Corporate report

UK NSC annual report 1 April 2022 to 31 March 2023

Published 20 July 2023

© Crown copyright 2023

This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. To view this licence, visit nationalarchives.gov.uk/doc/open-government-licence/version/3 or write to the Information Policy Team, The National Archives, Kew, London TW9 4DU, or email: psi@nationalarchives.gov.uk.

Where we have identified any third party copyright information you will need to obtain permission from the copyright holders concerned.

This publication is available at https://www.gov.uk/government/publications/uk-national-screening-committee-annual-report-2022-to-2023/uk-nsc-annual-report-1-april-2022-to-31-march-2023

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

My first year as chair of the UK National Screening Committee (UK NSC) has been challenging, stimulating and thoroughly enjoyable.

I think we can look back with great pride on a year of significant achievements. And that’s thanks to the hard work, expertise, enthusiasm and good humour of colleagues on the committee, the secretariat in the Department of Health and Social Care (DHSC), the devolved governments, the NHS national screening teams and many others.

It is a tribute to their dedication that we have so much to celebrate after a year in which the committee was also adjusting to its expanded remit, major organisational changes and recruitment and procurement challenges.

My appointment as chair in March 2022 came at a very exciting time for screening. The expansion of the UK NSC’s remit enables us to consider a much larger range of topics, including targeted screening (identifying people with a higher risk of a condition beyond demographics such as age or gender) and stratified screening (tailoring testing to individual risk).

This provides the committee with great opportunities to improve outcomes across a wide range of conditions, but it also requires us to conduct even more complex evaluations of the evidence to carefully assess if the benefits of screening outweigh the harms at reasonable cost.

The expanded remit prompted a record number of 30 submissions during the 2022 annual call for topics – by far the biggest number since we started the annual call process in 2016. These 30 submissions included 15 targeted screening proposals.

During the year, we appointed new UK NSC members and created a new Research and Methodology Group (RMG) to help manage this increased workload. The RMG will work alongside the existing expert groups – the Adult Reference Group (ARG) and Fetal, Maternal and Child Health (FMCH) group.

In June 2022, after a period of intense discussion and academic input, the committee made its first positive recommendation for a national targeted screening programme – for people aged 55 to 74 identified as being at high risk of lung cancer due to their smoking history.

Lung cancer is one of the most common types of cancer in the UK and worldwide. Around 48,000 people are diagnosed with lung cancer and about 35,000 people die from the disease every year in the UK. Our recommendation for a national targeted lung cancer screening programme is incredibly exciting as it has the potential to prevent thousands of lives lost to lung cancer every year.

I was delighted we were also able to recommend the introduction of newborn screening for tyrosinaemia, a very rare genetic condition that prevents the body breaking down a substance called tyrosine found in food. Screening, as part of the newborn blood spot screening programme, should enable babies with this condition to be identified before the onset of symptoms, avoiding liver disease and the need for liver transplantation.

As you will see, the report highlights exciting progress on many other workstreams. This includes looking at the potential use of multi-condition tests in screening programmes, considering proposals to stratify the breast screening programme by different risk factors and establishing the blood spot task group (BSTG) to help evaluate the evidence for rare newborn diseases.

There is so much to celebrate and next year promises to be just as busy, challenging and exciting. Thank you once again to all of you who have contributed to this work and continue to do so.

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.

The committee supports DHSC, the Welsh Government, The Scottish Government, and the Department of Health (Northern Ireland). 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. Headlines from the year

Between 1 April 2022 and 31 March 2023 the UK National Screening Committee (UK NSC):

4. Planning under way for national targeted lung cancer screening programme

In 2022 to 2023, initial planning work, supported by the UK NSC, started to look at what a new national targeted screening programme for lung cancer would look like.

This follows the UK NSC’s recommendation, in June 2022, that the 4 UK nations should move towards implementing a targeted screening programme for lung cancer, using low-dose computed tomography (CT) scans, in people aged 55 to 74 years with a history of smoking. The recommendation said screening should be aligned with integrated smoking cessation services. The Targeted Lung Health Checks (TLHC) programme will provide a starting point for implementation in England.

This was the committee’s first positive recommendation, under its expanded remit, for a national targeted screening programme.

Evidence from international trials indicates targeted screening should reduce lung cancer deaths by finding people with the disease at a stage when they might not have symptoms, but when treatment would be effective. A national programme would have the potential to save thousands of lives and evidence suggests screening would be acceptable to public and professionals if adequately resourced and quality assured.

However, committee members agreed more modelling work was needed before the optimum screening processes, pathway and implementation plans could be finalised.

The Lung Screening Task Group of lung cancer screening experts, including representatives of the NHS in the 4 UK nations, was set up to:

  • help the UK NSC refine its recommendations
  • provide useful information to help the NHS in each nation develop its own implementation plans

Group members include clinicians, user representatives, experts from other countries and experts drawn from the UK NSC and its expert sub-groups.

The lung cancer screening oversight group met for the first time in December 2022. At its first meeting, members discussed the modelling work and were asked to submit, for prioritisation, questions they felt modelling work should address. Their suggested questions fell into broad categories that included:

  • natural history of the disease
  • screening pathway
  • incidental findings
  • workforce/infrastructure issues
  • resources
  • smoking cessation service provision

Optimum lung cancer screening processes and pathways will continue to be developed and finalised before the NHS in each UK nation formalises plans with its ministers.

5. Positive recommendation for tyrosinaemia newborn screening

The UK NSC recommended the introduction of screening for tyrosinaemia as part of the newborn blood spot screening programme at its November 2022 meeting.

Planning work has started to look at what methodologies will enable tyrosinaemia type 1, or TYR1, to be added to the conditions screened for by the newborn blood spot screening (NBS) programmes in the 4 UK nations.

TYR1 is a very rare genetic condition that prevents the body breaking down a substance called tyrosine found in food. If untreated, tyrosine gathers in the body and can damage the liver, kidneys and the nervous system.

The UK NSC had delayed making a recommendation on the condition in June 2022 to allow more time for work to assess whether a screening programme for TYR1 could be cost effective.

The findings of this additional modelling work were presented to the committee’s November meeting. The modelling suggested screening could increase the number of babies with TYR1 who are detected before the onset of symptoms. These babies could then be offered drug treatment and a special diet, thereby avoiding liver disease and the need for liver transplantation – a very important outcome for babies and their families.

There is always uncertainty with rare diseases, so the committee stressed it would be very important to collect and report data on screening and babies’ health to assess the real-world impact of screening once implemented.

The Tyrosinemia Screening Task Group of newborn screening experts was set up to provide oversight and advice to the fetal, maternal and child health (FMCH) group on next steps.

This group met for the first time in February 2023. Its members include representatives of the NHS in the 4 UK nations, clinicians, user representatives, experts from other countries and experts drawn from the UK NSC and its sub-groups. Additional professionals, such as laboratory experts, will be invited to contribute as and when required.

The task group aims to:

  • describe important elements of the pathway and programme to ensure NHS screening programmes would be effective in reducing the harms from TYR1
  • provide advice to the NHS in the 4 nations to assist with developing implementation plans as required or requested

At its first meeting the group discussed how it would meet its aims and concluded that 2 sub-groups should be established – a laboratory sub-group and a clinical sub-group.

The lab group will focus on available test methodologies.

The clinical group will focus on information, pathways and workforce requirements.

Both groups met for the first time in March 2023. Their work will continue before the NHS in each UK nation finalises its plans with ministers.

6. Committee rises to the challenge of expanded remit

During the year, 1 April 2022 and 31 March 2023, the UK NSC worked to implement the recommendations of the 4 UK chief medical officers (CMOs) for the committee’s remit to expand to consider proposals for targeted and risk stratified screening as well as population screening.

The CMOs made 9 recommendations in response to the 2019 Review of Adult Screening Programmes in England by Professor Sir Mike Richards, who took up the post of UK NSC chair in 2022.

Widening the remit of the UK NSC enables the committee to consider a much larger range of topics. Targeted screening aims to identify people with a higher risk of a condition beyond demographics such as age or gender. Stratified screening can tailor testing to individual risk.

The expanded remit is one of the most significant developments in the UK NSC’s 27-year history and provides enormous opportunities to benefit healthcare. New definitions, criteria, processes and principles were all developed and published during the year to help the committee meet this challenge.

6.1 Targeted screening clearly defined

Before 2022, targeted screening topics had only been considered by bodies such as the National Institute for Health and Care Excellence (NICE) and the Scottish Intercollegiate Guidelines Network (SIGN).

The UK NSC needed a definition of targeted screening to work from, so it reviewed the literature in collaboration with healthcare consultancy Costello Medical. The findings of this work, published in the Lancet Regional Health Europe, helped finalise the following definition, which could be used by screening policymakers worldwide:

Targeted screening is a nationally delivered proactive screening programme which aims to improve health outcomes in people with the condition being screened for, among groups of people identified as being at elevated/above average risk of a specific condition. Compared to the general population, the people targeted may have higher risk because of lifestyle factors, genetic variants or having another health condition.

This definition potentially covers a very broad range of disease areas, including genetic conditions, infectious diseases and cancers.

6.2 Guidance and principles updated

The UK NSC secretariat has published a new suite of documents that describe how the CMOs’ recommendations are being implemented.

UK NSC processes and principles is a collection of documents that together underpin and explain the committee’s work.

This collection includes the CMOs’ recommendations, the updated UK NSC evidence review process and details of how stakeholders can submit new proposals to the committee under the annual call. It also includes a range of publications describing how the committee will implement its expanded remit, including:

In addition, lung cancer and TYR1 screening task groups have been set up. These groups support the CMOs’ recommendation on screening feasibility: that the UK NSC should set up sub-groups following positive recommendations to assess how a new screening programme, or major modification to an existing programme, might feasibly be introduced.

7. Expert research and methodology group gets down to work

High quality research and evidence underpins the work of the UK NSC and the recommendations it makes to ministers and the NHS in the 4 UK countries.

The 4 UK CMOs emphasised just how important research is for screening when they proposed the UK NSC should set up a new research sub-group. This new group, the research and methodology group (RMG), has been established and is getting to grips with an important and varied workload.

The RMG is chaired by Professor Sian Taylor-Phillips, professor of population health at the University of Warwick, and RMG members have a wealth of experience and expertise covering areas such as health economics, behavioural science, statistics and research synthesis.

The expansion of the UK NSC’s remit has greatly increased the potential volume of screening-related research questions, issues and opportunities for researchers, research funders and industry. One of the RMG’s most important functions will be to provide clarity on the UK NSC’s research requirements so that future screening research is fit for purpose and impactful.

The group will advise on research design more broadly and provide expert input on the research and evidence implications and requirements associated with exciting new technologies such as multi-cancer early detection tests (MCEDs).

It will also help identify the UK NSC’s screening research priorities and research gaps and advise on mechanisms to address them.

8. New group helps advise on newborn blood spot screening

Another new group, the blood spot task group (BSTG), will be working closely with the RMG.

Making newborn screening recommendations on rare diseases is a challenge because evidence is limited. The small numbers involved mean it is often not possible to generate and evaluate evidence using the usual research methods such as randomised controlled trials (RCTs).

The BSTG has therefore been set up to help identify practical and innovative approaches to the development and evaluation of evidence, and the facilitation of research, in newborn blood spot screening.

BSTG members have a wide range of expertise and have started work on several projects that will generate practical outputs to support the UK NSC’s work.

These projects include:

  • comparing newborn screening decision making and implementation practices in the UK with the key principles of the European Organisation for Rare Diseases
  • identifying challenges, opportunities and practical approaches when developing modelling studies for rare diseases
  • describing how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes
  • considering how patient and public experience evidence can be productively incorporated into the UK NSC process for evaluating screening topics

We are publishing summary notes of the BSTG meetings on the UK NSC website.

9. A year of proactive stakeholder engagement

Efforts to enhance stakeholder engagement, as recommended by the CMOs, were at the forefront of the UK NSC’s work during the year.

Stakeholder input is central to creating successful screening policy and its importance is embedded in the UK NSC stakeholder engagement strategy, published in September 2022.

The strategy outlines the committee’s proactive and innovative approach to stakeholder engagement. The UK NSC aims to involve stakeholders at all appropriate stages, both during and between evidence reviews, using different methods to suit the needs of various topics and groups. The strategy also includes a commitment to regularly review stakeholder engagement activities to make sure they are effective, proportionate and fit for purpose.

We engage with stakeholders on a daily basis in a variety of ways, including via the screening information mailbox and through UK NSC blog articles, and are working to increase the committee’s transparency and provide targeted engagement for high priority conditions.

Stakeholders submitted a record number of 30 proposals in response to the UK NSC’s 2022 annual call for topics. Details of these submissions are included later in this report. The secretariat kept individuals and organisations updated on next steps throughout the annual call submission process.

The UK NSC also seeks to engage appropriately with industry in relation to research and technology that could inform its recommendations. This year, it published principles for exchanging ideas and knowledge with commercial organisations and hosted a highly successful information-sharing event on multi-cancer early detection tests, attended by 12 companies from around the world that are at the forefront of this exciting new technology.

There was recognition for the UK NSC’s public engagement activities with the winning of a prestigious national award. The committee jointly commissioned, with Genomics England and UK Research and Innovation’s Sciencewise programme, a public dialogue on the implications of whole genome sequencing (WGS) for newborn screening.

This dialogue won the 2022 Market Research Society (MRS) award for public policy/social research with the judges saying: “Whilst not everyone will agree that this practice should be carried out, the research itself is impressive and sets a new standard for gaining insight in such a controversial area.”

Looking ahead, and building on this year’s achievements, the UK NSC will continue to deliver transparent and effective stakeholder engagement, while scanning the horizon for new opportunities.

9.1 New publication underlines the importance of the patient and public voice

The CMOs recommended that the secretariat should work to further support patient and public voice (PPV) members who sit on the UK NSC and its expert sub-groups.

PPV members bring the perspective of the public to complex discussions on screening issues relating to a huge range of conditions. They inform and improve the work of the UK NSC by providing input during the development of screening evidence products and by helping to make sure recommendations and discussions are communicated in a way that is sensitive and clear.

We have developed and published new guidance, UK NSC: the role of patient and public voice members that underlines the importance of PPVs and strengthens the committee’s support for them. This publication summarises the role of PPV members, why they are needed and how they are recruited.

10. HPValidate study nears completion

Cervical screening helps prevents cancer by detecting abnormalities of the cervix which can be treated before they get a chance to turn into cervical cancer.

The cervical screening test checks for the presence of high-risk human papillomavirus (HPV), which causes nearly all cervical cancers. A health professional takes a sample of cells from the cervix. This is sent to a laboratory to check for high-risk HPV and, if high-risk HPV is found, the laboratory then tests the sample for abnormal cell changes.

However, approximately 3 in 10 women and people with a cervix do not take up the offer of screening. In England, the NHS Cervical Screening Programme currently prevents around 70% of cervical cancer deaths, but it could prevent an estimated 83% if all eligible people attended screening regularly.

It is important to remove barriers to screening attendance where possible and a future option could be for people to take their own sample – a vaginal swab – rather than having a clinician take their sample. A study was set up in 2021 in England as a first step in finding out if vaginal self-sampling could be offered as an alternative option alongside the traditional clinician-taken cervical screening test.

This study, HPValidate, is collecting 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. By the end of March 2023, more than three-quarters of the required samples had been collected.

People participating in HPValidate are invited to take a self-sample as well as the usual clinician-taken sample when they attend their GP practice for cervical screening, or when referred for a follow-up colposcopy examination. The laboratories test both the self-sample and clinician-taken sample for sensitivity (how well the test correctly detects someone with HPV) and specificity (how well the test correctly identifies someone who does not have HPV).

HPValidate is expected to report its final results in December 2023. Several self-sampling devices and laboratories are involved in the study and the data will be analysed to provide a validated HPV self-sampling device and test combination.

This validated combination will be used in an in-service evaluation (ISE). ISEs are used to test proposed new screening programmes or changes to existing ones. They involve a new or updated programme being implemented by NHS providers and data being collected to help answer specific questions on operational impact and effectiveness.

The HPV self-sampling ISE will provide the UK NSC with real-world evidence on the effectiveness of this potential change to the NHS Cervical Screening Programme in England.

There is still some way to go, but the progress with HPValidate means we are a step closer to finding out if HPV self-sampling could be offered as an alternative method, and choice, to people in the UK at some point in the future.

11. SCID evaluation improves screening pathway and addresses important questions

The UK NSC uses ISEs to test proposed new screening programmes or changes to existing ones in real-world services.

Data collected during ISEs help answer specific questions on the operational impact and effectiveness of screening. The results help the committee to make its formal recommendations on screening to ministers and to inform wider policy decisions.

Severe combined immunodeficiency (SCID) is the name for a group of rare conditions that affect the immune system and make it very hard for babies to fight off common infections. Without bone marrow transplant treatment or gene therapy, babies with SCID usually die before they are a year old.

The UK NSC recommended the ISE of newborn screening for SCID. In September 2021, following ministerial approval, the ISE was launched by DHSC and NHS England (NHSE).

The evaluation covers around two-thirds of the newborn population of England. Interim results are encouraging although there is still much work to do.

By the end of March 2023 (19 months into the ISE) an estimated 568,000 babies had been screened for SCID and approximately 390 babies had been referred with abnormal results. Nine of these were found to have SCID. Two of the 9 babies with SCID had already been identified because members of their family were affected, so the remaining 7 were diagnosed early thanks to screening.

While around half of the babies referred did not have any problems with their immune system on further testing, some were found to have other immunological conditions that cause low white blood cell counts.

The ISE is already proving valuable in helping to determine the optimum way to screen for SCID. The NHSE-led evaluation team has already reviewed the data to change the way in which positive screening results are calculated. This has helped reduce the number of false positive results – and associated anxiety for parents – without missing any babies with SCID.

The final data from the evaluation will help answer questions about the effectiveness of NHS screening for SCID in England compared to the way babies are detected without screening.

These questions include:

  • how many babies are born each year with SCID
  • how well babies get on if they are diagnosed early
  • how long babies found by screening stay in hospital if they are diagnosed early
  • the percentage of SCID babies who would be diagnosed because they have an affected family member
  • the impact of screening on families – for example, how worried they are, how many babies need more tests, how many other conditions are detected and is that beneficial, and how many babies have unnecessary tests and treatments
  • the ability of NHS services to deliver screening, including workforce implications for specialised teams
  • the performance of different tests
  • the cost of the test

When the evaluation is complete, the NHSE-led ISE team will submit a report to the UK NSC. The committee will review that report, take the advice of its newborn screening experts and consult for 3 months before making a recommendation to ministers on whether SCID should become part of the NHS Newborn Blood Spot Screening Programme in the UK.

12. Evaluative roll-out of NIPT in the NHS

On 1 June 2021, non-invasive prenatal testing (NIPT) was added to the existing NHS screening programme pathway for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome in England.

The NIPT blood test is a second screening test offered to pregnant women whose initial combined or quadruple screening test result shows that their chance of having a baby with one of these 3 conditions is greater than 1 in 150. Women who receive an initial higher chance result can now choose between no further testing, NIPT or prenatal diagnosis.

Following a positive UK NSC recommendation, NIPT was introduced into the screening programme as an ‘evaluative roll-out’. This involves carefully monitoring how it performs in the NHS in England so that the screening pathway and processes can be amended and improved where required. Data is being collected so we can understand acceptability and improve the pathway if needed.

The evaluative roll-out of NIPT has 3 arms:

  1. The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) supports the roll-out. NCARDRS collects data on congenital anomalies across England, including from biochemistry screening laboratories, NIPT testing laboratories and cytogenetic laboratories.
  2. Data is collected directly from maternity services.
  3. NIPT information for parents in the Screening Tests for You and Your Baby leaflet and additional higher chance information resources will be evaluated.

12.1 Initial results

Data from 1 January to 30 December 2022 shows:

  • around three-quarters of the women with a higher chance combined or quadruple test chose to have a NIPT screening test
  • 97% of women with a higher chance or a no result NIPT result attended an appointment within 3 days to discuss their results

Between 1 June 2021 and 30 September 2022 nearly 15,000 NIPT samples were tested across the 3 NIPT screening laboratories. About a fifth of NIPT tests followed a higher chance quadruple test and the rest followed a higher chance combined test result.

A result was reported for 96% of these 15,000 samples. 86% of NIPT results were reported within 5 days. 7% of NIPT samples tested were reported as being higher chance results for one or more of the 3 conditions.

12.2 Next steps

The NIPT evaluative roll-out team is now focusing on:

  • developing a specification to evaluate the information provided for parents
  • working with NCARDRS to progress plans for the linkage of screening data to diagnostic testing data and birth outcomes so that the performance of the NIPT test in this population can be evaluated
  • responding to feedback and making changes to the pathway as required

13. Big challenges and opportunities in evaluating the evidence for using multi-condition tests in screening

The UK NSC only makes a positive recommendation for a screening programme if reassured by evidence that screening will do more good than harm at reasonable cost.

Before making any recommendation, the committee uses a range of criteria to assess the evidence and determine if screening would be safe, viable, effective and appropriate. It regularly reviews evidence for more than 100 conditions.

It has usually approached this task systematically, one condition at a time. The advent of multi-condition tests, some of which can look for signs of more than 50 different diseases, presents the UK NSC with a major but exciting new challenge.

13.1 Working through the big questions on multi-cancer early detection tests

Multi-cancer early detection tests (MCEDs) hold out the hope of detecting dozens of cancers before symptoms emerge and at a stage when treatment is likely to be more effective. If evidence proves the use of MCEDs in screening would reduce cancer-specific mortality and morbidity and improve quality of life, then they would represent a significant public health advance.

The UK NSC received a fascinating insight into the potential of MCEDs, and the variety of technologies and scientific approaches behind them, when it hosted a commercial information-sharing event in February 2023.

Twelve companies from around the world had confidential 2-way conversations with the UK NSC where they each presented a brief outline of their product, its stage of development, technology and scientific approach.

This gave the committee a glimpse of the remarkable scientific advances that may eventually lead to exciting developments in the UK’s cancer screening programmes.

However, screening harms, such as over diagnosis, over treatment, false positive and false negative results, all have the potential to be multiplied many times when a single test looks for multiple conditions. The UK NSC therefore needs to proceed with care and has started to consider and understand some of the fundamental overarching unanswered questions about MCEDs.

For example, just how should the committee evaluate the case for MCEDs? Ideally the benefits of screening need to clearly outweigh the harms for all cancers included in a test, but that might take a long time. Is there a level of evidence the UK NSC could use to start with and what arrangements might it need so that it can continue to evaluate and update policy over the years and decades to come?

What impact might the use of MCEDs in screening have on health services? If many more healthy people receive worrying screening results, would this create significant additional pressure on GP appointments and diagnostic waiting lists?

How should the UK NSC measure the usefulness and acceptability of some possible MCED test results? What if an MCED detects a condition for which there is little evidence of a good treatment? Or, what if it finds the presence of one of the 3 cancers the established NHS programmes already screen for – could that cause confusion or reduce confidence in the existing programmes?

How well would the tests predict disease that would cause symptoms? What additional tests might be needed after positive results to confirm the presence of a cancer. And how would MCEDs be implemented in screening in the real world? Cost effectiveness, acceptability, practicality, feasibility and affordability would all need to be considered.

The RMG is leading the UK NSC’s work to understand all these questions. Its work will inform any future screening recommendations relating to MCEDs and provide clarity for stakeholders on this important new area.

13.2 UK NSC public engagement on whole genome sequencing wins prestigious award

The UK NSC is also looking at how to assess the potential use of whole genome sequencing (WGS) technology in newborn screening.

Genomics England’s Newborn Genomes Programme is sequencing the genomes of up to 100,000 babies shortly after they are born. This research study aims to identify a specific set of genetic conditions which the NHS could act upon before babies begin to show symptoms. The evidence it collects could help determine if WGS could be rolled out across the country and used in newborn screening.

The UK NSC needs to carefully consider the potential benefits and harms, as well as the practical and ethical challenges, of implementing WGS in screening. To do this, it is also crucial that it understands and considers the views and values of the public in relation to WGS, and to newborn screening.

For this reason, the UK NSC partnered with Genomics England and UK Research and Innovation’s Sciencewise programme to commission a public dialogue on the implications for the NHS and for society of using WGS for newborn screening. This dialogue won the 2022 Market Research Society (MRS) award for public policy/social research.

The committee is also now commissioning, via the NIHR Evidence Synthesis Programme, a review of the benefits and harms of WGS in newborn babies.

This work will help make sure that any future UK NSC recommendations on the use of WGS in newborn screening are clearly led by the evidence.

14. Experts discuss models for personalised breast screening based on risk

Breast screening reduces the number of deaths from breast cancer by finding signs of disease at a stage when treatment is likely to be more effective.

Women are currently invited for breast screening every 3 years from the age of 50 to 70. But it might be possible to improve the breast screening programme’s balance of benefits over harms if this one-size-fits-all screening model was replaced with one based on an individual’s relative risk of breast cancer.

This process of dividing a population into groups based on relative risk is known as risk stratification.

The NHS Breast Screening Programme already uses some risk stratification by offering additional screening for people with certain genes (BRCA1, BRCA2 or TP53), or with an identified family history of breast cancer. More risk stratification could open the possibility of changing:

  • the ages women are invited
  • how often women are invited
  • what screening tests are offered

The UK NSC this year organised an event for researchers to present work on risk stratification modelling in breast screening.

The presentations covered a variety of risk factors and prompted a wide ranging and thought-provoking discussion. There was plenty of discussion about the possibilities offered by risk stratification for more, or less, screening, and how this might be received by women who are told the frequency of their screening invitations could change.

There are some fascinating questions for the UK NSC to consider, including:

  • what exactly goes into making a good screening model?
  • how do you assess and choose a risk assessment tool, or tools?
  • how acceptable would it be to change the frequency of breast screening?
  • what is the potential impact on screening inequalities?

The UK NSC now needs to find a way to compare these risk stratification models despite the large variation in what these models look at, how they are put together, and their findings.

As ever, there is a lot more work to be done and the UK NSC is keen to learn more.

15. Work starts on reviewing the case for screening for SMA

About 70 babies are born in the UK each year with the genetic disease spinal muscular atrophy (SMA).

SMA is a genetic condition that affects the nerves in the spine which transmit instructions from the brain to the muscles that control the ability to move, speak, swallow and breathe. It is a serious condition that causes progressive muscle weakness and loss of movement.

There have been significant developments since the UK NSC last recommended not to screen for SMA in 2018. These developments include that several drugs can now be prescribed for some forms of SMA on the NHS under different arrangements in England and Scotland.

The UK NSC this year embarked on a new project to review the case for screening for SMA as part of the newborn blood spot screening programme.

The project has 3 objectives:

  • Objective 1: conduct a review of available decision analytic modelling studies and cost effectiveness evaluations which address newborn screening for SMA in the era of new treatments
  • Objective 2: develop an evidence map to gauge the volume and type of published studies and evaluations of polymerase chain reaction (PCR) based screening and treatment in pre-symptomatic SMA
  • Objective 3: propose (scope) a plan for a future modelling study with clinical and cost effectiveness outcomes

The UK NSC commissioned the School of Health and Related Research (ScHARR) to carry out this work and is engaging closely with key stakeholders.

Work on objectives 1 and 2 has progressed well and stakeholders will play an active role in workshops as part of the model scoping part of the project.

16. 2022 annual call for topics

The UK NSC received a record 30 submissions to its 2022 annual call for topics following its expansion to allow targeted and risk stratified screening proposals as well as submissions for new population screening topics, programme modifications and early updates.

This is by far the most submissions it has received in a single year since the annual call process started in 2016. The proposals included 15 targeted screening topics.

After careful consideration, the committee agreed that 19 of the submissions fell within its remit and would benefit from more work under 11 combined workstreams.

16.1 Submissions in scope (work to be commissioned)

Anal cancer

It was agreed that this fell within the UK NSC remit and had not been considered before. The committee agreed that this topic would benefit from further consideration and that an evidence map should be commissioned.

Breast screening – 3 proposals

  1. Programme modification proposal including use of risk stratification considering breast density. This submission proposed:
    • introducing risk assessment at screening appointments, including a breast density assessment
    • changing the frequency of screening, depending on breast density
    • making use of 3D mammography tomosynthesis (TM) in screening
    • mandating that a woman’s risk profile is captured in her patient record and updated at each appointment
  2. Programme modification proposal to offer women with extremely dense breast tissue screening with breast magnetic resonance imaging every 2 to 4 years
  3. Targeted screening proposal for screening of women assessed as moderate and high risk of breast cancer

It was agreed that these proposals fell within the UK NSC remit. The committee agreed that they would benefit from further consideration and would be considered as part of wider work on breast screening risk stratification.

Cervical screening programme modification on technology

This submission by a commercial organisation proposed replacing cytology screening in HPV positive women test with a triage test that allows clinicians to determine which women who are found to be HPV-positive require further diagnostic procedures. It was agreed that this fell within the UK NSC remit and had not been considered before. The committee agreed that this topic would benefit from further consideration as part of its wider work on cervical screening.

Fragile X syndrome in newborns

It was agreed that this fell within the UK NSC remit. The committee agreed that this topic would benefit from further consideration and that an evidence map should be commissioned.

Heart valve disease (HVD)

It was agreed that this fell within the UK NSC remit and had not been considered before. The committee agreed that this topic would benefit from further consideration and that an evidence map should be commissioned.

Human T-cell lymphotropic virus types 1 and 2 ( HTLV-1 and HTLV-2) targeted screening – 2 separate submissions

It was agreed that these submissions fell within the UK NSC remit and had not been considered before. The committee agreed that this topic would benefit from further consideration.

Lynch syndrome screening in people with colorectal cancer

It was agreed that this fell within the UK NSC remit and had not been considered before. The committee agreed that this topic would benefit from further consideration and that an evidence map should be commissioned.

Preterm birth early update

It was agreed that this fell within the UK NSC remit. The committee agreed that this topic would benefit from further consideration and that an evidence map should be commissioned.

Prostate cancer screening – 6 submissions

  1. Targeted screening proposal using prostate specific antigen (PSA) testing and high-risk factors, such as family history and ethnicity, to screen for prostate cancer
  2. Proposal to offer targeted screening for carriers of the BRCA2 gene
  3. Population and risk stratified proposal for a national programme based on the PSA test for all men aged 45 to 70, with frequency of testing stratified by individual risk calculated from an initial, normal PSA, age, ethnicity and family history, initially yearly for high-risk men and 3 to 5-yearly for low-risk men. Men with an abnormal PSA would be referred according to current 2-week wait and NICE criteria for mpMRI prostate scanning.
  4. Proposal for targeted screening of Black men aged 45 to 70.
  5. Targeted screening proposal to screen men between 50 and 69 with a Charlson co-morbidity index (less than or equal to 3) using the Stockholm3 blood test
  6. Targeted screening proposal to screen men aged 45 to 70 who have a first-degree relative diagnosed with prostate, breast or ovarian cancer (relevant family history).

It was agreed that these proposals fell within the UK NSC remit. The committee agreed that they would benefit from further consideration and would be considered together as part of wider work on prostate cancer screening risk stratification.

Urea cycle disorder

It was agreed that this fell within the UK NSC remit and had not been considered before. The committee decided this topic would benefit from further consideration and that an evidence map should be commissioned.

Vasa praevia

It was agreed that this fell within the UK NSC remit. The committee had already commissioned an evidence map to review the evidence on screening for this condition and opened a public consultation on its findings in March 2023.

16.2 Submissions out of scope or not enough evidence to follow up

Acute myeloid leukaemia (AML)

It was agreed that there was not enough published evidence for the UK NSC to follow up this proposal at this time. Specifically, the group felt more evidence was needed on test performance and how eligible individuals would be identified for screening.

Bowel cancer screening programme modification: development of information leaflet on risk modifiers for condition

It was agreed that this fell outside the UK NSC’s remit. The NHS in the 4 UK nations is responsible for the information provided to individuals when they are invited for screening. The submission was shared with NHS England to follow up.

Breast screening programme modification: development of information leaflet on risk modifiers for condition

It was agreed that this fell outside the UK NSC’s remit. The NHS in the 4 UK nations is responsible for the information provided to individuals when they are invited for screening. The submission was shared with NHS England to follow up.

Cervical screening programme modification using digital cytology

After careful consideration, it was decided that this proposal was not within scope for the UK NSC at this time as that the committee would need to see more published evidence.

Chronic kidney disease

After careful consideration, the committee agreed that this proposal should be covered by existing NICE guidance as it represents onward management of people with pre-existing conditions. However, the UK NSC will explore the proposal further if there is evidence of poor implementation of and adherence to NICE guidance.

Congenital cytomegalovirus (CMV)

After careful consideration, it was agreed that this proposal fell out of scope for the UK NSC at this time and that there may need to be more primary research and long-term studies into CMV screening. The UK NSC will continue to keep abreast with international research on this topic.

Diabetic eye screening – use of optical coherence tomography (OCT)

It was agreed that this fell outside the UK NSC remit because it would represent a minor programme modification, rather than a major modification. It should therefore be pursued instead via the NHS in the 4 nations.

Fetal anomaly screening programme modification

This submission proposed adding a new technology for non-invasive prenatal testing that does not use sequencing or polymerase chain reaction (PCR) technology. The UK NSC decided that it would need to do more work to determine if this proposal falls within its remit to consider as a programme modification. The committee requested further information.

Multiple sclerosis (MS)

It was agreed that this fell outside the UK NSC remit. Following discussion with colleagues at the National Institute for Health and Care Excellence (NICE), the committee suggested that the sponsor of the proposal should instead approach an appropriate professional organisation to discuss the proposal in more detail and to gather more evidence for a possible submission to NICE

It was agreed that this fell outside of the UK NSC remit because affected individuals would already be identified and managed under existing clinical management care.

Wet AMD using OCT

It was agreed that this fell outside the UK NSC remit because individuals would already be identified and under existing clinical management care.

17. 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.

17.1 Screening for autism spectrum disorder in pre-school under the age of 5 years (evidence summary)

The condition:

Autistic spectrum disorder (ASD) is a term for a group of disorders, which includes autism and Asperger syndrome. ASD affects how a person communicates with others. It also affects how a person relates to the world around them. The word ‘spectrum’ is used because the conditions affect different people in different ways. Those with autism may also have a learning disability.

UK NSC recommendation:

After reviewing the evidence for population screening for autism on several occasions, the UK NSC recommended not to do another routine evidence review and to archive this topic.

Reasons:

There is not a test that is good enough for screening the general population and it is not known if screening would improve long term outcomes for children with autism.

17.2 Screening for HTLV in antenatal period

The condition:

Human T-lymphotropic virus type 1 (HTLV1) is a retrovirus (like HIV) which affects the immune system. It is associated with certain leukaemia and lymphoma.

UK NSC recommendation:

After reviewing the evidence for population screening for HTLV in pregnancy on 4 occasions, the UK NSC did not find enough published information to support a recommendation for screening. The UK NSC recommended not to do another routine evidence review and to archive this topic.

Reasons:

Universal screening for HTLV infections in pregnancy is not recommended because there is not enough evidence to show screening would do more good than harm. This is primarily because a UK analysis highlighted concern about the potentially negative effect of maternal HTLV diagnosis on quality of life. This was considered critical when balanced against the potentially limited ability of screening to prevent adverse health outcomes associated with mother to child transmission of the infection.

17.3 Screening for iron deficiency in children

The condition:

Anaemia is a condition that occurs when there is a lack of red blood cells in the body. There are several types of anaemia and the most common is known as iron deficiency anaemia. This is where the body lacks enough iron to keep the red blood cells functioning properly.

UK NSC recommendation:

After reviewing the evidence for population screening for iron deficiency anaemia in children on several occasions, the UK NSC did not find enough published information to support a recommendation for screening. The UK NSC recommended not to do another routine evidence review and to archive this topic.

Reasons:

There is a lack of evidence that low levels of iron in the blood causes children under the age of 5 to develop at a slower rate than expected.

The current screening test involves taking a blood sample. This can be distressing for the child.

Some children can have iron deficiency anaemia without being ill. The benefit of treating these children is unclear.

17.4 Targeted lung cancer screening in people aged 55 to 74 years with a history of smoking (evidence summary and interim cost effectiveness)

The condition:

Lung cancer is one of the most common types of cancer in the UK and worldwide. Around 48,000 people are diagnosed with lung cancer and about 35,000 people die from the disease every year in the UK. Smoking is the most common cause of lung cancer. Other causes include passive smoking and exposure to certain gases and chemicals.

UK NSC recommendation:

Following a review of the evidence the UK NSC recommended a targeted screening programme for lung cancer in people aged 55 to 74 years with a history of smoking

Reasons:

Evidence shows that screening with low-dose computed tomography:

  • reduces lung cancer mortality
  • is acceptable to patients and professionals if adequately resourced and quality assured

17.5 Screening for the prevention and prediction of pre-eclampsia

The condition:

Pre-eclampsia is a complication which affects mothers. It occurs during the second half of pregnancy, labour or the first few days after birth. It involves high blood pressure and too much protein in the urine.

UK NSC recommendation:

Following a review of the evidence, the UK NSC restated its position not to recommend screening for the prevention and prediction of pre-eclampsia.

However, the UK NSC will investigate the harms and benefits of introducing a population screening programme for pre-term pre-eclampsia, the more severe form of the condition.

Reasons:

Screening for all pre-eclampsia and term pre-eclampsia is not recommended because there is:

  • no test that is reliable at predicting mothers who will develop pre-eclampsia in these populations
  • not enough evidence for a treatment to prevent term pre-eclampsia in mothers at risk

There may be enough evidence to support screening for pre-term pre-eclampsia because there is evidence:

  • to support a possible screening test in this population that uses maternal risk factors together with results from prenatal ultrasound and blood
  • from one good quality trial that a low dose (150 mg) of aspirin given from 11 to 14 weeks of pregnancy until 36 weeks is safe, and can reduce the risk of developing preterm pre-eclampsia in mothers shown to be at risk

17.6 Screening for tyrosinaemia in newborns

The condition:

Tyrosinaemia type 1, or TYR1, is a very rare genetic condition. It prevents the body from breaking down a substance called tyrosine found in food. This leads to the build-up of toxic levels of substances in the blood. If left untreated, TYR1 can damage the liver, kidneys and the nervous system.

UK NSC recommendation:

Following a review of the evidence the UK NSC recommended a population screening programme for tyrosinaemia in newborns

Reasons:

A modelling study compared newborn screening for TYR1 with current practice in the UK.

This estimated the main benefits of screening to be:

  • a reduction in the number of babies with TYR1 who experience severe liver disease in the early months of life
  • potentially, a reduction the number of babies with TYR1 who need a liver transplant in later life

18. UK NSC membership

18.1 Chair

Professor Sir Mike Richards.

18.2 Vice-chair

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

18.3 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.

18.4 Observers

June 2022

Prof Niall O’Higgins – Chair of the National Screening Advisory Committee, Ireland

Evette Wade – Republic of Ireland

Kate O’Flaherty – Republic of Ireland

Nick Hicks – National Co-ordinating Centre for Health Technology Assessment (HTA)

Roberta James – Programme lead, Scottish Intercollegiate Guidelines Network (SIGN)

Dr Sarah Byron – Centre for Health Technology Evaluation (CHTE) Programme Director, National Institute for Health and Care Excellence (NICE)

Martin Allaby – Consultant in Public Health and Evidence-based Healthcare, NICE

Deborah Tomalin – Director of Public Health Commissioning and Operations, NHSE

Professor Steve Powis – National Director, NHSE

Ciaran Osbourne – Transformation Lead, Early Diagnosis Programmes (Cancer), NHSE

Dr Meng Khaw – Public Health Director, Public Health Wales

Gareth Brown – Director of Screening, NHS National Services Scotland

Dr Tracy Owen – Consultant in Public Health Public, Health Agency Northern Ireland

Professor Zosia Miedzybrodzka – Clinical Lead of the Scottish Genomics Network

November 2022

Evette Wade – Republic of Ireland

Nick Hicks – National Co-ordinating Centre for HTA

Dr Sarah Byron – CHTE Programme Director, NICE

Martin Allaby – Consultant in Public Health and Evidence-based Healthcare, NICE

Deborah Tomalin – Director of Public Health Commissioning and Operations, NHSE

Dr Tracy Owen – Consultant in Public Health, Public Health Agency Northern Ireland

Professor Zosia Miedzybrodzka – Clinical Lead of the Scottish Genomics Network

Clare Walker – Isle of Man

Prof Peter Bradley – Government of Jersey

Nicola Brink – State of Guernsey

March 2023

Evette Wade – Republic of Ireland

Rebecca Albrow – NICE

Deborah Tomalin – Director of Public Health Commissioning and Operations, NHSE

Professor Steve Powis – National Clinical Director, NHSE

Professor Zosia Miedzybrodzka – Clinical Lead of the Scottish Genomics Network

Clare Walker – Isle of Man

Nicola Brink – State of Guernsey

Diane Matthews – State of Guernsey

Elizabeth Luckett – Senior Screening & Immunisation Manager NHSE South West

18.5 Invitees

June 2022

Dr Julia Geppert – Research Fellow at University of Warwick (attendance for tyrosinaemia)

Peter Auguste – Research Fellow in Health Economics at University of Warwick

March 2022

Nadia Permalloo — NHSE

Dave Wright — NHSE

UK Health Department officials

Daniel Gascoigne – DHSC (stepped down in December 2022)

Ray Smith – DHSC (joined in January 2023)

Nimisha De Souza – DHSC

Amy Redhead – DHSC (joined in October 2022)

Dr Heather Payne – Senior Medical Officer for Maternal and Child Health, Welsh Government

Peter Jones – Welsh Government

Helen Tutt – Welsh Government

Laura McGlynn – Scottish Government

Dr Tasmin Sommerfield – Clinical Advisor, National Screening Oversight (NHS Scotland)

Angela Timoney – Scottish Government

Chloe Kelly – Scottish Government

Dr Carol Beattie – Northern Ireland

Lisa Cromey – Northern Ireland

18.6 UK NSC Secretariat

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

Dr David Elliman — Clinical lead for NHS Newborn and Infant Physical Examination Programme and NHS Newborn Blood Spot Screening Programme

John Marshall – UK NSC Evidence Lead

Anne Stevenson – National Lead for Screening Feasibility, Evaluation and Development

Jo Harcombe – National lead, informed choice, professional development and stakeholder engagement

Dr Cristina Visintin – UK NSC Senior Evidence Review Manager

Silvia Lombardo – UK NSC Evidence Review Manager

Dr Farah Seedat – UK NSC Evidence Review Manager (stepped down in October 2022)

Paula Coles – Senior Information Scientist (stepped down in November 2022)

Rebecca Dliwayo — UK NSC Evidence Review Manager (joined in August 2022)

Mike Harris – Head of UK NSC public and professional engagement, information and knowledge

Zeenat Mauthoor — Secretariat Expert Committee and Policy Liaison Manager

Dexter Berridge — Stakeholder Engagement and Information Officer

Fabrice Lafronte — UK NSC secretariat support officer

Back to top