Corporate report

Screening in the UK: making effective recommendations 1 April 2018 to 31 March 2019

Published 12 August 2019

Summary

From 1 April 2018 to 31 March 2019, the UK National Screening Committee (UK NSC) held 3 meetings, and was made up of 20 members, 4 UK country representatives, 10 observers and 5 secretariat representatives. It received 10 submissions via its annual call for topics. It completed 13 evidence reviews and recommendations (see below), and recommend 2 major screening programme changes.

This year, the UK NSC carried out evidence reviews for:

Membership of the committee saw the new appointments of Dr Louise Bryant (social scientist) and Dr Jim McMorran (GP). Observer Dr Sharon Hillier was appointed chair of the Fetal, Maternal and Child Health Group. Dr Greg Irving (GP) stepped down from the committee.

Foreword by Professor Bob Steele – Chair of the UK NSC

The UK NSC continues to be an unending source of fascinating, significant and challenging issues and my role as independent chair has been greatly helped by the outstanding quality of the committee members.

Our recommendations are based on a thorough review of all the available evidence, expert input and public consultations

This report describes the work of the committee between 1 April 2018 and 31 March 2019.

I should like to stress that our recommendations are based on a thorough review of all the available evidence, expert input, and public consultations. In addition, we always include a careful assessment of the balance between benefits and harms when making decisions.

Our third annual call for topics attracted a lot of interest and provided us with a number of very interesting ideas. We hope that stakeholders will continue to use this opportunity to bring issues of importance and concern to our attention.

Perhaps the 2 highlights of the year were the cervical and bowel cancer programme modifications. Human papillomavirus (HPV) testing will bring undoubted benefit to women undergoing cervical screening and the faecal immunochemical test (FIT) will move the bowel cancer screening programme to a whole new level.

I have many people to thank, but I only have space to make specific mention of a few of them.

I should like to start by acknowledging the sterling work done by the Adult Reference Group (ARG) and the Fetal Maternal and Child Health (FMCH) Group, chaired respectively by Ros Given-Wilson and Sharon Hillier.

They represent the engine houses of the UK NSC and I cannot begin to imagine how we would manage without them.

We are also heavily dependent on independent experts outside the committee to inform our recommendations. I should particularly like to recognise the huge amount of work done by Sophie Whyte and her colleagues from the School of Health and Related Research (ScHARR) whose economic modelling was critical in reaching a conclusion about the bowel cancer screening programme.

Finally, as ever, I am greatly indebted to the Committee Secretariat: Zeenat Mauthoor for her tireless work in keeping us under control, John Marshall and his evidence team for their work which is central to our core business and, of course, Prof Anne Mackie whose enthusiasm and energy keeps us all going.

Reading this review, you will see that we have had some very interesting issues during the past year. I do not have a crystal ball, but I can predict with some confidence that we will be addressing some major issues in the coming year, including assessment of the rapidly accumulating evidence on lung cancer screening.

We shall also be entering into discussion with the National Institute for Health and Care Excellence (NICE) and the devolved countries to grapple with how we should most effectively manage targeted high-risk screening.

We will be busy and we shall continue to do our utmost to serve the health of the 4 nations of the UK.

Welcome by Professor Anne Mackie – Director of Programmes, UK NSC

It has been a big year for the UK NSC. I would like to thank committee members for their wealth of knowledge and experience and their expert advice throughout the year.

Most notably, the committee endorsed major modifications to 2 of our highest profile national programmes – bowel cancer screening and cervical screening.

As a result, HPV testing will become the primary screening test in the cervical programme and FIT will replace the guaiac faecal occult blood test (gFOBt) in the bowel cancer programme.

We are continually looking to improve our national programmes and the evidence told us that these screening tests are significantly better than their predecessors and more acceptable to the public.

Leading academics used modelling, where the best available data is used to predict real world events, as the basis for the bowel cancer screening recommendation. We subsequently spent a great deal of time making sure stakeholders were confident in the accuracy of the data and quality of the evidence.

Advantages of FIT include that it:

• only requires one sample compared with the 2 samples on 3 separate occasions needed for gFOBt

• detects human haemoglobin at lower concentrations and with much less interference than gFOBt

• detects more cancers, and particularly advanced adenomas (tumours that may become cancers), and has fewer false positives

• results in the removal of many more polyps at colonoscopy that might otherwise grow into cancers

• reduces the number of repeat tests needed, as there are no borderline results

The NHS Bowel Cancer Screening Programme will continue to change quite quickly. The committee recommended introducing FIT at as low a threshold as possible and this will start at a manageable level, but our aspiration is to drive the threshold down with time.

We will also be commissioning evaluation into the most effective combination of FIT and the one-off flexible sigmoidoscopy test, also known as bowel scope screening.

Primary HPV screening also has several advantages compared with the cytology (smear) test.

Evidence shows HPV testing will identify more women at risk of cervical cancer than cytology and therefore prevent more deaths from cervical cancer. It has the added advantage that women may not need to come for screening as often in the future.

The UK NSC’s work on the cervical screening recommendation also relied on modelling work and collaboration with stakeholders across the NHS and academia.

There are some outstanding issues relating to:

• the best pathway for women who have persistent HPV but no changes in their cervical cells

• how to test self-sampling and how we can support pilots to ensure it is better accepted by women

Our very large programmes give us a huge advantage when it comes to doing this research so that we can develop good quality evidence working with academic partners and clinicians. This work on the cervical programme evidence will continue to feed into future UK NSC recommendations.

The committee’s decisions this year also included recommending against screening for obesity in children.

Some felt this undermined the message that obesity is a big and increasing problem, but we were clear that obesity is a public health issue for the 4 nations.

The review focused attention on the evidence relating to:

• the persistence of obesity into adulthood

• effective treatments

There is no evidence as yet that national population screening would be a useful addition to current policies and programmes aimed at reducing obesity and its effects.

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

I’d also like to thank everyone in the PHE screening team, along with our commissioning and clinical colleagues for the immense amount of effort, humanity and thought they have given to responding to the issues raised by the failure to invite some older women to the breast screening programme and the independent review that followed.

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.

To date, the UK NSC has looked at 109 screening topics:

• 35 antenatal

• 29 newborn

• 15 child

• 32 adult

Of those, is has recommended screening for 30 topics, not recommended screening for 68 topics, and made other recommendations for 11 topics (for example first time reviews).

From 1 April 2018 to 31 March 2019, the UK NSC looked at 13 screening topics:

• 4 antenatal

• 1 newborn

• 3 child

• 5 adult

Of those, it has recommended screening for 3 topics and not recommended screened for 10 topics.

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 2018 to 31 March 2019

Director’s office

Director’s office	£ 1,000s
Pay costs	1,309
Non-pay costs	180
Ad hoc screening development projects	132
Staff: breast screening incident	251
Total	1,872

Evidence review team

Evidence review team	£ 1,000s
Pay costs	324
Non-pay costs UK NSC reviews	15
UK NSC reviews	525
Total	865

Evidence reviews

Antenatal and postnatal mental health problems

The condition

More than 80,000 women per year in the UK might experience mental health problems during pregnancy and soon after.

Such problems include various types of depression and anxiety. They can affect women in

different ways and need different types of treatment and support.

If untreated, these problems can harm the woman, her baby and her family. They can also cause long term problems for children throughout their childhood or later in life. The aim of a screening programme in pregnancy would be to reduce the possibility of these problems.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend screening for antenatal and postnatal mental health problems. Read full UK NSC recommendation on screening for postnatal depression.

Reasons

The evidence review concluded that even if common mental health problems during pregnancy, and soon after, cause harm to the mother and her child, there is a lack of evidence on the effectiveness of screening tests in identifying all such conditions.

Also, the evidence on the efficacy of treatments is not good enough to make recommendations. It is not clear which of the treatments work well for different common mental health problems before and after giving birth.

Currently, mental health services in the UK are not fully implementing the guidance on how to look after these women. Most pregnant women are asked about their mental health, but the help offered varies across services.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Bowel cancer screening

The condition

Colorectal cancer, commonly known as colon cancer, or bowel cancer, is any cancer that affects the last section of the digestive system. This usually means the colon (large bowel) or rectum (back passage).

About 1 in 20 people in the UK will develop bowel cancer during their lifetime. It is the fourth most common cancer in the UK, and the second leading cause of cancer deaths, with up to 16,000 people dying each year.

Regular bowel cancer screening has been shown to reduce the risk of dying from bowel cancer by over 16%, with new treatments increasing survival rates. The risk of developing bowel cancer increases with age. Eight out of 10 people who are diagnosed with bowel cancer are over 60.

UK NSC recommendation

Following a review of the evidence, the UK NSC recommended:

• faecal immunochemical testing (FIT) should be offered at 50 to 74 years at as low a threshold as possible

• commissioning research into combinations of FIT and flexible sigmoidoscopy (FS)

Read full UK NSC recommendation on bowel cancer screening in adults.

Reasons

There is robust evidence from high quality randomised controlled trials that guaiac biennial faecal occult blood test (gFOBt) screening and one-off FS screening both reduce colorectal cancer mortality and that FS also reduces the incidence.

The School of Health and Related Research was commissioned to produce a disease and cost model exploring the options for the best combination of FS and FIT.

There is good evidence that very sensitive FIT will find and prevent more cancers, but limited evidence of whether using FIT alone or using FIT with FS will find and prevent more cancers. The committee, therefore, recommended carrying out research into combinations of FIT and FS.

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Cervical screening programme modifications

The condition

High risk human papillomavirus (HPV) is found in 99.7% of cervical cancers. Over three-quarters of sexually active women will acquire the infection at some time in their lives. It is most common in women under 35 years. Most infections are transient and are cleared by the woman’s immune system.

Currently, the cervical screening programme offered to women aged 25 to 64 uses cytology. It only tests for HPV in women who have been found to have a low grade abnormality or have had treatment for an abnormality.

Evidence suggests screening for HPV will be a more effective way to let women know whether they have any risk of developing cervical cancer. It will reduce the number of women who would need to go on to have cytology screening to those who are HPV positive only.

UK NSC recommendation

The UK NSC recommends that the NHS Cervical Screening Programme should adopt the test for HPV as a primary screening test. Read full UK NSC recommendation on cervical screening.

Reasons

The HPV vaccination offered to girls aged 12 to 13 strengthens the rationale for primary HPV screening. The vaccination will offer prevention of HPV and result in a falling number of women who remain at risk of catching HPV and developing cervical cancer.

A primary test for HPV will save more lives by determining a woman’s risk earlier. Work to assess extending the screening interval with HPV screening is ongoing. This will follow once confirmatory pilot data and other international evidence is reviewed by the UK NSC.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Chronic obstructive pulmonary disease (COPD)

The condition

COPD covers a group of lung conditions that get worse with time. The main symptoms are breathing difficulties and persistent coughing. Smoking tobacco is the main cause of COPD.

An estimated 3 million people in the UK have COPD. About 2 million of these will not know that they have the disease. Without quitting smoking or receiving medical treatment their quality of life will worsen.

A screening programme would aim to identify people with COPD early. For this to be useful it should be clear that screening improves smoking quit rates or that medical treatment improves outcomes.

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 COPD. Read full UK NSC recommendation on COPD.

Reasons

A national screening programme for COPD is not recommended by the UK NSC because:

• current tests are not reliable in people who have no symptoms of COPD and many people

would be wrongly told they could have COPD

• quitting smoking is the best intervention, but it is not clear if people with few or no symptoms of COPD would quit if they were told they have it

• there is not enough evidence to understand if medicines are effective for people with mild COPD which would be detected by screening

There is not enough evidence to show if screening would improve health outcomes.

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Dementia

The condition

Dementia is a term used to describe brain diseases that cause ongoing decline in thinking skills and the ability to carry out everyday activities such as washing and dressing.

Dementia can also result in mental health problems and cause changes to the personality and behaviour in those affected by the condition. Dementia becomes more common as people age. About 10% of people over the age of 70 have dementia.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC does not currently recommend universal screening for dementia. Read full UK NSC recommendation on screening for dementia.

Reasons

There are no screening tests that can accurately identify people in the general population with dementia who do not already have symptoms. Research on better tests for dementia is ongoing but is in the early stages.

There is no evidence of effective treatments in people with dementia.

The public and healthcare professionals have mixed views on whether screening for dementia is acceptable, mainly because of the lack of treatment and concern about the stigma associated with being diagnosed with the condition.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Fragile X syndrome

The condition

Fragile X syndrome is the most common identifiable cause of inherited intellectual disability and autism spectrum disorders.

It arises from changes on the X chromosome in a specific gene that normally makes a protein necessary for brain development.

Boys are usually more severely affected than girls as they have only one X chromosome. Girls have a second X chromosome, which can compensate for problems with the faulty one. However, some girls can be quite severely affected while some boys are only mildly affected.

UK NSC recommendation

Following an evidence map exercise, the UK NSC did not commission an update review on antenatal screening for Fragile X syndrome and agreed this topic should be reconsidered in 3 years’ time. Read full UK NSC recommendation on screening for Fragile X syndrome.

Reasons

Problems with the information given by a positive test do not enable women and their partners to know if the child will go on to develop symptoms. This is a problem as termination of pregnancy would potentially be an option arising from antenatal screening for this condition.

The test is labour intensive and therefore unsuitable for a screening programme. There are alternatives, including specially designed kits, but the evidence for these is very limited.

There is no good evidence that screening during pregnancy would mean that treating or managing the condition in the infant would be an improvement on diagnosis in childhood.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Gaucher disease in newborns

The condition

Gaucher disease is a rare genetic disease. There are 3 types of Gaucher disease (type 1, type 2 and type 3). Most people with Gaucher disease have type 1 disease.

Symptoms can range from very mild, to life threatening. Gaucher disease can cause death in early childhood.

Typical symptoms include enlarged liver and spleen, bone pain, fatigue, and easy bruising.

Symptoms can appear in childhood or adulthood, and some people with type 1 Gaucher disease remain unaffected.

Individuals who develop symptoms in early childhood generally go on to have more severe symptoms than those who present later in adulthood.

Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are used to reduce the severity of symptoms in children with type 1 Gaucher disease.

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 Gaucher disease in newborns. Read full UK NSC recommendation on screening for Gaucher disease in newborns.

Reasons

The review looked at whether children with type 1 Gaucher disease benefit from treatment before symptoms develop.

The review did not find any research into whether there is benefit in treating patients with type 1 Gaucher disease before symptoms develop. Because of this, it is unclear whether earlier treatment after screening, but before symptoms develop, would deliver more benefit than later treatment after symptoms develop.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Genital herpes in pregnancy

The condition

Genital herpes is caused by the herpes simplex virus (HSV). There are two types of HSV.

HSV-1 usually causes cold sores but genital infection is also possible. HSV-2 is a sexually transmitted infection.

HSV can be passed from a mother who has genital herpes to her baby during pregnancy or birth. Women who get an HSV infection for the first time late in pregnancy have the greatest risk of passing HSV to their baby.

A herpes infection in a newborn baby is called neonatal herpes. Neonatal herpes is very rare but can be fatal.

The aim of screening pregnant women for HSV would be to prevent neonatal herpes infection.

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 genital herpes in pregnancy. Read full UK NSC recommendation on screening for genital herpes.

Reasons

Uncertainty remains over the:

• number of pregnant women in the UK who have HSV-1 and HSV-2

• accuracy of screening tests for HSV-1 in pregnant women

• accuracy of screening tests for HSV-2 in UK pregnant women

• effectiveness of interventions to prevent pregnant women getting HSV infection or passing the infection on to their baby

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Hearing loss in children at school entry

The condition

Hearing problems can affect the development of a child’s speech and communication skills. They can also affect their behaviour and ability to learn. Since 2006, most children are screened for hearing loss when they are born. But children with hearing loss can be missed, or children can develop hearing loss when they are older. Some children are screened for hearing loss when they start school.

UK NSC recommendation

Following a review of the evidence against strict criteria, the UK NSC decided that there is not enough evidence to change the current recommendation. Read the full UK NSC recommendation on screening for hearing loss in children.

Reasons

The UK NSC previously recommended that screening children for hearing loss when they start school should continue where it was already implemented.

However, research was recommended to explore the continuing value of such a screening programme. This is because the introduction of the newborn hearing screening programme made the value of screening at a later age uncertain. Research was necessary to understand this before making a final recommendation on the future of school age screening.

This review update still did not find enough evidence to make a well informed recommendation about screening for permanent hearing loss at this age. This is because there are still uncertainties about:

• whether school screening would detect more permanent hearing loss than areas which

do not screen

• the accuracy of screening tests for permanent hearing loss in children starting school

• the advantage of screening children at school entry age in terms of helping children

develop

For these reasons, the UK NSC recommended that the current situation should continue.

Next review date

Due to start between 1 April 2022 and 31 March 2023.

Hepatitis C in pregnancy

The condition

Hepatitis C is a virus that spreads through contact with infected blood or other body fluids.

This could be during a blood transfusion, tattooing, body piercing or when injecting drugs. Hepatitis C is a major global health problem affecting 2% to 3% of the world’s population. People can live with hepatitis C for many years without any symptoms. Between 1% and 5% develop liver cancer.

Hepatitis C in pregnancy can increase the risk of pregnancy complications and miscarriage.

The main cause of hepatitis C infection in children is transfer of the virus from mother to child.

In about 20% of these children the infection clears without treatment. In 80% of children the infection continues into adulthood.

A national screening programme would aim to find pregnant women with hepatitis C to prevent pregnancy complications and reduce the risk of passing the virus to the child.

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 the hepatitis C virus in pregnancy. Read full UK NSC recommendation on screening for hepatitis C in pregnancy.

Reasons

There is uncertainty about the:

• number of pregnant women in the UK who have hepatitis C

• factors that increase the risk of a mother transferring the hepatitis C virus to her child

• accuracy of screening tests for hepatitis C in pregnant women

• effectiveness of treatments for pregnant women with hepatitis C and their children

• ability of the drugs to prevent the baby catching hepatitis C from the mother in the womb

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Hypertension in children and young people

The condition

Hypertension is when a child’s blood pressure is higher than the normal level for children of the same age and sex. There is currently no international agreement to define what an abnormal blood pressure level should be in order for it to be considered as hypertension in children and young people.

Children with hypertension are also likely to have hypertension as adults. This can cause problems such as heart disease and stroke in later life. Screening may help identify children with primary hypertension. They could then be helped to reduce their blood pressure. The aim of this would be to prevent health problems in later life.

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 screening of high blood pressure (hypertension) in children and young people. Read full UK NSC recommendation on screening for hypertension.

Reasons

There is some evidence which suggests that high blood pressure in children may result in early signs of ill health. However, it is not known how big a problem this is in the UK.

An accurate screening test for high blood pressure in children and young people is still not available.

The best way to avoid the early signs of ill health and longer term disease in adults is not known.

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Obesity in children

The condition

The term obese describes a person who is very overweight, with a lot of body fat. It can cause serious health problems such as heart disease and diabetes.

Obese children may become obese adults and develop these health problems. Screening children for obesity would identify those who are obese. The main purpose of this would be to help them manage their body mass index (BMI) in order to prevent health problems in later life.

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 obesity screening in children. Read full UK NSC recommendation on screening for obesity in children.

Reasons

The UK NSC looked at research on whether screening for obesity in children under 5 and

between 7 and 11 years of age improves health in the long term.

Interventions are available for overweight and obese children. These usually aim to increase physical activity and change diet. Sometimes they include parents as well as children. These have resulted in small reductions in weight over a short period of time. But it is not clear if the weight reductions would continue over a longer period of time without ongoing support.

The studies did not look at children found through screening. This is important as children found in this way might respond in a different way to the offer of these interventions.

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Spinal muscular atrophy (SMA)

The condition

Spinal muscular atrophy (SMA) is a genetic disease that makes muscles weak. It gets worse over time.

SMA can be fatal if it affects the muscles that control breathing. This is due to progressive degeneration of nerve cells called alpha motor neurons in the spinal cord, which transmit impulses from the brain to the muscles in the chest and limbs.

There are 5 different types of SMA. They range from type 0, which is the most severe, affects newborn babies and is often fatal before the age of 6 months, to type 4 (stable and mild disease), which affects adults and usually only causes mild problems.

About half of people with SMA have type 1.

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 carrier or newborn screening for spinal muscular atrophy. Read full UK NSC recommendation on screening for SMA.

Reasons

There is very limited evidence about how acceptable a screening programme would be.

There is no evidence on how to support individuals who need to make difficult decisions following carrier screening.

There is a lack of information on the reliability of screening tests for SMA.

No effective treatments for SMA were identified in an unsymptomatic population. Currently, only palliative support can be offered. However, the review identified evidence on a new treatment for SMA, called nusinersen, that can improve symptoms in children with SMA.

The evidence review did not find information on the effectiveness of nusinersen in children without symptoms and there is no evidence on the long-term effects of this drug.

Next review date

Due to start between 1 April 2021 and 31 March 2022.

Evidence mapping approach

To try to make the evidence review process more efficient, the UK NSC evidence team has started trialling a new evidence mapping approach.

Evidence maps are a way of scanning published literature to look at the volume and type of evidence about a topic. These maps can help the UK NSC decide if there is currently enough evidence available to commission a more in-depth review of the topic.

This approach may provide a reliable and efficient way of making sure the UK NSC keeps its recommendations up to date.

2018 annual call for topic submissions

The UK NSC received 10 submissions for topics to consider for screening following the 2018 annual call.

1. Annual screening of 30 to 75-year-olds for all cancers: the evaluation group agreed that this did not meet the criteria for formal consideration due to lack of evidence on outcomes.

2. Screening for cutaneous melanoma in adults: this is a new condition which falls within the remit of population screening. The evaluation group agreed that an evidence map would be undertaken to scope the volume and direction of any available published peer-reviewed evidence on cutaneous melanoma.

3. Screening for neurofibromatosis type 1 (NF1) in the newborn, at 12 months and 2 years: this is a new condition which falls within the remit of population screening. The evaluation group agreed that further assessment would be undertaken in the form of an evidence map to scope the volume and direction of any available published peer reviewed evidence on NF1.

4. Screening for Klinefelter syndrome in newborns and adolescents: Klinefelter syndrome (sometimes called Klinefelter’s, KS or XXY) is where boys are born with an extra X chromosome. This is a new condition which falls within the remit of population screening.

The evaluation group agreed that further assessment would be undertaken in the form of an evidence map to scope the volume and direction of any available published peer reviewed evidence on Klinefelter syndrome (XXY).

5. Newborn screening for 22q11 Deletion Syndrome: DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. The evaluation group agreed that further work would be done by the evidence team to check the references to understand the volume of literature available.

6. Newborn screening for Beta Thalassaemia: this is a submission for a major programme modification and should therefore be handled in accordance with this process.This is a proposal for beta thalassaemia major to be screened for as a condition rather than reported as an incidental finding within the existing NHS Sickle Cell and Thalassaemia Screening Programme.

7. Screening for lung cancer in adults: this condition is already on the UK NSC’s list of conditions which is reviewed regularly as per its published process. No further action is required.

8. Screening for risk of sudden cardiac death: this condition is already on the UK NSC’s list of conditions which is reviewed regularly as per its published process. No further action is required.

9. Cascade screening for Nonsyndromic Thoracic Aortic Diseases (NS-TAD): the evaluation group agreed that no further action is needed to look at this as it relates to cascade testing and not population screening.

10. Carbon monoxide (CO) based screening to increase smoking cessation rates in pregnancy and improve pregnancy outcomes: this falls within the remit of the UK NSC. It was agreed that the UK NSC should undertake a rapid review to look at CO screening in pregnancy.

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 (appointed 2019)

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 Greg Irving, Clinical Lecturer in General Practice, University of Cambridge (stepped down 2018)

Dr Jim McMorran (GP), appointed 2019

Mrs Margaret Ann Powell, Patient and Public Voice

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

Four country representatives

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

Dr Ailsa Wight, Deputy Director Health Protection, Department of Health and Social Care

Sarah Manson, National Screening Programmes, Scottish Government

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

Observers

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

Sam Cramond, NHS representative

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

Tim Elliott, Senior Cancer Policy, Department of Health

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

Dr Nick Hicks, National Co-ordinating Centre for HTA

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

Charles O’Hanlon, Assistant National Director, Head of Screening, National Screening Service, Ireland

Jean Nicol, Screening Team, Emergency Preparedness and Health Protection Policy, Global

and Public Health Group, Department of Health and Social Care

Dr Sue Payne, Public Health, Scottish Government

Secretariat

Professor Anne Mackie, Director, PHE Screening

John Marshall, Evidence Lead, UK NSC

Jo Harcombe, National Lead for Stakeholder Information and Professional Education and

Training, PHE Screening

Nick Johnstone-Waddell, Public and Professional Information Lead, PHE Screening

Zeenat Mauthoor, Secretariat Expert Committee and DH Policy Liaison Manager, UK NSC