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罢丑别听UK NSC聽received 4 proposals:

1. Cerebral adrenoleukodystrophy (cCALD) in newborns

The evaluation group agreed that this proposal was within the remit of the聽UK NSC聽and that an evidence map on screening in newborns should be commissioned. The evidence map identified a number of issues. These included:

1. The screening test was 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 would identify a number of boys with the genetic mutation who would not develop聽cCALD. In addition, the test would identify babies with conditions, other than聽ALD, for which there are no interventions.
3. There was uncertainty on the ability of the diagnostic pathway to distinguish those requiring haematopoietic stem cell transplantation (HSCT)聽from those who do not.
4. There was uncertainty on the balance of long-term benefits and harms of treatment with聽HSCT.

Although聽further work was not justified, the聽UK NSC聽agreed to add adrenoleukodystrophy to the list of conditions to be reviewed as part of its regular update cycle.

2. Hypercholesterolaemia in children

The evaluation group felt this submission was more in keeping with an early update proposal because familial hypercholesterolaemia (FH) is already on the聽UK NSC鈥檚 list of conditions that it regularly reviews.

The submission was prompted by the publication of a study of screening in children aged 2.

罢丑别听UK NSC聽commissioned 2 external assessments to summarise the evidence submitted and consider the impact on the previous review of the topic.聽 These assessments, and their recommendations on whether to bring the FH review forward, were considered by the chair and vice-chair of the聽UK NSC, the Fetal, Maternal and Child Health (FMCH) reference group and the Director of Screening. They agreed with the overall recommendation of these assessments that an early update was not justified.

The main reasons an early update was not justified were:

• an absence of information on the management of children with FH identified by screening
• that the acceptability of the strategy was only evaluated in those with positive results
• clinical and cost effectiveness compared with current practice was not addressed

As a result, the study did not alter the overall recommendation of the previous review.

Although the review of screening for FH in children aged between 1 and 2 was not brought forward, the evidence submitted was subsequently included in the 2019 evidence summary.

3. Prostate cancer

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聽UK NSC听谤别惫颈别飞.

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.

4. Anal cancer

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聽UK NSC.

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