Corporate report

Screening in the UK: making effective recommendations 1 April 2019 to 31 March 2020

Published 9 April 2021

Summary

Between 1 April 2019 and 31 March 2020, the UK National Screening Committee (UK NSC):

• held 3 meetings

• had 19 members

• received 5 submissions from the annual call for topics

• made recommendations on 19 evidence review products

• considered 2 proposals to modify existing screening programme – changing the post screening surveillance intervals in the abdominal aortic aneurysm (AAA) programme and introducing pulse oximetry (PO) in the newborn and infant physical examination (NIPE)

Foreword by Professor Bob Steele and Professor Anne Mackie

The UK NSC had another busy year tackling a range of fascinating, significant and challenging issues.

Professor Bob Steele, Chair of the UK NSC and Professor Anne Mackie, Director of Programmes, UK NSC said:

We continue to encourage research into conditions where more evidence is required into the potential benefits of introducing screening.

As a committee, we make recommendations based on thorough reviews of all the available evidence, expert input, and public consultations.

We always include a careful assessment of the balance between benefits and harms when making recommendations. We also continue to encourage research into conditions where more evidence is required into the potential benefits or otherwise of introducing screening.

Programme modifications

Recent years have seen an increase in proposals to modify the existing NHS population screening programmes.

We expect to continue to receive a lot more of these proposals as the national screening programmes aim to remain effective and take into account advances in technology such as artificial intelligence (AI).

The 2019 to 2020 screening year (1 April 2019 to 31 March 2020) saw the rollout across England of 2 major programme modifications the UK NSC agreed the previous year.

These were:

• human papillomavirus (HPV) testing becoming the primary screening test in the cervical programme

• faecal immunochemical test (FIT) becoming the primary screening test in the bowel cancer programme

Both these improved tests have numerous advantages over their predecessors and will greatly benefit the eligible populations over the years to come. FIT detects more cancers and has fewer false positives than its predecessor. Primary HPV screening will identify more women at risk of cervical cancer than cytology and therefore prevent more deaths.

The committee also reviewed 2 new proposals to modify existing programmes, which were:

• changing the surveillance intervals in the abdominal aortic aneurysm (AAA) programme

• introducing pulse oximetry (PO) in the newborn and infant physical examination (NIPE) programme

In both cases, we were unable to support the proposed modifications.

The NHS AAA Screening Programme is already highly effective. The proposed change to surveillance intervals for men with AAA measuring 3.0cm to 3.9cm from every year to every 2 years would see a slight rise in ruptures. It would save an estimated £300,000 over a 30 year cohort. The committee felt this was a relatively small gain when set against the risk.

PO is an effective way to find more congenital heart disease before newborn babies go home. However, it is not just a test of heart disease as it also finds other conditions associated with low oxygen levels in the blood. Evidence to be sure that there is benefit to those babies is not clear cut.

The committee therefore decided that more research was needed before making a final recommendation. We have commissioned further modelling to see if data can be collected from the NHS and this evidence can be generated. Many neonatal service providers already use PO and we will take into account evidence from these providers before making a final recommendation.

During the year, we commissioned additional work to evaluate the introduction of screening for severe combined immunodeficiency (SCID) as part of the NHS Newborn Blood Spot (NBS) Screening Programme.

An update was given at the June 2019 UK NSC meeting and funding was released for a 2-year evaluative introduction of screening for SCID in newborn babies from September 2021. This means we will be able to monitor how the introduction of screening for SCID is working as it is rolled out and make any changes to the pathway and screening processes quickly and effectively if required.

Annual call for topics and further research

Our fourth annual call for topics attracted a lot of interest and generated some very interesting ideas. The annual call is an easy, accessible way for people to suggest a new condition for the UK NSC to consider for screening.

We hope stakeholders will continue to use this opportunity to bring important topics to our attention.

This year’s submissions included proposals to introduce screening for dyslexia in school age children and screening for fetal presentation during pregnancy. We agreed both these proposals fell within the committee’s remit and decided to commission evidence maps to look at the volume and type of evidence related to the topics.

Thank you

As always, we would like to thank the secretariat, committee members and government colleagues across the UK for their support, wealth of knowledge and expert advice throughout the year.

We will continue to do our utmost to serve the health of the 4 nations.

About the UK National Screening Committee

The UK National Screening Committee (UK NSC) advises ministers and the NHS in the 4 UK countries about all aspects of population screening and supports the implementation of screening programmes.

The UK NSC’s complete list of recommendations sets out more than 100 conditions, including recommendations to screen for more than 30.

The UK NSC makes its recommendations based on internationally recognised criteria and a rigorous evidence review process.

The UK NSC meets 3 times a year to make new recommendations or update existing ones.

Conditions are reviewed against evidence review criteria according to the UK NSC’s evidence review process.

UK NSC central expenditure 1 April 2019 to 31 March 2020

Director’s office

Director’s office	Expenditure in £ 1,000s
Pay costs	1659
Non-pay costs	226
Ad hoc screening development projects	180
Staff: breast screening incident	489
Total	2,554

Evidence review team

Evidence review team	Expenditure in £ 1,000s
Pay costs	408
Non-pay costs UK NSC reviews	21
UK NSC reviews	651
Total	1,080

Evidence reviews

The UK NSC made a total of 21 recommendations.

Abdominal aortic aneurysm (AAA) screening programme modification proposal

The condition

An aneurysm occurs when part of an artery swells. It is caused by a damaged blood vessel or a weakness in the blood vessel wall. The pressure of blood in the artery causes it to expand at the weak point. If not treated or monitored, an aneurysm can rupture. This can lead to internal bleeding and death.

Proposed modification

The proposal was to extend the post screening surveillance intervals for men with AAA 3.0cm to 3.9cm from every year to every 2 years. The proposal was for the surveillance intervals and referral threshold to remain unchanged for men with AAA 4.0cm or wider.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC recommended at its UK NSC February 2020 meeting that the programme modification should not be introduced.

Reasons

The UK NSC reviewed the evidence alongside an updated Human Tissue Authority (HTA) cost effectiveness model. It recommended the programme modification proposal should not be introduced because there was limited evidence to support the change. The UK NSC recognised that the programme was already highly effective. Based on estimates from the model, a change would accrue a saving of £300,000 over a 30 year cohort, which overall would be a small monetary gain alongside a slightly increased risk of AAA ruptures.

Atrial fibrillation

The condition

Atrial fibrillation (AF) causes a fast and erratic heart beat. It is a complication of various diseases. Medication can slow the heart rate back to normal and ease symptoms. In some cases, treatment can restore the heart back to a normal rhythm.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for AF. Read the full UK NSC recommendation on screening for AF.

Reasons

The UK NSC does not recommend a national screening programme for AF because:

• there are different types of AF and it is not clear if these all have the same risk for stroke

• it is not known how effective treatment for AF is in people found through screening

• it is not known if screening is more beneficial for people with AF than the current approach

A large research project is under way in the UK to find out if screening is more beneficial for people with AF than the current process. This will help the UK NSC to understand more about the benefits and harms of screening.

Next review date

1 April 2022 to 31 March 2023

Cystic fibrosis in pregnancy

The condition

Cystic fibrosis is a genetic condition, which can be fatal if not treated. People with cystic fibrosis struggle to absorb nutrients from food. They also experience recurrent chest infections which may lead to pneumonia.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for cystic fibrosis in pregnancy. Read full UK NSC recommendation on screening for cystic fibrosis in pregnancy.

Reasons

Screening for cystic fibrosis in pregnancy is not recommended because:

• many genes may play a role in causing cystic fibrosis, which makes it difficult to know which ones to screen for

• there has been no new evidence to support screening all women during pregnancy

Next review date

1 April 2022 to 31 March 2023

Dental disease in children

The condition

Tooth decay is also known as dental decay and dental caries. It is caused by a bacterial infection of the teeth.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for dental disease in children. Read full UK NSC recommendation on screening for dental disease in children.

Reasons

The UK NSC does not recommend population screening for dental disease in children aged 6 to 9 years. There is no evidence to support a change in policy.

Nationally, resources would be more effective focusing on prevention of the disease, especially in relation to tackling health inequalities which form an important part of primary dental care services.

Next review date

1 April 2022 to 31 March 2023

Diabetes in adults

The condition

Diabetes is a long-term (chronic) condition caused by too much glucose (sugar) in the blood. It is also known as diabetes mellitus.

Type 1 diabetes occurs when the body produces no insulin. It is often referred to as insulin-dependent diabetes. It is also sometimes known as juvenile diabetes, or early-onset diabetes, because it usually develops before the age of 40, often in the teenage years.

Type 2 diabetes occurs when not enough insulin is produced by the body for it to function properly, or when the body’s cells do not react to insulin. This is called insulin resistance. Type 2 diabetes is far more common than type 1 diabetes.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for type 2 diabetes in adults. Read full UK NSC recommendation on screening for diabetes in adults.

Reasons

The UK NSC does not currently recommend screening for type 2 diabetes. This is because:

• there is no evidence that screening is more beneficial than not screening

• there is no evidence that finding type 2 diabetes early by screening results in a greater health benefit than usual health care

• more research is needed to review tests and benefits of screening for type 2 diabetes

Next review date

1 April 2022 to 31 March 2023

Familial hypercholesterolaemia in children

The condition

Familial hypercholesterolaemia (FH) is a hereditary condition that causes very high cholesterol (fat) in the blood. This ‘bad’ cholesterol is called low density lipoprotein (LDL). This can build up in the blood vessels, putting the person at risk of developing heart disease in their adult life. The cholesterol build-up usually starts during childhood.

The aim of a population screening programme would be to identify children who have inherited the condition. This would lead to early diagnosis in children to prevent them developing heart disease when they get older. Treatment usually includes a healthy diet combined with medication, called statins, to help reduce cholesterol. Children with FH would start statin treatment from 10 years old.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for FH in children. Read full UK NSC recommendation on screening for FH in children.

Reasons

The review found that there is still not enough evidence to recommend population screening for FH. This is because:

• screening may benefit children with FH but it is not known if this will result in the prevention of heart disease in later life

• the age at which screening should take place is still not clear

• there is UK research on screening in children aged 2 years but there are ethical concerns about identifying children at this age because there is no recommended treatment for them

• there is UK research on screening in children aged 9 years: these children are closer to the age where the treatment is clearer, but the study was small and we need more research

Screening at any age would identify children with other causes of high cholesterol and there is no recommended treatment for these children.

Next review date

1 April 2023 to 31 March 2024

Glaucoma

The condition

Glaucoma is the name given to a group of eye conditions that affect vision. Glaucoma often affects both eyes, usually in varying degrees. One eye may develop glaucoma quicker than the other. If glaucoma is left untreated it can cause blindness. If it is diagnosed and treated early enough, further damage to vision can be prevented.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for glaucoma in adults. Read full UK NSC recommendation on screening for glaucoma in adults.

Reasons

The UK NSC does not currently recommend screening for glaucoma in adults. This is because:

• it is not clear if the available tests are accurate enough to use in a screening programme

• there is no evidence to show that screening would result in better outcomes for people with open-angle glaucoma compared to current treatment

Next review date

1 April 2022 to 31 March 2023

LCHADD in newborns

The condition

Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency (LCHADD) is a vey rare condition where a person is missing a certain protein and is unable to break down certain fats. This means they cannot produce enough energy and become ill. Without treatment babies can develop heart problems, go into a coma and can die. Treatment involves changing the diet so it is low in particular types of fat.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for LCHADD in newborns. Read full UK NSC recommendation on screening for LCHADD.

Reasons

Screening babies for LCHADD is not recommended because:

• it is not clear what the best test is, or whether screening on day 5 would identify affected babies before symptoms begin

• it is uncertain if screening would be effective at improving health outcomes

Next review date

1 April 2022 to 31 March 2023

Mucopolysaccharidosis type I (MPS I)

The condition

MPS I is a rare genetic condition. This prevents the breakdown of certain sugars in the body. The build-up of such sugars causes problems with children’s physical and mental development. In its worst form, it can lead to organ damage and early death.

MPS I has a severe form called Hurler syndrome when symptoms may often appear at around 6 months of age. Less severe forms of MPS I develop later in childhood, typically between 3 and 10 years of age. A national screening programme would aim to find newborn babies with MPS I before symptoms appear, so they can be treated early. The purpose of this would be to improve the health of affected babies.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for MPS1. Read full UK NSC recommendation on screening for MPS1.

Reasons

The evidence summary found there was still not enough evidence to recommend population screening for MPS I. This is because:

• more research on newborn screening tests for MPS I is needed because there is not enough evidence that current tests are accurate enough to use in a national screening programme

• research evidence is not clear that treatments such as stem cell transplantation or enzyme replacement therapy are more effective when used earlier than they are now without screening

Next review date

1 April 2023 to 31 March 2024

Osteoporosis in women after the menopause

The condition

Osteoporosis is a condition that affects the bones, causing them to become thin and weak. It usually affects people during old age, when the body becomes less able to replace worn-out bone.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for osteoporosis in women after the menopause. Read full UK NSC recommendation on screening for osteoporosis in women after the menopause.

Reasons

The UK NSC does not recommend screening for osteoporosis in postmenopausal women. This is because:

• it is not known how accurate screening tests are in the women who would screened

• it is not known what effect treatment and changes in lifestyle would have on some types of fracture

• it is not known what effect treatment and changes in lifestyle will have on women identified as being at risk of fracture through screening

• research shows that screening all women does not reduce the number of fractures compared to current care

There is some evidence that hip fracture may be reduced by screening. More research is needed to understand if this is correct.

Next review date

1 April 2022 to 31 March 2023

Partner violence in antenatal and adult populations

The condition

Partner violence is any form of violence or abuse by a current or former spouse or partner. Adults of all ages, genders, races and sexualities can be affected.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for partner violence in adults or partner violence in pregnancy. Read full UK NSC recommendations on screening for partner violence in adults and partner violence in pregnancy.

Reasons

The UK NSC does not recommend screening for partner violence because:

• there is a lack of evidence that screening would reduce partner violence or improve health outcomes

• it is not known how effective interventions would be at reducing partner violence or health problems

• there was not enough research to be sure that a test would be accurate enough to be used in a screening programme

• the extent of partner violence within different groups of the UK population is not known

Next review date

1 April 2022 to 31 March 2023

Parvovirus B19 infection in pregnancy

The condition

Parvovirus B19 is a common infection, which usually infects school age children. Symptoms tend to be flu-like with a rash of the cheeks which may spread elsewhere. About 20% to 30% of cases do not present any symptoms.

UK NSC recommendation

Following an evidence map review, the UK NSC does not currently recommend introducing a national screening programme for parvovirus B19 infection. Read the full UK NSC recommendation on screening for parvovirus B19 infection.

Reasons

Screening women for parvovirus B19 infection is not recommended because:

• more research is needed to know how many people have the disease

• more research needs to be done on the best way to test for the condition

• there are currently no ways to treat the disease or prevent the baby from being infected

Advice on the testing and management of pregnant women exposed to the virus is provided by:

• Health Protection Agency

• Royal College of Obstetricians and Gynaecologists

• National Institute for Health and Care Excellence

Next review date

1 April 2022 to 31 March 2023

Pulse oximetry (PO) as an additional test in the Newborn and Infant Physical Examination (NIPE)

The condition

Congenital heart defects (CHDs) are problems with the heart that are present at birth. They include a wide range of problems. More severe defects require urgent treatment. PO can be used to measure the amount of oxygen in the blood. Research shows that low levels of oxygen can indicate serious heart problems as well as other health conditions.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC decided further research was needed before making a final recommendation on the introduction of the PO test in the NHS NIPE programme. Read full UK NSC recommendation on screening for pulse oximetry as an additional test in the NHS NIPE Programme.

Reasons

The UK NSC decided further research was needed on the effect on all babies before it could make a final recommendation. Units that are already using PO in the NIPE programme can help with the collection of evidence until the UK NSC has enough evidence to make a final recommendation on its use.

Next review date

1 April 2022 to 31 March 2023

Stillbirth

The condition

A stillbirth is a baby born dead after the 24th week of pregnancy. This UK NSC recommendation concentrates only on stillbirths caused by placenta related problems. These are responsible for around 40% of stillbirths.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for preventing stillbirth. Read full UK NSC recommendation on screening to prevent stillbirth.

Reasons

The UK NSC does not recommend screening mothers for stillbirth because there is:

• no accurate test available for predicting stillbirth

• a lack of knowledge about how to best look after at-risk mothers

• not enough evidence to show that treatments are able to reduce the risk of stillbirth if there is a problem with the placenta

• not enough information on how to plan a birth to prevent stillbirth, without risk to the baby

Next review date

1 April 2022 to 31 March 2023

Screening for cardiac conditions associated with sudden cardiac death (SCD) in the young

The condition

Sudden cardiac death (SCD) is the sudden and unexpected death of a person caused by a problem with their heart. The causes in people under the age of 39 are often a thickening of the heart muscle or an electrical problem with the heart. In older people, SCD is more likely to be caused by a narrowing of the blood vessels that supply the heart.

The effects of SCD can have a devastating impact on the affected individual and on the wider communities in which the families and friends live and work. There is guidance on testing family members of people at risk of SCD. Effective implementation of this guidance through a targeted screening programme may help prevent SCD in some groups of people who are at high risk.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend introducing a national screening programme for SCD in the young. Read full UK NSC recommendation on screening for SCD in the young.

Reasons

The review did not find any examples to show the effectiveness of screening programmes in

young people for the prevention of SCD. Previous UK NSC reviews have found examples of

screening programmes, but these have mainly been for professional athletes. it was not possible for the review to estimate the balance of benefit and harm that may come from screening all young people under the age of 39. It is not known if systematic population screening would work to reduce deaths.

Next review date

1 April 2022 to 31 March 2023

Varicella susceptibility screening in pregnancy

The condition

Varicella zoster virus (VZV) is the virus which causes chickenpox. It usually occurs in children under 10 years old, causing a mild infection. If a woman catches the virus for the first time during pregnancy it can make her seriously ill. Her baby may also be affected.

UK NSC recommendation

Following an evidence map review, the UK NSC does not currently recommend introducing a national screening programme for varicella susceptibility screening in pregnancy. Read full UK NSC recommendation on screening for varicella susceptibility screening in pregnancy.

Reasons

Screening is not recommended because:

• there is very little data on susceptibility to chickenpox in the UK or on the number of susceptible women who come into contact with the virus during pregnancy

• current tests have not been evaluated for use in the general pregnant population

• there is no evidence looking at whether a screening programme improves the delivery of varicella zoster immunoglobulin (VZIG), so there is uncertainty on the benefit of a screening programme

Next review date

1 April 2022 to 31 March 2023

Vision defects in children

The condition

Vision defects in children include amblyopia, refractive error and strabismus. Amblyopia is one of the main problems affecting children aged between 4 and 5 years. It occurs when the eye does not work properly, although it appears normal. This can be serious if not treated. Other problems affecting the eye include refractive error (short or long sight) and strabismus (squint).

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC recommends that screening of children’s eyes should continue to be offered to all children aged 4 to 5 years. This service should be organised and led by specialists (orthoptists). Read full UK NSC recommendation on screening for vision defects in children.

Reasons

The review found that:

• amblyopia, when the eye does not work properly even though it appears normal, is the main problem found by screening in this age group

• treatment by covering the good eye with a patch has been shown to help correct sight in the affected eye; however, it is possible that the problem with the child’s eye can come back again after treatment has stopped

The UK NSC would welcome research to understand more about the long-term effects of amblyopia and the long-term effects of treatment.

Next review date

1 April 2022 to 31 March 2023

2019 annual call for topic submissions

The 2019 annual call was the UK NSC’s fourth call for new topics to be considered. It received 5 submissions.

Dyslexia

This proposal suggested that children of school age should be screened for dyslexia.

The evaluation group agreed that it fell within the UK NSC’s remit and had not been considered before.

It was decided that an evidence map should be commissioned.

Fetal presentation

The proposal is to screen all pregnant women for fetal presentation using a handheld ultrasound device during routine antenatal appointments at around 36 weeks of gestation.

The aim would be to detect the position of the baby to see if baby is head-down (cephalic) rather than bottom or feet first (breech position) or lying sideways (transverse position). Screening would aim to detect those babies who were not head-down and to offer options to help manipulate the baby’s position to become head-down or offer a planned caesarean delivery to minimise harm to mother and baby.

The evaluation group agreed that this proposal had not been considered before and fell within a defined whole population group. It was agreed that an evidence map would be commissioned to scope the volume and type of published peer reviewed evidence available on this condition. The UK NSC agreed to this approach

Liver cirrhosis

The proposal calls to screen high risk groups of the condition using transient elastography. Liver cirrhosis is scarring of the liver caused by long-term liver damage which then prevents the liver from working properly. This can lead to liver failure. There is no cure for cirrhosis but it is possible to manage symptoms through lifestyle changes.

The evaluation group agreed that this proposal fell outside the UK NSC’s remit as it relates to high risk groups. It was proposed that no further work should be conducted. The UK NSC agreed.

Pressure reducing carotid stenosis, vascular dementia; regional cerebral hypotension

The proposal submitted looks to screen all people over the age of 50 using an adapted mobile phone which would measure and take specialised photographs of the face to identify low blood pressure in a portion of their brain.

The evaluation group agreed that this proposal met the initial 2-point criteria and that an evidence map should be commissioned. The UK NSC agreed with this approach.

5q spinal muscular atrophy

The proposal calls for newborn screening for 5q spinal muscular atrophy (SMA).

The evaluation group agreed that the proposal did not meet the inclusion criteria for the annual call for new topics, as SMA screening in newborns is included in the list of conditions that the UK NSC regularly reviews. However, it was agreed to consider this submission as an early update given that new evidence submitted by the stakeholder may impact the UK NSC’s 2018 recommendation not to offer antenatal or newborn screening for SMA.

The UK NSC evidence team assessed if the new evidence would have an impact on the conclusions of the 2018 UK NSC evidence review and presented these conclusion to this meeting.

The proposal drew attention to developments relating to treatment. The evidence presented by the NURTURE study showed promising results in relation to the efficacy of the drug nusinersen in asymptomatic individuals with SMA type I to II. It is important to note that these are preliminary results and the study is due to report its conclusion in 2025.

The recent change in the National Institute for Health and Care Excellence (NICE) guidance on the use of nusinersen as a treatment option in 5q SMA in individuals with pre-symptomatic SMA, or SMA types 1, 2 or 3 is also a significant development and focuses attention on screening. However, the information provided in the proposal did not include new evidence in relation to other criteria that were not met in the 2018 review, such as the screening test.

There are also concerns about the cost-effectiveness of the treatment. An estimate is difficult because of lack of evidence about long-term benefits and the possibility of regression. Therefore, an early update would be unlikely to change the conclusion of the review overall.

Information about this was discussed at the UK NSC February 2020 meeting.

Evidence map outcomes

Evidence maps are commissioned after successful submissions to the annual call.

Evidence maps are a way of scanning published literature to look at the volume and type of evidence in relation to a topic. No assessment on the quality of the evidence is made at this stage. They inform whether there is enough evidence to commission a more sustained analysis of the condition, for example through an evidence summary or systematic review.

Cutaneous melanoma screening in adults

Following a submission to the 2018 annual call, an evidence map was commissioned to find out if there was any evidence available on the accuracy of using ocular/iris photography to detect iris nevi/iris pigmented lesions to screen for risk of cutaneous melanoma.

No studies examining the accuracy of this test were found and the UK NSC recommended that:

• no further work should be carried out due to lack of evidence

• cutaneous melanoma in adults should not be added to the UK NSC’s list of topics

Klinefelter syndrome screening in newborns and adolescents

An evidence map was commissioned to try to find out:

• the prevalence or incidence of Klinefelter in the UK

• if there is a suitable screening test

• if there are any national or international guidelines

Although there was some evidence on the incidence or prevalence of Klinefelter syndrome in the UK, there was no evidence available that met the inclusion criteria on a suitable test. No national or international guidelines or recommendations on screening were found.

The UK NSC agreed:

• there was not enough evidence to progress to the next step of the process and commission a more detailed analysis

• the condition should not be added to the UK NSC’s list of topics

Neurofibromatosis type 1 (NF1) screening in the newborn at 12 months and 2 years

An evidence map for NF1 was commissioned following the 2018 annual call. It addressed 3 questions:

1. Are there any guidelines and/or recommendations for systematic population screening?

2. Is there evidence on the diagnostic accuracy of physical examination of the child’s skin as a screening test?

3. Is there any evidence of the benefits of early detection of NF1?

No guidelines or recommendations were found. There was some evidence on the test but none of this evidence assessed the diagnostic accuracy.

No studies were found that directly assessed the benefits of early detection. The UK NSC agreed that:

• there was not enough evidence to progress to the next step of the process and commission a more detailed assessment

• the condition should not be added to the UK NSC’s list of topics

22q11 Deletion Syndrome screening in newborns

An evidence map was commissioned to identify if there:

• were any national or international guidelines on population screening

• was any evidence on the number of people with 22q11 Deletion Syndrome in the UK

• was a suitable screening test that could be used in the current NHS Newborn Blood Spot Screening Programme

No guidelines or recommendations on population screening were found.

One study reported on prevalence but this was in a population that was either high risk or suspected to have 22q deletion syndrome, so was not indicative of the general UK population.

Five small studies on possible tests were found, but the types of study meant they would not give a reliable indication of how the test would perform in a screening population.

Overall, the conclusion was that the volume and type of evidence available was insufficient to move on to the next step in the evidence review process and the condition was not added to the list of conditions.

UK NSC membership

Chair

Professor Robert (Bob) Steele, Professor of Surgery and Head of Division of Surgery and Oncology, University of Dundee

Vice-chair

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

Members

Claire Bailey, Lead Clinical Nurse Specialist, Breast Screening, SW London Breast Screening Service

Professor Roger Brownsword, Professor in Law at King’s College London and Bournemouth University

Dr Louise Bryant, social scientist

Professor Alan Cameron, Consultant Obstetrician, Queen Elizabeth University Hospital, Glasgow

Eleanor Cozens, International Development Consultant, Independent

Dr Paul Cross, Consultant Cellular Pathologist, Queen Elizabeth Hospital Gateshead Health NHS Foundation Trust

Dr Hilary Dobson, Deputy Director of the Innovative Healthcare Delivery Programme, University of Edinburgh

Professor Stephen Duffy, Director of the Policy Research Unit in Cancer Awareness, Screening and Early Diagnosis and Professor of Cancer Screening, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine

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

Jane Fisher, Patient and Public Voice

Hilary Goodman, Midwife, Hampshire Hospitals NHS Foundation

Professor Alastair Gray, Director, Health Economics Research Centre, Nuffield Department of Population Health University of Oxford

Dr John Holden, Joint Head of Medical Division, Medical and Dental Defence Union of Scotland

Professor Chris Hyde, Professor of Public Health and Clinical Epidemiology, University of Exeter Medical School

Dr Jim McMorran (GP)

Mrs Margaret Ann Powell, Patient and Public Voice

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

4 UK country representatives

Dr Carol Beattie, Senior Medical Officer, Department of Health, Social Services and Public Safety Northern Ireland

Tanya Scanlon, Department of Health and Social Science Screening Team, Emergency Preparedness and Health Protection Policy Global and Public Health Group

Sarah Manson, National Screening Programmes, Scottish Government

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

Niall O’Higgins, ROI (Joined in 2020), Chair of the National Screening Advisory Committee, Ireland

Alan Smith, ROI (Joined in 2020), Deputy CMO, Department of Health – Ireland

Observers

Natasha Alleyne, Screening Team, Emergency Preparedness and Health Protection Policy, Global and Public Health Group, Department of Health

Sue Payne, Public Health, Scottish Government

Ardiana Gjini, Public Health Wales

Sam Cramond, NHS representative

Deborah Tomlinson, NHS England

David Elliman, Clinical Lead for NHS Newborn Infant Physical Examination Programme and NHS Newborn Blood Spot Screening Programme

Ros Given-Wilson, Chair of Adult Reference Group (ARG)

Sharon Hillier, Director of Screening Division, Public Health Wales, Chair of Fetal Maternal and Child Health Group (FMCH)

Nick Hicks, National Co-ordinating Centre for HTA

Alan Smith CMO, National Screening Service Republic of Ireland

Alex Drew-Hawkins, States of Guernsey

Liane Powell, Fetal Anomaly Screening Programme Project Lead and National Education Manager

Mariejka Beauregard, Screening Fellowship

Presenters

Akhtar Nasim, Clinical Lead, NHS AAA Screening Programme

Lisa Summers, AAA Screening, National Programme Manager, PHE

Caroline Vass, Registrar in Public Health

Patrick Rankin, Diabetic Eye Screening, National Programme Manager, PHE

Prof Anneke Lucassen, Clinical Genetics within Medicine, University of Southampton

Dan Cariad

Invitees

Dr Hans Houweling, Health Council of the Netherlands

Dr Leo van Rossum, Health Council of the Netherlands