Transparency data

2018 annual call topic proposals

Published 20 May 2024

The UK NSC received 10 proposals:

1. All cancers in 30 to 75-year-olds

UK NSC decision: submission declined

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

2. Cutaneous melanoma in adults

UK NSC decision: evidence map commissioned, no further work

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

3. Neurofibromatosis type 1 (NF1) in newborns

UK NSC decision: evidence map commissioned, no further work

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

4. Klinefelter syndrome

UK NSC decision: evidence map commissioned, no further work

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.

5. 22q11 deletion syndrome in newborns

UK NSC decision: evidence map commissioned, no further work

22q11 deletion syndrome (also called 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 the evidence team would do more work to check references to understand the volume of literature available.

The following questions were addressed in the evidence map:

1. What is the incidence/prevalence and severity of 22q11.2 Deletion Syndrome in the UK?
2. Is there a simple, safe, precise and validated screening test for 22q11.2 Deletion Syndrome?
3. Are there any national or international guidelines or recommendations on population screening for 22q11.2 Deletion Syndrome?

Six references were included in the final evidence map: one on prevalence in the UK and 5 on the diagnostic accuracy of potential screening tests. No guidance or recommendations on population screening for 22q11.2 Deletion Syndrome were found.

One study conducted in the UK was identified which reported prevalence. However, this study was conducted in 1994 to 1995 and was carried out in a high-risk population so it would not be comparable to the general population.

Five studies on diagnostic accuracy studies were found. However, these considered a range of different tests and were all small case-control studies, which restricted their usefulness in determining the accuracy of the test in a screening population.

It was concluded that the volume and type of evidence related to screening for 22q11.2 Deletion Syndrome was insufficient to justify an evidence summary.

6. Beta thalassaemia in newborns

UK NSC decision: evidence map commissioned, further research recommended

This was a proposal for beta thalassaemia major to be formally screened for rather than be reported as an incidental finding within the existing newborn screening programme for sickle cell disease. The evaluation group agreed to consider this proposal as a major programme modification.

An evidence summary was commissioned. It recommended further areas of research to consider before newborn screening for beta thalassaemia major might be included in the NHS Sickle Cell and Thalassaemia Screening Programme. For example, cost-effectiveness of formally screening for beta thalassaemia major was flagged as an area that would benefit from further research.

7. Lung cancer in adults

UK NSC decision: submission declined

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. Risk of sudden cardiac death

UK NSC decision: submission declined

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. Nonsyndromic thoracic aortic diseases (NS-TAD)

UK NSC decision: submission declined

The evaluation group agreed that no further action was needed because the proposal related to cascade testing, not population screening. Cascade testing is the systematic tracing and testing of family members of an affected patient for a genetic disease. The ‘index case’ is the first person in a family to be identified with the condition. Family members of the index patient are tested to find out if they also have the condition.

10. Carbon monoxide levels

UK NSC decision: evidence map commissioned, no further work

The evaluation group agreed that this proposal was within the remit of the UK NSC and that an evidence summary to look at screening for carbon monoxide levels in pregnancy should be commissioned. Based on the evidence summary, it was not possible to conclude whether screening would increase smoking cessation rates in pregnancy. It was agreed that further work on this topic should not be commissioned as it was unlikely to identify the evidence required to recommend a population screening programme.