Corporate report

Screening in the UK: making effective recommendations 1 April 2021 to 31 March 2022

Published 28 February 2023

Between 1 April 2021 and 31 March 2022 the UK National Screening Committee (UK NSC):

• held 3 virtual meetings

• moved its secretariat function from Public Health England (PHE) to the Department of Health and Social Care (DHSC)

• formally adopted evidence maps as the first step in the UK NSC evidence review process

• considered one programme modification proposal

• made 9 screening recommendations

• archived one screening topic

• took one chair’s action from the 2020 annual call screening topic proposals

• received 4 submissions for consideration under the 2021 annual call for topics

• launched its new website

• worked with NHS England and NHS Improvement (NHSEI) (subsequently NHS England (NHSE) following their amalgamation) to start 2 in-service evaluations in England

1. Highlights

1.1 In-service evaluations

In-service evaluations are used to test proposed new programmes or changes to existing ones. They involve the new or updated programme being implemented by NHS providers. During this time, data is collected to help answer specific questions on its operational impact and effectiveness.

They are designed with academic support to ensure the conduct of the study and the findings are robust enough to support the UK NSC in making formal recommendations to ministers. The results of in-service evaluations are used to support the UK NSC in making recommendations and to inform wider policy decisions.

On 1 June 2021, non-invasive prenatal testing (NIPT) was added to the existing NHS screening programme for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome in England. NIPT can now be offered to women who receive a higher chance result from a combined or quadruple test and data is being collected to see how it affects the NHS screening pathway. The UK NSC is working closely with the evaluation team so that a change in policy recommendation can be considered if necessary.

On 6 September 2021, an in-service evaluation was launched into adding severe combined immunodeficiency (SCID) to the conditions covered by the NHS Newborn Blood Spot Screening Programme in England. The evaluation covers two-thirds of the country. Results from the evaluation will be analysed and will inform whether SCID should become part of the national programme.

1.2 Ethics and the UK NSC

Decisions about any kind of NHS screening programme have an ethical element. Would the benefits of screening outweigh the harms? Would it be a fair use of public resources? How can we ensure people have a genuine choice about whether to have screening or not? Have we made the decision in an ethical manner?

The ethical acceptability of screening is one of the UK NSC criteria for assessing the viability, effectiveness and appropriateness of a screening programme. 

In August 2021, the UK NSC published its ethical framework for screening. This framework:

• helps describe exactly what the committee’s ethical principles are

• makes it easier to understand the overarching goals of screening

• helps guide decisions about screening.

The ethical framework for screening consists of 4 broad principles:

1. Improve health and wellbeing

2. Treat people with respect

3. Promote equality and inclusion

4. Use public resources fairly and proportionately

An analysis of the ethical issues raised by child-family cascade screening for familial hypercholesterolemia (FH) was carried out by an ethics task group set up by the UK NSC. This group included members with expertise in ethics, paediatrics, clinical genetics, sociology, primary care and public health and a patient representative. The purposes of this work included to:

• inform future UK NSC recommendations on childhood or child-family cascade screening programmes for FH

• test out the new ethical framework and ethical analysis process

1.3 UK NSC stakeholder engagement review

Screening programmes can only work effectively if they are acceptable. Stakeholder involvement is important for understanding if policy recommendations, and the screening programmes that may follow, are acceptable and therefore likely to be taken up by the public and delivered by health care staff.

In January 2022, the UK NSC published the results of user research looking at how it engages with stakeholders and members of the public in its work. The findings of this stakeholder engagement review will inform a UK NSC stakeholder engagement strategy that will build on existing engagement activities.

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

The UK NSC and Genomics England commissioned a public dialogue on the implications of whole genome sequencing (WGS) for newborn screening with support from UK Research and Innovation’s Sciencewise programme.

The findings of the dialogue were published in full in July 2021. Participants were supportive of the potential use of WGS for newborn screening if:

• the conditions impact the infant in early childhood

• there are treatments and interventions to cure, prevent, or slow progression of the conditions

Participants in the dialogue expected proper consideration to be given to designing and planning any future use of WGS technology. This should include involving the public in integration of the technology into any future research or newborn screening and ensuring appropriate resources, investment and safeguards are in place.

1.5 Launch of the new UK NSC website

The new UK NSC website launched on 17 May 2021.

The website:

• includes regular news and features

• highlights the roles and experience of committee members

• makes it easy to browse the UK NSC’s recommendations, and find and respond to consultations

• allows people to subscribe to topics they are interested in so they will never miss out when the committee starts reviewing a condition

The UK NSC also launched a blog to provide up to date news from the committee. People can register to receive updates direct to their inbox.

1.6 Work on proposed modification to sickle cell screening pathway

The UK NSC held 2 workshops as part of its work to consider a proposed modification to the antenatal sickle cell screening pathway.

This work is looking at how modelling methods could be used to assess the impact of adding the offer of NIPT as an additional step in the screening pathway, after the current blood test and before an invasive diagnostic test.

Modelling uses mathematical methods to predict the costs and health effects (or health outcomes) of one intervention compared to another, based on the best available evidence. The model under discussion will aim to find out how good the NIPT test would need to be in order to replace the current strategy of testing fathers in the screening pathway.

The model will be used to inform a sample size calculation for the study that is looking into adding NIPT to the sickle cell screening pathway.

1.7 Workshops

Other UK NSC workshops held during the year included ones relating to:

• prostate cancer (presentation of models from the Comparison Arm for ProtecT (CAP) study and Sheffield)

• the cost effectiveness model for targeted lung cancer screening

• spinal muscular atrophy (SMA)

The aim of the SMA workshop was to:

• stimulate a discussion on issues relating to SMA screening

• consider recent developments relating to SMA treatment and screening tests

• help the UK NSC plan its next steps for reviewing the case for screening for SMA

2. 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 evidence using its criteria for appraising the viability, effectiveness and appropriateness of a screening programme.

2.1 AI in diabetic eye screening: programme modification proposal

The condition

Diabetic retinopathy is damage to blood vessels that nourish the retina in the back of the eye. This is more common in people with diabetes. Damage to these vessels causes blood to leak (haemorrhage) into the retina or other parts of the eye. This can seriously affect vision and may cause blindness.

Proposed modification

To use artificial intelligence (AI) systems to automatically read and grade diabetic eye screening images, and potentially reduce the workload of the diabetic eye screening programme.

UK NSC recommendation

The UK NSC recommended that further research was needed on how accurate the tests are in newer versions of automated retinal image analysis systems (ARIAS), clinical utility and cost-effectiveness in the UK context before it could make a decision on the proposal to modify the programme using ARIAS.

Reasons

Although AI systems are available which are accurate enough to do the initial reading of images, there is:

• only limited evidence that it provides better health and value for money when compared to manual grading

• a need to find out more about the potential social and ethical implications of using AI systems in the screening programme

The UK NSC is commissioning an evidence review to consider the ethical implications of implementing AI-based technologies for medical image classification in screening. These implications could include impacts on human autonomy and accountability, and whether the use of AI might lead to inequalities in screening access, uptake or accuracy between different populations.

This work will help determine if using AI in diabetic eye screening would meet the UK NSC criterion for a screening programme that there ‘should be evidence that the complete screening programme (test, diagnostic procedures, treatment/ intervention) is clinically, socially and ethically acceptable to health professionals and the public’.

2.2 Iron deficiency anaemia in pregnancy

The condition

Anaemia is a condition caused by a lack of red blood cells. This causes weakness, breathlessness and reduced energy. It is quite common during pregnancy when a woman needs more iron and other vitamins.

UK NSC recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for iron deficiency anaemia (IDA) in pregnancy.

Reasons

A population screening programme for IDA in pregnant women is not recommended because:

• it is not clear if pregnant women with mild to moderate IDA will benefit from treatment

• there is a lack of evidence on benefits and harms associated with screening for IDA

2.3 Gestational diabetes

The condition

Diabetes mellitus is a condition in which the amount of glucose (sugar) in the blood is too high. In pregnancy this can lead to problems for the baby.

UK NSC recommendation

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

Reasons

The UK NSC does not currently recommended screening for gestational diabetes because:

• there is lack of evidence that the benefits of screening outweigh the harms

• a screening test that is accurate enough, and would be safe for everyone, has not been identified

• the evidence is uncertain about when women would need further treatment after the screening test

2.4 Alcohol misuse

The condition

Alcohol misuse is when someone drinks alcohol in a way that is harmful, or when they are dependent on it. This can lead to a range of risks such as accidents and injuries and serious health conditions including heart disease, stroke, liver disease, pancreatitis and various types of cancer.

Recommendation

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

Reasons

There is no suitable test for population screening and there is insufficient evidence that screening would be effective in reducing long-term harm to people from alcohol misuse.

2.5 Congenital adrenal hyperplasia

The condition

Congenital adrenal hyperplasia (CAH) is the name given to a group of inherited conditions where the adrenal gland is larger than usual and there is a reduced production of the cortisol hormone. Low levels of cortisol can cause symptoms such as fatigue, muscle weakness, nausea, vomiting and low blood pressure. Left undiagnosed and untreated, CAH can cause high morbidity and mortality.

CAH is commonly categorised into severe (classic) or mild (non-classic) forms. The severe form is usually detected at birth or in early infancy. The milder form is not usually noticed at birth, and symptoms do not tend to appear until later in life. People with the milder form may have early puberty and problems with infertility.

Recommendation

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

Reasons

Newborn blood spot screening for CAH is not recommended because:

• aspects of the condition remain unclear, for example at what point children with CAH develop symptoms

• evidence suggests that some children would present with symptoms before the results of their screening tests would be available in the UK, and therefore they may not benefit from screening

• current tests are not accurate enough and may miss babies with CAH (false negatives) or tell parents their baby has CAH when they do not (false positive)

2.6 Duchenne muscular dystrophy

The condition

The muscular dystrophies are a group of genetic disorders that cause progressive weakness. Some are severe and limit life expectancy while others are relatively mild.

Recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for Duchenne Muscular Dystrophy (DMD).

Reasons

A suitable or reliable population screening test for newborns has not been identified.

There is lack of evidence that screening and early treatment would improve the long-term health of babies.

2.7 Biotinidase deficiency in newborns

The condition

Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Symptoms start gradually and can build up over time. Left untreated, biotinidase deficiency can cause health problems such as seizures, muscle weakness (hypotonia), problems with controlling body movements (ataxia), developmental delay and problems with vision and hearing.

UK NSC recommendation

Following a review of the evidence, the UK NSC does not currently recommend screening for biotinidase deficiency in newborns.

Reasons

It is not known how many people in the UK have the condition and only limited evidence (not from the UK) was found on a range of different screening tests.

2.8 Cytomegalovirus

The condition

Cytomegalovirus (CMV) is a common virus which can cause mild flu-like symptoms. It is more serious if a woman catches it for the first time while she is pregnant as she may pass it on to her baby.

If a baby is born with the CMV infection, this is called congenital CMV (cCMV). A small proportion of affected babies are seriously affected by long term problems such as hearing loss.

UK NSC recommendation

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

Reasons

Screening is not recommended because:

• it is not clear if tests reliably show which babies with cCMV will suffer long-term health problems

• it is likely that screening will find a larger number of babies with the infection who will not have problems than those who will

• evidence is too limited to be sure that early treatment following screening leads to better outcomes than later treatment after symptoms

• it is not clear what is the best way of treating children who do not have symptoms

2.9 Thyroid disease in adults

The condition

Thyroid disease is a condition in which the thyroid gland does not function properly. There are 2 types of thyroid disease – hyperthyroidism and hypothyroidism – when the body produces too much and too little thyroid hormone respectively. Thyroid dysfunction is associated with other health problems which include increased risk of heart disease, decreased bone density, and stroke.

UK NSC recommendation

Following a review of the evidence, the UK NSC does not recommend screening for thyroid disease in adults.

The UK NSC recommended not to do another routine evidence review and to archive this topic. The UK NSC will reopen this topic if new evidence becomes available that is likely to have a significant effect on the recommendation. Stakeholders can also submit an annual call proposal for the UK NSC to reopen this topic if new evidence becomes available.

Reasons

Screening for thyroid disease in adults is not recommended because:

• management of this condition is covered by routine clinical guidance from the National Institute for Health and Care Excellence (NICE)

• there is no agreement on what a normal level of thyroid hormone is

• there is no cut-off point where health professionals agree that treatment is needed

• there is a lack of evidence on the outcomes of treatment for various forms of thyroid disease

• the evidence suggests no substantial benefit of treatment for early-stage hypothyroidism, where levels of some thyroid hormones are still normal

2.10 AI in breast screening

The UK NSC held a consultation on the use of AI for image analysis in the NHS Breast Screening Programme.

The review concluded there is currently not enough good evidence to recommend the use of AI for image classification in breast screening.

2.11 Enhanced risk-based screening for colorectal cancer

The bowel cancer screening research advisory committee (RAC) received a proposal in 2021 for enhanced risk-based bowel cancer screening. The UK NSC was asked to support the development of a research project to evaluate if the current national screening programme could refine its referral pathway to colonoscopy by applying an enhanced risk assessment.

In support of this request, the UK NSC evidence team commissioned an evidence map to assess the volume and type of evidence relevant to enhanced risk-based screening. The evidence map explored whether faecal immunochemical testing (FIT), combined with risk prediction models, encompassing various colorectal cancer risk factors, might perform better in screening than FIT alone.

A 2016 thesis Optimising the FIT: risk adjusted colorectal cancer screening using routine data had a similar scope and this was used as a starting point for the UK NSC evidence map. Overall, the evidence map concluded there was not enough evidence relating to enhanced risk-based screening to justify an update.

3. Chair’s action on 2020 annual call proposal

The UK NSC chair took chair’s action on the 2020 annual call proposal for screening for ceroid lipofuscinosis type 2 (CLN2).

CLN2 is a rare genetic disease caused by a deficiency of the enzyme tripeptidyl peptidase 1 (TPP1). CLN2 is only one of several forms of neuronal ceroid lipofuscinosis, often collectively referred to as Batten disease. CLN2 is inherited in an autosomal recessive manner.

CLN2 typically presents between the age of 2 and 4 years. Typical signs include mild to severe delays in speech development, seizures and behavioural problems. CLN2 continues to progress rapidly and leads to further loss of motor and language skills, development of myoclonus, decline in vision, deterioration of cognitive function and death by early adolescence.

An evidence map was commissioned to look at 3 important questions covering:

• how accurate the tests are

• treatment

• whether there are any national or international guidelines on population screening

The evidence map concluded that the volume and type of evidence relating to screening for CLN2 did not justify an evidence summary at this stage and no further work on screening for CLN2 should be commissioned. This was because:

• there were no international recommendations on population screening to detect CLN2 in newborns

• there was no direct evidence on how good screening tests were in a setting comparable to a population screening

• there were no studies on the benefits of treatment in screen-detected patients, and very limited evidence on the effectiveness of treatment in pre-symptomatic patients

Based on the outcome of the evidence map, the UK NSC decided, under a chair’s action, that no further work should be commissioned at this time to look at the offer of newborn screening for CLN2.

4. 2021 annual call for topics

The 2021 annual call was the UK NSC’s sixth call for new topics to be considered. It received 4 submissions (listed below).

4.1 Neonatal diabetes

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.

4.2 Anorectal malformations

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.

4.3 Metachromatic leukodystrophy

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 given that NICE now recommends the use of a new medicine, and that an evidence map should be commissioned.

4.4 Craniosynostosis

The UK NSC’s fetal, maternal and child health (FMCH) group requested further information at its May meeting before considering this topic further.

5. UK NSC membership

5.1 Chair

Professor Robert (Bob) Steele, Professor of Surgery and Head of Division of Surgery and Oncology, University of Dundee (stepped down March 2022)

Professor Sir Mike Richards (joined March 2022)

5.2 Vice-chair

Dr Graham Shortland, Medical Director and Consultant Paediatrician, Cardiff and Vale University Health Board

5.3 Members

Claire Bailey - Lead Clinical Nurse Specialist in breast screening, South West London.

Professor Roger Brownsword - School of Law, King’s College London.

Professor Louise Bryant - Associate Professor in Medical Psychology, University of Leeds.

Dr Paul Cross - Consultant Cellular Pathologist, Queen Elizabeth Hospital Gateshead Health NHS Foundation Trust (stepped down from November 2021).

Eleanor Cozens - patient and public voice (PPV).

Professor 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.

Professor Gareth Evans - Consultant in Genetics Medicine, St Mary’s Hospital, Manchester.

Jane Fisher - PPV.

Hilary Goodman - Midwife, Hampshire Hospitals NHS Foundation Trust.

Professor Alastair Gray - Director at the Health Economics Research Centre, Nuffield Department of Population Health and Prof of Health Economics at the University of Oxford.

Professor Chris Hyde - Public Health Specialist, University of Exeter.

Dr Jim McMorran - GP, Coventry.

Margaret Ann Powell - PPV.

Dr Anne-Marie Slowther - Reader in Clinical Ethics, Warwick Medical School, University of Warwick.

5.4 Observers

June 2021

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

Dr Alan Smith - Deputy CMO, Department of Health – Ireland (stepped down October 2021).

Dr David Elliman - Clinical Lead for NHS Newborn Infant Physical Examination and Newborn Blood Spot Programme, PHE.

Catherine Joynson - Nuffield Bioethics on secondment to the UK NSC / PHE.

Mariejka Beauregard - Screening Fellowship.

Dr Sharon Hillier - Chair of the Fetal Maternal and Child Health (FMCH) Group.

Caroline Vass - Public Health Consultant.

Sandra Anglin - NHS England and NHS Improvement (NHSEI).

Dominic Horne - NHSEI.

November 2021

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

Evette Wade - Republic of Ireland.

Kate O’Flaherty - Republic of Ireland.

Deborah Tomalin - Director of Public Health Commissioning and Operations, NHSEI.

March 2022

Deborah Tomalin - Director of Public Health Commissioning and Operations, NHSEI.

5.5 Invitees

November 2021

Mariejka Beauregard - Screening Fellowship.

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

Dr Ros Given-Wilson - Chair of the Adult Reference Group (ARG).

Dr Sharon Hillier - Chair of the FMCH.

Gila Sacks - Director Prevention Services, Office for Health Improvement and Disparities (OHID).

March 2022

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

Dr Ros Given-Wilson - Chair of the Adult Reference Group (ARG).

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

Dr Sharon Hillier - Chair of the FMCH Group.

Gila Sacks - Director Prevention Services, OHID

5.6 UK country representatives

Daniel Gascoigne - Head of Screening Policy, DHSC.

Nimisha De Souza - DHSC Screening Policy Team, Global and Public Health Group.

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

Laura McGlynn - Scottish Government.

Tasmin Sommerfield - National Screening Oversight (NHS Scotland).

Michael Kerr - Scottish Government.

Dr Carol Beattie - Northern Ireland.

5.7 Presenters

June 2021

Henrietta Hopkins (presented public dialogue work on whole genome sequencing).

November 2021

Prof Sian Taylor-Philips - Professor of Screening and Test Evaluation.

March 2022

Siobhan Alt - Project Lead, NHS Fetal Anomaly Screening Programme, NHSEI.

Nadia Permalloo - Head of Quality Assurance Development, Screening Quality Assurance Service NHSEI.

Andrew Rostron - Project Lead, NHSEI.

Dr Lena Alkhudairy - University of Warwick.

Prof Aileen Clarke - University of Warwick.

5.8 Secretariat

Prof Anne Mackie - Director of Programmes, UK NSC.

John Marshall - UK NSC Evidence Lead.

Dr Farah Seedat - UK NSC Evidence Review Manager.

Dr Cristina Visintin - UK NSC Evidence Review Manager.

Silvia Lombardo - UK NSC Evidence Review Manager.

Julia Bowen - UK NSC Evidence Review Manager.

Zeenat Mauthoor - Secretariat Expert Committee and Policy Liaison Manager.

Paula Coles - Senior Information Scientist.

Fabrice Lafronte - UK NSC Secretariat officer.

Jo Harcombe - OHID Screening National Lead for Informed Choice, Information and Workforce.