NSC is evolving to keep pace with those changes.

2. About the UK NSC

The UK National Screening Committee (UK NSC) is an independent scientific committee that advises ministers and the NHS in the 4 UK countries about all aspects of screening and supports implementation of screening programmes.

 Representatives of all 4 countries are integral to the work of the UK NSC, its expert groups, feasibility task groups and the adoption of its recommendations.

The committee’s work is underpinned by its values and ethical framework. The framework has 4 principles, which are to:

• improve health and wellbeing
• treat people with respect
• promote equality and inclusion
• use public resources fairly and proportionately

3. Highlights of the year 

3.1 Diabetic eye screening lower risk pathway implemented in Wales and England

The NHS in Wales and England this year started to invite people with diabetes who are at lower risk of diabetic retinopathy for diabetic eye screening every 2 years instead of every year.

This lower risk diabetic eye screening pathway was recommended by the UK NSC following an evidence review that demonstrated it is safe to offer screening every 2 years for people who have had 2 consecutive eye screening tests showing no signs of diabetic retinopathy.

The lower risk pathway had already been implemented in Scotland and Northern Ireland.   

3.2 English government approves recommendation to screen for tyrosinaemia

The English government this year endorsed the UK NSC’s recommendation to introduce newborn screening for hereditary tyrosinaemia type 1 (HT1), a rare genetic condition.

HT1 will be added to the conditions screened for by the NHS Newborn Blood Spot (NBS) Screening Programme in England. This will potentially find an additional 3 babies a year who can be offered drug treatment and a special diet before they become symptomatic, reducing the chance of liver disease and the need for liver transplantation.

NHS England (NHSE) has started work on planning the implementation of HT1 screening in local services.

3.3 Use of digital pathology endorsed in cancer screening

The UK NSC approved the use of digital pathology as an alternative to light microscopy for the review of cancer screening histopathology slides.

Digital pathology enables glass histopathology slides to be reviewed digitally, rather than with a microscope. A Health Technology Assessment (HTA) study found that this technique performs as well as light microscopy in cancer screening and that pathologists were comfortable and able to use both methods.

This option will help speed up the analysis and reporting of samples in the NHS breast, cervical and bowel cancer screening programmes. Its use will support flexibility for pathologists, enable laboratories to work more efficiently and quickly, and make sharing samples for second opinions or quality assurance easier and more efficient.

Following a 6-week consultation, the UK NSC endorsed the use of digital pathology at its November 2023 meeting, agreeing that it is a safe option to complement or replace light microscopy.  

The UK NSC’s permissive recommendation on the use of digital pathology in cancer screening has been endorsed by the English and Scottish governments, and is being considered by the governments in Wales and Northern Ireland, so that it can be implemented by the NHS.

3.4 UK NSC recommends adding quadruple test to the Edwards’ syndrome screening pathway

The committee recommended modifying the offer of antenatal screening for Edwards’ syndrome (Trisomy 18 or T18) as part of the fetal anomaly screening programme in the 4 nations.

Following a public consultation, members agreed at their March 2024 meeting that the quadruple screening test is accurate enough to be added to the screening pathway for this rare but serious condition.

This modification recommended by the UK NSC, if endorsed by ministers, would mean that pregnant women who miss the combined test could in future be offered the quadruple test to screen for Edwards’ syndrome in the second trimester of pregnancy.

The quadruple test, which uses maternal age and 4 biochemical markers, is currently offered in screening for Down’s syndrome only.

The committee was satisfied that the evidence from a rapid review of data demonstrated that the quadruple test was accurate enough to screen for Edwards’ syndrome, but not for Patau’s syndrome.

Responses received during the public consultation supported the findings of the rapid review.

Ministers will decide whether to endorse this recommendation so this modification can be implemented in NHS services.

3.5 Working in partnership to assess the case for SMA newborn screening

In June 2023, the UK NSC endorsed a 2-fold recommendation to progress work to review the case for newborn screening for spinal muscular atrophy (SMA). The committee agreed to simultaneously:

• develop a new comprehensive and flexible cost effectiveness SMA screening modelling study for the UK screening context
• start scoping an in-service evaluation (ISE) of newborn screening for SMA in real world NHS services in the UK

The UK NSC established a partnership board and 3 expert sub-groups to oversee the planning of the ISE. The partnership board includes screening experts from the 4 UK governments and NHSE’s Vaccination and Screening Directorate as well as organisations that have a shared interest in newborn screening for SMA, clinicians, academics, genomic experts and patient and public voice members.

These groups have made considerable progress in planning the ISE’s clinical pathway, data and methodology, and laboratory issues.

Meanwhile, the Sheffield Centre for Health and Related Research (ScHARR) has been commissioned to develop a new modelling study.

The modelling study and ISE will inform a final UK NSC recommendation to ministers in all 4 UK countries on whether SMA should be added to the UK’s NBS screening programmes.  

3.6 Progress on blood spot task group work

The UK NSC’s BSTG was set up to identify practical and innovative approaches to help researchers and others develop evidence to help the UK NSC make robust screening recommendations for very rare conditions. 

Progress on BSTG work this year included: 

• publication of a manuscript comparing the key principles of newborn screening between the UK and European Organisation for Rare Diseases (EURORDIS) 
• 2 international workshops to help identify challenges, opportunities and practical approaches when developing modelling studies for rare diseases in newborn settings 
• work to consider options for the design of test accuracy studies 
• the start of a project that looks at the evidence base for the outcomes from newborn screening, focusing specifically on the methods and mechanisms used to monitor outcomes over time   

3.7 Results of evaluation of newborn screening for SCID to be analysed

Severe combined immunodeficiency (SCID) is the name for a group of rare conditions that make it very hard to fight off common infections like pneumonia and meningitis.

A practical evaluation of NBS screening for SCID in English NHS services was launched in September 2021 by the Department of Health and Social Care (DHSC) and NHSE.

The formal evaluation period ended this year. Data from the evaluation will help answer questions about the effectiveness of NHS screening for SCID in England compared to the way babies with the condition are detected without screening. Information is also being gathered on the impact of screening both on the public and on healthcare professionals.

Following the completion of the evaluation, a report will be submitted to the UK NSC. The committee will review the report, take the advice of newborn screening experts, and consult for 3 months before making a recommendation to ministers on whether SCID should become part of the NHS NBS screening programmes in the UK.

3.8 HPValidate cervical screening self-sampling study completed

Deciding whether to have a screening test is a personal choice and individuals should be encouraged to consider what is right for them, according to their own unique circumstances.

It is important to remove barriers to screening participation where possible so that people feel able to take up the offer of screening if they want to.

One future option for cervical screening that could remove a barrier to participation could be to offer individuals the choice of taking their own sample – using a vaginal swab – rather than having a clinician take their sample.

A study was set up in 2021 in England, working with NHSE, as a first step in finding out if vaginal self-sampling could be offered as an alternative option alongside the traditional clinician-taken test in the NHS Cervical Screening Programme.

This study, HPValidate, completed this year having collected 5,000 samples from general practice and 1,750 samples from colposcopy clinics to determine the accuracy of vaginal self-samples compared to clinician-taken samples.

Several self-sampling swab kits and devices to test them in laboratories were evaluated in the study. The data will be analysed to provide validated HPV self-sampling kits and test device combinations.

Any validated combinations of kits and test devices will  be used in an ISE that will provide the UK NSC with real world evidence on the effectiveness and acceptability of offering HPV self-sampling in the NHS Cervical Screening Programme in England.

3.9 Expansion of stakeholder engagement work

During the year the UK NSC continued to expand its reach and engagement with stakeholders through a variety of workstreams and activities.

In September 2023, the committee hosted the annual meeting of the Nordic Screening Network in London welcoming screening colleagues from Denmark, Iceland, the Netherlands, Norway and Sweden. Delegates discussed and compared screening practices, challenges and future developments.

A series of online screening seminars  also started this year for stakeholders to learn from leading experts and discuss important screening topics.

The first of these events looked in detail at the evidence and processes the UK NSC followed in developing a clinical pathway for the modelling of targeted lung cancer screening. The second seminar looked at the process of planning and running an ISE, drawing on the real-world context of the evaluation of screening for SCID as part of the NHS NBS Screening Programme in England. The third event focused on the potential benefits and limitations of using polygenic scores to calculate the overall risk of developing a disease or condition. The secretariat is working on plans to hold more seminar events during the coming years. 

Bowel cancer screening stakeholders and experts, including patient organisations, leading academics, clinicians, public health and screening policy  professionals, attended an horizon scanning event in Edinburgh.

Horizon scanning principles underpin the UK NSC’s evidence review processes. Experts at the Edinburgh event discussed many potential developments that could transform bowel cancer screening in the years to come, including risk stratification in screening, novel screening tests and artificial intelligence (AI) technologies.

The UK NSC secretariat continues to host the popular screening masterclass. Demand for the interactive masterclass sessions continues to grow across a wide range of stakeholder groups.

The secretariat also runs a bursary scheme to enable a small cohort of stakeholders to undertake in-depth study of a health screening masters level module.

As the committee reaches out to a wider range of stakeholder voices, it is essential that it maintains its independence, transparency, integrity, objectivity, and public trust.

That is why this year the UK NSC updated its guidance and processes for how individuals must declare any interests that may conflict, or be perceived to conflict, with their work with the committee. This includes new guidance for how those conflicts of interest could and should be mitigated depending on individual circumstances.

3.10 UK NSC sponsors new research into use of AI in breast screening

AI has the potential to improve and transform healthcare because it does not tire, works 24 hours a day and can work much faster than humans.

There are many ways in which AI might be used in breast screening, including help with reading mammograms, releasing pressure on a limited workforce. However, it must find at least the same number of cancers as current screening practice, be just as good at saying there is no cancer on a mammogram and be acceptable to women and clinicians.

The UK NSC played a leading role in developing the HTA research funding opportunity ‘The use of artificial intelligence for image interpretation in breast cancer screening’, published in May 2023. This new study, once completed, will provide important evidence on how medical staff would interact with AI, how it would affect uptake of the programme and how AI would impact on women’s health.

3.11 Research and methodology group gets down to work

The UK NSC’s expert research and methodology group (RMG) was set up to support closer alignment between research, researchers and screening recommendations. Part of its role is to provide advice to people or research bodies that are conducting or proposing screening studies.

The RMG received a large number of submissions during its first full year of operation and considered them at its 4 meetings held between 1 April 2023 and 31 March 2024.

The RMG’s responses and advice aim to help ensure that researchers design effective studies with good targets that have the best chance of influencing screening policy. 

4. Evidence reviews 

The UK NSC follows an evidence review process when considering proposals to introduce, modify or stop national population screening programmes.

The committee assesses the evidence using criteria for appraising the viability, effectiveness and appropriateness of a screening programme.

It regularly reviews screening evidence for more than 100 conditions. The following are the reviews it carried out this year.

4.1 Screening for neonatal diabetes  

Neonatal diabetes mellitus (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.

UK NSC screening recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for neonatal diabetes.

Reasons

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

The UK NSC was, however, aware of 2 large studies that could potentially change this position. The committee would encourage the study researchers to publish their findings when ready and to submit a new proposal for screening for NDM during a future UK NSC annual call for topics.

4.2 Screening for metachromatic leukodystrophy 

Metachromatic leukodystrophy (MLD) is a rare inherited disorder that leads to a progressive loss of physical and, later, mental skills. The UK NSC received a proposal for newborn screening for MLD during its 2021 annual call for topics.

UK NSC screening recommendation

Following a review of the evidence, the UK NSC does not recommend newborn screening for MLD but agreed that further work should be commissioned.

Reasons

An evidence map commissioned into newborn screening for MLD concluded that the available evidence on screening test accuracy and cost-effectiveness, though limited, is promising and warrants further review. It found that the volume and type of evidence related to the benefits and harms of treatments in presymptomatic patients with MLD is sufficient to justify a more in-depth review of the evidence.

4.3 Screening for anorectal malformations

Anorectal malformations are birth defects in which the anus and rectum (the lower end of the digestive tract) do not develop properly. They occur in an estimated 1 in 5,000 newborns and can range from mild to complex.

UK NSC screening recommendation

Following a review of the evidence, the UK NSC does not recommend screening for anorectal malformations.

Reasons

An evidence map commissioned into screening for anorectal malformations found no suitable studies that reported a screening test used in screening type populations (consecutive or randomly selected) of all newborns and/or infants. The committee decided that the UK NSC should await new evidence before any further work.

4.4 Screening for craniosynostosis

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.

UK NSC screening recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for craniosynostosis.

Reasons

The committee agreed with the findings of the evidence map commissioned into screening for craniosynostosis. This concluded that the volume and type of evidence is currently insufficient to justify an evidence summary and no further work on screening for craniosynostosis should be commissioned at the present time.

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 topics once more substantial evidence relating to test accuracy has been published.

4.5 Screening for vasa praevia

Vasa praevia is a rare but serious health condition. It occurs when the blood vessels from the placenta or umbilical cord block the birth canal. It can mean that the blood vessels tear during birth, which has serious consequences for the mother and her baby.

UK NSC screening recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for vasa praevia.

Reasons

Screening women for vasa praevia during pregnancy is not recommended because:

• it is not known how many babies are affected by it in the UK
• it is not known how accurate screening tests are at detecting it
• screening may mean some women are offered an early caesarean when they do not need one
• some women may be reassured by false tests and still have a problem during delivery

Options for screening for vasa praevia remain under-explored in the UK and there remains very limited evidence on which to base recommendations. A targeted approach which builds on current practice, such as the detection of low-lying placenta at mid-term, may provide a starting point for considering a wider antenatal detection strategy.

4.6 Use of digital pathology in analysis of cancer screening samples 

The UK NSC reviewed evidence on the use of digital pathology as an alternative option to light microscopy for the review of histopathology slides in breast, cervical and bowel cancer screening.

UK NSC recommendation

Following a review of the evidence, the UK NSC endorsed the use of digital pathology as an alternative option to light microscopy for the review of cancer screening histopathology slides.

Reasons

A Health Technology Assessment study found that digital pathology performs as well as light microscopy in cancer screening and that pathologists were comfortable and able to use both modalities. The committee was satisfied that digital pathology can represent a safe option for commissioners and providers of diagnostic pathways in the bowel cancer, breast and cervical screening programmes.

4.7 Addition of quadruple test to Edwards’ syndrome screening pathway  

Edwards’ syndrome (Trisomy 18) is a rare condition which occurs in 3 in every 10,000 births. Babies with Edwards’ syndrome have an extra copy of chromosome 18 in all or some cells. Sadly, survival rates are low and of those babies born alive with Edward’s syndrome, only around 13% will live past their first birthday. Some babies may survive to adulthood but this is rare.

UK NSC recommendation

Following a review of the evidence, the UK NSC recommended that the quadruple screening test be added to the antenatal screening pathway for Edwards’ syndrome (Trisomy 18 or T18) for women who miss, or do not complete, the first trimester combined test.

Reasons

The committee was satisfied that the evidence from the rapid review demonstrated that the quadruple test is accurate enough to be added to the antenatal screening pathway for Edwards’ syndrome but not to the pathway for Patau’s syndrome.

5. UK NSC membership

5.1 Chair

Professor Sir Mike Richards.

5.2 Vice-chair

Dr Graham Shortland (paediatric expert), Medical Director and Consultant Paediatrician, Cardiff and Vale University Health Board.

5.3 Members

Professor Natalie Armstrong (implementation scientist), Professor of Healthcare Improvement Research at the University of Leicester.

Eleanor Cozens (patient and public voice (PPV)).

Greg Fell (public health expert), Director of Public Health Sheffield.

Dr Rosalind Given-Wilson (ARG Chair), Consultant Radiologist at St George’s Healthcare NHS Foundation Trust.

Dr Sharon Hillier (FMCH Chair), Director of the Screening Division, Public Health Wales.

Professor Chris Hyde (health economist), Chair of Public Health and Clinical Epidemiology at the University of Exeter.

Professor Anneke Lucassen (genetics expert), Professor of genomic medicine and consultant in clinical genetics, University of Oxford.

Professor Bethany Shinkins (test expert), Professor of Health Economics at Warwick Medical School at the University of Warwick Professorship position at the University of Warwick (from March 2022).

Dr Anne-Marie Slowther (clinical ethics expert), Reader in Clinical Ethics, Warwick Medical School, University of Warwick.

Professor Sian Taylor-Phillips (data scientist and RMG Chair), Professor of Health Economics at Warwick Medical School at the University of Warwick.

5.4 Observers

June 2023

Martin Allaby – Consultant in Public Health and Evidence-based Healthcare, National Institute for Health and Care Excellence (NICE)

Rebecca Albrow – NICE

Nicola Brink – State of Guernsey

Lisa Douet – National Institute for Health and Care Research (NIHR)

Colum Durkan – Isle of Jersey

Dr David Elliman – Clinical lead for NHS Newborn and Infant Physical Examination Programme and NHS Newborn Blood Spot (NBS) Screening Programme

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)

November 2023

Martin Allaby

Rebecca Albrow

Peter Bradley – Government of Jersey

Nicola Brink

Suzanne Crowe – Ireland

Lisa Douet

Colum Durkan

Dr David Elliman

Roberta James – Scottish Intercollegiate Guidelines Network (SIGN)

Elizabeth Luckett

Diane Matthews

Professor Zosia Miedzybrodzka

Steve Powis – National Medical Director, NHSE

Angela Timoney – SIGN

Deborah Tomalin – Director of Screening, NHS England

Joanne UiChrualaoich – Ireland

Hugo van Woerden – Isle of Man

March 2024

Martin Allaby

Nicola Brink

Lisa Douet

Dr David Elliman

Elizabeth Luckett

Diane Matthews

Professor Zosia Miedzybrodzka

Steve Powis

Deborah Tomalin – Director of Screening, NHS England

Jennifer Taylor – Public Health Registrar

Tom Callender – Public Health Registrar

Maeve Gill – Public Health Registrar

5.5 Invitees

June 2023

Sir Frank Atherton – Chief Medical Officer (CMO), Wales

March 2024

Nadia Permalloo – Quality and Improvement Lead, NHSE

Rebecca Till – Antenatal Pathway Implementation Lead, NHSE

5.6 UK Health Department officials

Dr Carol Beattie – Northern Ireland

Gareth Brown – NHS Scotland

Alexander Cruickshank – Scottish Government

Nimisha De Souza – Department of Health and Social Care (DHSC)

Peter Jones – Welsh Government

Meng Khaw – Public Health Wales

Chloe Kelly – Scottish Government

Lynn Larkin – Northern Ireland

Laura McGlynn – Scottish Government

Laura Parkhill – Northern Ireland

Laurie Hayward – Welsh Government

Dr Heather Payne – Acting Deputy Chief Medical Officer, Welsh Government

Jack Price – DHSC

Ray Smith – DHSC

Dr Tasmin Sommerfield – National Screening Oversight (NHS Scotland)

Helen Tutt – Welsh Government

Susan Thompson – Scottish Government

5.7 UK NSC Secretariat

Rebecca Dliwayo – UK NSC Evidence Review Manager

Jo Harcombe – Head of UK NSC Information and Engagement Management

Mike Harris – Head of UK NSC Transparency and Public Understanding

Ailsa Johnson – Secretariat Network Convenor

Fabrice Lafronte – UK NSC secretariat support officer

Miranda Lawton – Programme Manager, Office for Health Improvement and Disparities (OHID) Screening Team

Silvia Lombardo – UK NSC Modelling Lead

Prof Anne Mackie – Director of Programmes, UK National Screening Committee (UK NSC)

John Marshall – Evidence Lead

Carolina Martinelli – UK NSC Targeted Screening Lead ,

Zeenat Mauthoor – Secretariat Expert Committee and Policy Liaison Manager

Anne Stevenson – Head of UK NSC  Screening Programme Design, Development and Effectiveness

Omaer Syed – Senior Evidence Review Manager

David Thompson – Senior Evidence Review Manager

Dr Cristina Visintin – Research Lead