UK National Screening Committee Newborn Screening for Severe Combined Immunodeficiency (SCID) - Consultation Responses November 2017

Sep 30, 2026

Uploaded by nayy☆

A November 2017 consultation document for the UK National Screening Committee addresses a proposal for a practical evaluation of newborn screening for Severe Combined Immunodeficiency (SCID) in the NHS, following a three-month public consultation. It outlines evaluation aims, summarizes the 2013 review rationale, and presents evidence on incidence, test accuracy, achievable cut-offs, treatment pathways, and modelling of costs and outcomes. It reports findings on cost effectiveness, expected case detection, and likely numbers of false positives, and details the consultation process and stakeholder responses.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages50

Reading Time2 h 6 min

AccessFree to download

Aim

Current recommendation

Evidence Summary

Consultation

UK National Screening Committee Newborn screening for Severe Combined Immunodeficiency (SCID) November 2017 Aim 1. To ask, following the three month public consultation on screening for SCID, that the Chair of the UK National Screening Committee (UK NSC) approves the proposal for a practical evaluation of newborn screening for SCID to be undertaken in the NHS. 2. At the October 2017 meeting it was agreed that Chairs action would be taken on this issue and reported to the February 2018 UK NSC meeting if no major opposition to a practical evaluation of SCID came as a result of the consultation. This document was considered and approved by individual members of the UK NSC, the Chair of the Fetal, Maternal and Child Health Reference Group and the Director of Screening. 3. The aims of an evaluation would include: 􀁸 define a cut off for screening and report on clinical outcomes which are achievable in the timeframe and realistic given the rarity of the condition 􀁸 identify and undertake research priorities, for example to understand more about the impact of false positive results and the viability of alternatives to universal screening 􀁸 clarify the logistics and costs of screening and outcomes monitoring as a basis on which to revisit the cost effectiveness evaluation 􀁸 explore the possibility of international collaboration with ongoing pilots and research projects relating to SCID. Current recommendation 4. The last UK NSC review on newborn screening SCID was published in 2013 and the current UK NSC recommendation is that systematic population screening for SCID is not recommended. 5. The previous review concluded that SCID was a promising candidate for a screening programme but further information on the following was needed: 􀁸 the epidemiology of condition in the UK 􀁸 the performance of the screening test in the UK 􀁸 the management and outcomes of babies who are detected by screening but do not have SCID 􀁸 the clinical and cost effectiveness of screening compared to current practice Evidence Summary 6. The current review is comprised of two documents: 􀁸 a set of systematic reviews which look at the evidence relating to three areas identified by the previous review; the incidence of SCID and its subtypes; the test accuracy of the TREC test populations studies of screening for SCID; and whether early hematopoietic stem cell transplantation (HSCT) leads to better outcomes compared with late HSCT in SCID patients 􀁸 the results of a modelling exercise and cost effectiveness evaluation. 7. Both the systematic reviews and the cost-effectiveness evaluation were undertaken by the School of Health and Related Research, The University of Sheffield, in accordance with the triennial review process [https://legacyscreening.phe.org.uk/scid](https://legacyscreening.phe.org.uk/scid). 8. The systematic reviews found: a. An estimated current UK incidence rate of 1 in 48,933 and that SCID is a severe condition which is invariably fatal if left untreated. Criterion 1 met. b. There is a simple and safe test for screening for SCID, but due to the low positive predictive value of the TREC Assay and uncertainty about the number of false positives which may be identified in the UK through a screening programme, criterion 4 is only partially met. Criterion 4 partially met. c. A suitable cut-off for a UK screening programme can be defined. The review suggested that a population study in the UK would provide a more precise cut off than the single, small, study included in the review. Criterion 5 partially met. d. Whilst there are guidelines for the treatment of SCID, guidelines for the treatment of patients with low TREC count who do not have typical SCID are unclear. Criterion 9 partially met. e. HSCT is an effective treatment for SCID. Criterion 10 met. 9. The cost effectiveness and modelling exercise found that: 􀁸 A PCR based screening strategy was estimated to cost £3.2 million / year and to ha

FAQs

What is the purpose of the November 2017 consultation document?

To seek UK National Screening Committee approval for a practical evaluation of newborn screening for SCID in the NHS, following a three-month public consultation.

What did the evidence summary conclude about screening test performance and criteria?

A simple and safe TREC-based screening test exists, but the low positive predictive value and uncertainty around false positives mean criterion 4 is only partially met.

How did the modelling exercise estimate costs and impacts of a PCR-based screening strategy?

A PCR-based strategy was estimated to cost £3.2 million per year with a high likelihood of being cost effective, with modelling suggesting infections-related deaths could drop from eight to around two without screening versus with screening.

Sep 30, 2026

Uploaded by nayy☆