Guidance

[Withdrawn] UK NSC status of annual call topics

Published 1 September 2021

This guidance was withdrawn on 4 August 2022

This page has been withdrawn because it is out of date. See UK NSC annual call: submitting a screening proposal for current information.

An update to this publication is pending following the launch of the expanded remit of the UK National Screening Committee.

This is an alphabetical list of all conditions which have been submitted to the UK National Screening Committee (UK NSC) as part of its annual call for topics. It shows the current status of each submission. The date in brackets after the condition is the year that the submission was made.

Numerical

22q11 deletion syndrome in newborns

Current status: further review completed

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.

5q spinal muscular atrophy in newborns (2019)

Current status: no further review required

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.

A

All cancers in 30 to 75-year-olds (2018)

Current status: no further review required

The evaluation group agreed that this did not meet the criteria for formal consideration due to lack of evidence on outcomes.

Anal cancer (2016)

Current status: no further review required

Anal cancer is already on the list of topics and is due for review in 2017 to 2018. A document is being prepared on whether the topic should be retained on the list. This is because the condition is confined to high risk groups and may not be within the remit of the UK NSC.

It is proposed that this topic should not be taken any further as it falls outside the UK NSC’s remit.

Auditory neuropathy spectrum disorder in newborns (2017)

Current status: no further review required

The evaluation group agreed to review the proposal for an additional hearing condition as a programme modification.

B

Beta thalassaemia in newborns (2018)

Current status: no further review required

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 formally screened for rather than be reported as an incidental finding within the existing newborn screening for sickle cell disease.

Biliary atresia (2020)

Current status: ongoing work outside of annual call process

The UK NSC received a proposal to introduce screening for biliary atresia using stool colour cards. These are cards that explain the colour of stools, ranging from those that are healthy to those that may require further investigation. Biliary atresia was already on the UK NSC list, so was not a new topic.

However, as work was being commissioned to look at biliary atresia in the regular UK NSC review cycle, it was agreed that additional questions on the use of stool coloured cards could be added to the commissioning document.

C

Carbon monoxide levels (2018)

Current status: further review completed

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.

Cerebral adrenoleukodystrophy (cCALD) in newborns (2016)

Current status: no further review required

The initial review carried out at the time found a number of issues. These include:

1. The screening test is still experimental. Case control type studies are the mainstay of accuracy estimates and its use in a population setting is currently being evaluated in the New York State newborn screening programme.
2. The test will identify a number of boys with the genetic mutation who will not develop cCALD. In addition, the test will identify babies with conditions, other than ALD, for which there are no interventions.
3. There is uncertainty on the ability of the diagnostic pathway to distinguish those requiring HSCT from those who do not.
4. There is uncertainty on the balance of long-term benefits and harms of treatment with HSCT.

Although ALD was not taken forward with a more detailed evidence summary at the time, the UK NSC agreed to add adrenoleukodystrophy to the list of conditions that will be reviewed as part of the regular update cycle.

Cutaneous melanoma in adults (2018)

Current status: further review completed

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

D

Dyslexia in school-age children (2019)

Current status: further review completed

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.

This concluded that the volume and type of studies available about the accuracy of screening tests specifically for dyslexia is insufficient to justify a further review of the evidence.

E

Endometrial cancer (2017)

Current status: further review completed

This submission was handled as a new topic as the UK NSC had not looked at the evidence to screen for endometrial cancer before. A scoping exercise was undertaken which revealed that screening is not recommended. It was therefore agreed that this would not to be added to the UK NSC list of conditions to screen for.

F

Fetal presentation in pregnancy (2019)

Current status: topic added to recommendations list

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 the 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.

The evidence map recommended that the topic should be added to the UK NSC recommendations list, so that it can be reconsidered in 3 years’ time or sooner if significant evidence should be published before this time.

H

Hypercholesterolaemia in children (2016)

Current status: no further review required

This topic is already on the list that the UK NSC reviews and it was reviewed in 2016. The submission was prompted by the publication of a study of screening in children aged 2. It is proposed that this topic should be handled as an early update request.

I

Increased risk of stroke in children with sickle cell disease (2017)

Current status: no further review required

The evaluation group agreed that the proposal to diagnose children with sickle cell disease (SCD) who are at a higher risk of stroke and to offer early intervention was outside the remit of the UK NSC but was part of the care pathway for children diagnosed with SCD. Although no further action was required by the UK NSC it was agreed that the issue would be escalated to NHS England and NICE.

K

Keratoconus in children and young adults with Down’s syndrome (2017)

Current status: no further review required

The evaluation group agreed that this proposal falls outside the UK NSC’s remit of whole population screening programmes. Therefore the proposal was sent to the Down Syndrome Medical Interest Group and NICE to consider.

Klinefelter syndrome (2018 and 2020)

Current status: no further review required

The 2020 submission on screening for Klinefelter syndrome sought the UK NSC’s input as to whether more work should be commissioned.

The UK NSC received a proposal to look at Klinefelter syndrome in 2018. An evidence map was commissioned to scope the volume and direction of the evidence for this condition since it had not been previously considered. The UK NSC considered the evidence map, which looked at 3 important questions, at its meeting in November 2019.

The evidence map only found 5 potential references which related to the incidence and prevalence of the condition. It found no evidence on the 2 other questions, which looked at any type of potential screening test in newborns, children or adolescents. There were no national or international guidelines or recommendations on screening for Klinefelter syndrome.

As the evidence base was limited, the committee agreed that it did not meet the UK NSC’s criteria for a population screening programme and further work should not be commissioned.

L

Liver cirrhosis in high risk groups (2019)

Current status: no further review required

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.

Lung cancer in adults (2018)

Current status: no further review required

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.

N

Neurofibromatosis type 1 (NF1) in newborns (2018)

Current status: no further review required

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

Neuronal ceroid lipofuscinosis type 2 (CLN2) (2020)

Current status: further review in progress

This was a new topic which the UK NSC had not reviewed before and met the initial triage step. This is the first step of the annual call process where conditions relevant to the UK NSC’s remit are considered.

An evidence map is being commissioned which looks at 3 important questions covering:

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

Nonsyndromic thoracic aortic diseases (NS-TAD) (2018)

Current status: no further review required

The evaluation group agreed that no further action is needed to look at this as it relates to cascade testing and not population screening.

P

Pressure reducing carotid stenosis in adults over 50 (2019 and 2020)

Current status: no further review required

It was noted that the UK NSC had looked at this topic following a 2019 annual call for topic submission and an evidence map had been commissioned. The recommendation of the 2019 evidence map was that further work should not be commissioned. Given the recent work undertaken on this topic and that no new evidence was submitted with the new proposal, it was agreed that no further work should be commissioned at this time.

Prostate cancer (2016)

Current status: no further review required

Prostate cancer is already on the list of topics and was reviewed in 2016. The proposal is to add MRI as a risk refinement test following the identification of eligible men using a risk calculator. The risk calculator is based on the outcomes of the STHLM3 study. This study was considered in the last UK NSC review.

It is proposed further consideration of this approach should be deferred until the next review of prostate cancer screening. The proposed strategy should be considered in the scoping work at the beginning of the review project.

R

Risk of sudden cardiac death (2018)

Current status: no further review required

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.