Transparency data

UK NSC minutes June 2025

Updated 7 August 2025

These minutes are draft.

This meeting was held on 26 June 2025 at Victoria Quay, Edinburgh and via Microsoft Teams.

Attendees

Members

• Professor Sir Mike Richards – Chair

• Dr Graham Shortland – Consultant Paediatrician (Vice-Chair)

• Professor Natalie Armstrong – Implementation Scientist 

• Eleanor Cozens – Patient and Public Voice (PPV)
• Dr Ros Given-Wilson – Chair, Adult Reference Group (ARG)
• Dr Sharon Hillier – Chair, Fetal, Maternal and Child Health Group (FMCH)
• Professor Chris Hyde – Public Health Specialist
• Professor Anneke Lucassen – Clinical Geneticist
• Dr Bethany Shinkins – Test Expert
• Professor Anne-Marie Slowther – Clinical Ethicist
• Professor Sian Taylor-Phillips – Chair, Research and Methodology Group (RMG)

Observers 

• Martin Allaby – Consultant in Public Health, National Institute for Health and Care Excellence (NICE)
• Harrison Carter – Screening Director, NHS England
• Lisa Douet – National Institute for Health and Care Research (NIHR)
• David Elliman – Clinical lead for NHS Newborn Blood Spot (NBS) Screening Programme
• Diane Matthews – Public Health, States of Guernsey
• Zosia Miedzybrodzka – Clinical Lead, Scottish Genomics Network
• James Scully - Assistant Principal Officer, Population Health Screening, Ireland
• Susan Spillane – Assistant Director, Health Information and Quality Authority (HIQA) Ireland
• Angela Timoney – Scottish Intercollegiate Guidelines Network (SIGN) Council, Scottish Government (attended part of the meeting)

UK Health Department officials 

• Carol Beattie – Department of Health, Northern Ireland
• Gareth Brown – Scottish Government
• Alexander Cruickshank – Scottish Government
• Hayley Pareas – Department of Health and Social Care (attended part of the meeting)
• Heather Payne – Maternal and Child Health, Welsh Government

• Ray Smith – Department of Health and Social Care (DHSC)

• Tasmin Sommerfield – National Screening Oversight, NHS Scotland

Secretariat    

• Andy De Souza – Senior Evidence Review Manager, Targeted Screening
• Rebecca Dliwayo – Senior Evidence Review Manager, Horizon Scanning

• Jo Harcombe – Head of UK NSC Information and Engagement Management

• Mike Harris – Head of UK NSC Transparency and Public Understanding

• Peggie Huangfu - Senior Evidence Review Manager
• Ailsa Johnson – Secretariat Network Convenor
• Silvia Lombardo – Modelling Lead
• Anne Mackie – Director of Programmes, UK National Screening Committee
• John Marshall – Evidence Lead
• Carolina Martinelli – Targeted Screening Lead
• Zeenat Mauthoor – Secretariat Expert Committee and Policy Liaison Manager
• Omaer Syed – Senior Evidence Review Manager
• David Thompson – Senior Evidence Review Manager
• Katy Town – Horizon Scanning Lead
• Cristina Visintin – Research Lead

Invited

• Olivier Johnson - Economic Advisor, DHSC (attended part of the meeting)
• Amnon Lahad - Head of the Israeli Preventive Task Force, Chair of the Family Medicine Department, Jerusalem
• Nadia Permalloo – Quality and Improvement Lead, Antenatal and Newborn Screening NHS England
• Yasmin Ritchie – Screening Policy Officer, Scottish Government
• Andrew Rostron – Deputy Director of Screening Antenatal and Newborn Screening (ANNB) and Child Health Information Services (CHIS), NHS England
• Marianne Scholes - Economic Advisor, DHSC (attended part of the meeting)
• Freddy Swift - Apprentice Economist, DHSC
• Lizzie Tempest – Senior Information Analyst, National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
• Praveen Thokala – Senior Research Fellow
• Susan Thompson – Screening Policy Officer, Scottish Government

Apologies from members and observers

• Greg Fell – Public Health Expert

• Steve Powis – National Medical Director, NHS England

Welcome and apologies

The Chair, Prof Mike Richards, welcomed all to the meeting.

The Chair reminded attendees of the confidential nature of the discussions, presentations and papers for the meeting and reiterated that these should not be communicated outside the meeting until their publication on the UK NSC website. 

The meeting was attended by 11 members and quorate.

Apologies were noted from Professor Sir Stephen Powis, Medical Director NHS England, who has stepped down as an observer on the committee.   

The Chair took this time to also inform the wider committee and attendees of his appreciation that several members had agreed to continue to serve on the UK NSC following the end of their term (Prof Natalie Armstrong, Prof Anneke Lucassen, Dr Sharon Hillier, Dr Bethany Shinkins). However, the UK NSC’s public health expert Greg Fell was unable to commit to the second term. This was Greg’s last meeting and, although absent, the Chair expressed his thanks and that of the committee’s for Greg’s unwavering support during his first term and wished him well for future endeavours.

Call for any new declarations of interests

The Chair raised a new declaration of interest as the new chair of the Care Quality Commission (CQC).

No other new declarations of interest relevant to the meeting were raised.

Minutes of the last meeting

The committee approved the minutes from the 27 March 2025 meeting as a true and accurate record.

There were no actions from the March 2025 meeting.

Matters arising – Director’s update

Prof Anne Mackie provided a verbal update on the following topics:

Commissioning routes – NIHR

The UK NSC is now collaborating with NIHR which is funding 3 university partnerships to establish specialist Screening Evidence Synthesis Groups (ESGs). The partnership kicked off in April 2025 which means that the UK NSC can now commission work via the ESGs as well as through the established DHSC process. This is an exciting time as it will not only allow the UK NSC to commission more work but also expands the specialist advice and knowledge the UK NSC needs to make robust evidence-based recommendations to ministers. More information is available via the UK NSC blog.

HPV self-sampling for under-screened women

The committee made the recommendation at its March meeting in support of the introduction of HPV self-sampling for under-screened women in the NHS cervical screening programme. Ministers accepted this recommendation and in England, plans to implement this are now under way.

10 Year Health Plan

The government will soon be publishing the NHS 10-year health plan for England.

[Post meeting note: the NHS 10 year health plan for England: fit for the future was published on the 3 July: 10 Year Health Plan for England: fit for the future - GOV.UK]

Newborn Blood Spot

Work is currently under way to examine methods by which the committee can add and evaluate additional conditions into the NBS screening programme. The National Institute for Healthcare Research (NIHR) has shown interest in progressing this work and discussions are under way. A proposal will be brought to the committee at a later date to discuss.

Stakeholder activity update

Jo Harcombe and Mike Harris, from the UK NSC Secretariat team, gave a presentation on the UK NSC’s recent engagement activities with various charities and organisations, as well as providing the committee with some analytical data from the UK NSC’s online platforms.

An online stakeholder survey looking at the UK NSC stakeholder strategy had recently closed and received a total of 179 responses from people and organisations. The results were mixed, and the team is now examining the feedback and planning stakeholder focus groups to explore some of the areas identified to see if any improvements can be made. The committee noted that overall stakeholders were positive about the UK NSC blogs, masterclasses, recommendations website and UK NSC seminars. Main areas for consideration are around timeliness and transparency of communication and response to consultations. Information about past and future seminars is available on the UK NSC seminars webpage.

In terms of engagement with the UK NSC’s website, the committee noted that the recommendations page had seen significantly higher levels of traffic, with a spike in visitors viewing the prostate recommendation page following the BBC coverage of prostate cancer. Blog subscribers continue to increase, with the UK NSC now having over 2,500 registered. The most read blog posts were on HPV validation and seminar announcements.

Non-Invasive Prenatal Testing (NIPT)

Nadia Permalloo, Andrew Rostron and Lizzie Tempest from NHS England joined the meeting and provided a confidential presentation to the committee with an update on the progression of offering non-invasive prenatal testing (NIPT) as part of the antenatal screening programme pathway for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. This included an overview of the data from England following the UK NSC’s positive recommendation to add NIPT to the existing NHS screening programme for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome in England.

NIPT is a blood test that is a second stage screening test offered to pregnant women whose initial combined or quadruple screening result shows that they have a higher chance of having a baby with one of the 3 conditions (‘higher chance’ is a result that indicates a greater than 1 in 150 chance). The work that is being carried out is to offer this additional test to support women making an informed choice about their pregnancy and monitor the effect that this additional offer has within the wider screening programme.

The committee firstly noted the sensitive and emotive responses the offer of NIPT elicited from various groups. The UK NSC members appreciated NHS colleagues’ ongoing support and dedication to ensure this screening test is offered, as all antenatal screening tests are, to provide women with information to support personal choices about their pregnancy. Secondly, the committee reviewed the complex findings to date and acknowledged that from the data collected and presented based on England alone, it indicated that NIPT is seen as a welcome step in the programme that offers women the opportunity to have an extra screening test before considering an invasive diagnostic test.

The committee recognised the value of the ongoing work in NIPT across the UK and supports the continuation of this screening offer and ongoing monitoring of its progress, as appropriate, and supports 4 nations sharing of work. The committee thanked Nadia, Andrew, Lizzie and the wider team for overseeing this important yet complex work in screening.

Spinal muscular atrophy (SMA) model update

Praveen Thokala joined the meeting to present and discuss the updates made on the SMA model.  

The UK NSC currently does not recommend screening for SMA following its review in 2018. However, due to significant changes in the screening landscape, additional drugs being approved for use, and through discussions with stakeholders, the UK NSC is looking more closely at SMA as discussed and agreed at its June 2023 meeting where the committee endorsed a 2-pronged approach to review the case of newborn screening for SMA by:

• developing a new comprehensive and flexible cost effectiveness modelling study for screening for SMA in the UK context
• starting to plan an in-service evaluation (ISE) of screening for SMA in real world NHS services

As per the UK NSC commission, Sheffield Centre for Health and Related Research (SCHARR) developed a de novo model to estimate the cost effectiveness of newborn screening for SMA. The committee noted that the model suggested that when comparing the current practice of no newborn screening and assuming all three 3 drugs are available, newborn screening would prevent each year 2 babies requiring permanent ventilation, around 3 early deaths, and about 30 babies being confined to a sitting state. Newborn screening also enables about 37 more babies to live a broadly normal life. However, newborn screening will identify around 3 babies with 5 SMN2 copies, those who will not be affected until adulthood, if at all, and this may be detrimental to their health and wellbeing. 

Additionally, the committee recorded that the additional cost of £6.7 million is required to operationalise newborn screening for SMA each year which the model suggests is offset by the long-term cost savings due to lower health care costs. All the analyses suggested that newborn screening dominates no newborn screening – newborn screening has higher QALYs and lower costs compared to no newborn screening. The cost savings depended on the treatment mix used and the price of treatments (that is, whether list price was used or whether discounts were applied). 

The screening model findings were that with screening, pre-symptomatic treatment leads to better outcomes than symptomatic treatment, with the benefits of screening linked to fewer children being confined to sitting and not needing permanent ventilation.

Model parameters

• screening test is 99.9% accurate
• the model accounts for different SMN2 copy numbers which influence disease severity
• health states modelled included: permanent ventilation, not sitting, sitting, walking with assistance, and broad range of normal development

Uncertainties

• actual treatment costs (all drugs are under confidential pricing agreements)
• the reimbursement status of nusinersen and risdiplam for symptomatic and presymptomatic treatment of SMA in the future as NICE is currently still appraising these treatments
• short-term outcomes based on very little data
• long-term effectiveness of treatments
• treatment effects waning over time
• health state costs, especially for the sitting health state

The committee confirmed that it was happy with the cost effectiveness model report and noted that an ISE is planned to gather more data. 

The committee agreed that it was happy for the SMA work to continue via the SMA ISE Partnership Board and that stakeholders would be kept up to date on the status of the work via the UK NSC Blog.

The committee thanked Praveen, Silvia and colleagues for all their hard work and commitment which has enabled the UK NSC to have a more robust and evidence-based position on SMA.

Action 1: The UK NSC to publish a blog detailing the work undertaken to look at SMA which will include the SMA model report and other relevant evidence products.

Fetal Maternal Child Health (FMCH) Group

Dr Sharon Hillier, chair of the FMCH group, provided the UK NSC with a verbal update on the group’s work which included SCID, which was still under discussion, as well as highlighting to the committee that a public consultation on metachromatic leukodystrophy (MLD) was open and due to close on 5 August.

When discussing and examining the confidential work on SCID (which the committee debated at length) the committee agreed that it supported the continuation of the SCID ISE. This would allow more time to ensure the SCID tests are robust and sustainable, and to evaluate the cost, feasibility, and accuracy of combining SCID with the introduction of an SMA ISE. More information would be provided in the consultation coversheet.

Action 2: UK NSC to open a public consultation on SCID.

Adult Refence Group (ARG) update

The ARG chair, Dr Ros Given-Wilson, provided an update from the May meeting, which included a presentation on mortality surrogates and discussions on osteoporosis, ethical considerations of the use of AI and the sensitivity thresholds for bowel cancer screening.

It was noted that the UK NSC had opened a public consultation on 17 June which is due to close on 9 September 2025 – see the UK NSC blog ‘Consultation opens on population screening for dementia’

Research and Methodology Group (RMG) update

Dr Sian Taylor-Philips, Chair of the RMG, gave a verbal update on the confidential work from the RMG meeting held in June, with the main discussion around the evidence, evaluation and standards expected for multi-cancer detection tests (MCDs).

Any other business

Urea cycle disorders (UCDs)

Silvia Lombardo confirmed that the evidence map commissioned for the proposal to screen newborns for urea cycle disorders (UCDs) had now been completed. This topic was submitted via the UK NSC’s annual call in 2022, the final evidence map had been shared with the FMCH group and members were content with the report and its conclusion. 

The UCDs evidence map would be shared with members shortly after the meeting to confirm whether they support the recommendation.

Action 3: Evidence map on urea cycle disorders to be shared with UK NSC members and recommendation to be agreed and if possible, to complete under Chair’s Action.

See additional Chair’s Action section below.

Meeting Papers

Some observers noted not having access to all meeting papers makes it difficult to contribute meaningfully to discussions, especially on topics within their expertise.

The Secretariat confirmed that the governance for meetings is aligned with other scientific advisory committees (SACs) as the UK NSC examines and has access to highly confidential data and findings, and it is critical this is handled in a sensitive manner.

As detailed in previous correspondence, observers to the committee can request papers from the Secretariat where relevant.

The committee agreed to review this process to find the right balance between governance, confidentiality and ensuring observers can contribute effectively.

Next Meeting

Thursday 27 November 2025.

Chair’s Action – 2022 annual call proposal on newborn screening for urea cycle disorders (UCDs)

Initial status

In 2022, as part of the annual call for topics, a new topic proposal was submitted asking the UK NSC to consider the introduction of newborn screening for Urea Cycle Disorders (UCDs). This is the name given to a group of rare inherited metabolic conditions caused by a deficiency of one of the main 6 enzymes in the urea cycle where the body struggles to remove excess ammonia, a toxic byproduct of protein digestion, leading to a build-up in the blood which can then cause neurological damage, developmental delays and, in severe cases, coma or death.

The initial proposal suggested screening specifically for ornithine transcarbamylase (OTC) deficiency. The proposal at the time was not progressed as part of the 2022 annual call for topics bundle due to organisational constraints. However, the UK NSC considered it an important topic and was able to re-examine the proposal as part of the 2024 annual call for topics.  It was agreed that work to look at this should form part of a wider review to look at all UCDs that had not been previously reviewed by the UK NSC.

An evidence map was commissioned as the first step and work was undertaken in 2025 by the NIHR Bristol Evidence Synthesis for Screening (BESS). The evidence map looked to address 3 key questions:

• are there any national or international guidelines or recommendations on newborn screening for UCDs?
• what is the volume and type of evidence on the accuracy of newborn screening strategies for UCDs using dried blood spots?
• what is the volume and type of evidence available on the benefits and/or harms of interventions in asymptomatic and/or presymptomatic children with UCDs identified through screening? In other words, does early initiation of treatment following screen detection provide better outcomes for UCDs compared with initiation of treatment following clinical detection?

Reason for Chair’s Action

The evidence map for UCDs was completed in June 2025 and was shared with FMCH members electronically for consideration. The evidence map was not ready to be tabled at the June UK NSC meeting. However, it was raised under any other business to inform members of its imminent arrival. In order not to delay the recommendation of this evidence product being communicated to the submitter, it was agreed that chair’s action could be taken.

The outcome of the evidence map is that the volume and type of evidence relating to UCDs is currently unlikely to give a reliable estimate of the effectiveness of screening. Therefore, conducting a more detailed evidence review at this point is not justified. This is because:

• there is currently insufficient relevant guidance on screening
• the volume of evidence on the accuracy of newborn screening for UCDs is limited. All 6 identified studies reported on one or a combination of selected UCDs. The studies included very small numbers with UCDs and were subject to partial verification bias, as those who tested negative did not undergo a reference standard. This means that these studies cannot reliably estimate sensitivity and specificity. Therefore, further in-depth evidence synthesis is unlikely to lead to substantially different findings compared to this evidence map
• the volume of evidence on the benefits and/or harms of interventions in asymptomatic and/or presymptomatic children with UCDs identified through screening is limited. The evidence map identified 6 retrospective comparative studies and one retrospective single arm study that attempted to assess the impact of interventions in asymptomatic and/or presymptomatic children with UCDs identified through screening; none reported data on harm. Most suggested better outcomes in cases detected through newborn screening compared with clinically diagnosed cases. However, variations in conditions considered and outcomes measured means that further in-depth evidence synthesis would be unlikely to be conclusive

Decision

Both FMCH and the UK NSC noted the findings of the evidence map for UCDs and agreed that no further work should be commissioned at this time. Since newborn screening for all UCDs has not been previously reviewed by the UK NSC, future consideration of this topic would need to be approved through the annual call for new screening topics when more evidence relating to the test accuracy and the benefits of early intervention has been published. In the meantime, the submitter should be notified of this outcome.

Chair’s confirmation

I confirm that I have taken Chair’s Action in relation to the decisions recorded above.

Signed: Prof Sir Mike Richards

Date: 21 July 2025