When assessing the evidence base for screening, the UK National Screening Committee (UK NSC) engages extensively with numerous stakeholders, including expert clinicians, academics, patient groups, charities and international screening colleagues.
The committee’s ability to make robust evidence-based recommendations would be seriously compromised without this expert knowledge, experience and advice.
UK NSC stakeholders have a variety of interests, arising from their professional and personal contexts and activities. Having advisers with varied interests is a positive attribute, but it is important that interests are openly declared so they can be appropriately managed.
Today we have published new guidance to help guide individuals who interact with the UK NSC, and to help the secretariat determine what, if any, mitigations might be needed.
Read the new guidance, Mitigating conflicts of interests in UK NSC work.
The committee holds its stakeholders and members to the highest standards of integrity in order to maintain its values of independence, accountability and transparency.
All advisers and members must declare any interests that may conflict, or be perceived to conflict, with their participation in the committee’s work on any screening topics. Some individuals interact with the commercial sector and, while this should be declared, it does not necessarily preclude participation in the work of the UK NSC.
It is the role of the UK NSC secretariat, hosted by the Department of Health and Social Care, to support the application of the committee's declaration of interests guidance. This includes helping to decide what actions may need to be taken to mitigate any declared conflicts.
The newly published guidance summarises the potential mitigations and appropriate actions the UK NSC takes in response to declared conflicts of interest.
It also gives examples of direct, indirect, financial and non-financial interests and how these can be dealt with.
In general, the UK NSC has 3 options on how to act in response to declared interests:
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>The English government has endorsed the UK National Screening Committee's (UK NSC’s) recommendation to introduce newborn screening for hereditary tyrosinaemia type 1 (HT1), a rare genetic condition.
See written ministerial statement from Minister of State Andrew Stephenson.
HT1 prevents the body breaking down a substance called tyrosine found in food and affects approximately 7 babies per year in the UK. Untreated, it can lead to severe complications such as liver and kidney damage, and in some cases the need for a liver transplant.
HT1 will be added to the conditions screened for by the NHS Newborn Blood Spot Screening Programme in England. This will potentially find an additional 3 babies a year who can be offered drug treatment and a special diet before they become symptomatic, reducing the chance of liver disease and the need for liver transplantation.
The English government’s endorsement of the UK NSC’s recommendation is part of its commitment to improve the lives of people living with rare diseases, which is set out in the England Rare Diseases Action Plan.
UK NSC chair Professor Sir Mike Richards:
Currently, parents who do not have a known history of this condition only discover their child has the disease when symptoms become evident. By then, treatment is less effective.
Adding tyrosinemia type 1 to the national NHS screening programme in England will create a fairer, faster, and simpler route to diagnosis and treatment.
View the UK NSC’s full recommendation along with the English government’s impact assessment and equality impact assessment of introducing this policy.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
Regular readers of this blog will know that the UK National Screening Committee (UK NSC) is reviewing the case for newborn screening for spinal muscular atrophy (SMA).
This work has 2 main strands:
The SMA ISE is being overseen by a partnership board. Three expert sub-groups report to that board: a clinical pathway group, a data and methodology group and a laboratory group.
The clinical pathway group includes a broad range of clinical expertise covering genetics, paediatrics, public health, paediatric neurology, midwifery, academia, patient and parent interest groups, Genomics England, NHS England, devolved governments, genetic laboratories and newborn blood spot and metabolic screening.
Paediatrician David Elliman, a clinical advisor to the UK NSC, chaired the first meeting of this group.
Members were reminded of the UK NSC’s guidance on declaring any actual, potential or perceived conflicts of interest and the need for full disclosure to ensure transparency and enable appropriate mitigation measures to be agreed. The UK NSC secretariat will store but not publish the declarations.
The group’s terms of reference, which focus on the clinical pathway for newborn screening for SMA, were agreed. Although the group will not specifically address the laboratory pathway, its work will align closely with that of the laboratory group and some members will sit on both groups.
Dr Elliman presented a draft clinical pathway flowchart for SMA newborn screening which was the focus for this meeting. The UK SMA Newborn Screening Alliance kindly offered to share its existing screening and treatment clinical pathway documents to support further discussions and resource development.
The meeting then received an insight into the national SMA newborn screening programmes of Sweden and the Netherlands with each country outlining a different screening pathway for the reporting of SMN1 deletion and SMN2 copy numbers, and the subsequent referral pathways. The different pathways reflect the available treatment options for asymptomatic individuals in Sweden and the Netherlands.
Professor Jim Bonham, who chairs the SMA ISE expert laboratory sub-group, will collaborate with international colleagues to look in more detail at different laboratory pathways and techniques and to share practice.
As part of the ISE, the clinical pathway expert sub-group will also be responsible for developing, or overseeing the development, of public-facing information, education and training resources.
Members discussed the importance of developing this public-facing information and involving parents in this process. The group underlined the need to raise awareness with professionals and the public to support the whole screening and diagnostic pathway.
Members also discussed the importance of listening to, and actively involving, parents and people with SMA when making decisions related to giving results and the referral pathway. The group will explore this further at future meetings.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>The UK National Screening Committee's (UK NSC's) work to improve the newborn screening evidence base features prominently in the England Rare Diseases Action Plan 2024.
Read the England Rare Diseases Action Plan 2024 in full.
The plan provides an update on actions that are addressing the priorities highlighted in the UK Rare Diseases Framework, which sets out a national vision for improving the lives of people living with rare diseases. Part of the plan focuses on the work of the UK NSC Blood Spot Task Group (BSTG) over the past year.
Every baby in the UK is offered newborn blood spot (NBS) screening for 9 rare but serious conditions. Screening enables timely identification and treatment of babies with these conditions, improving their health, preventing severe disability or even death.
In addition to these 9 conditions, NBS screening for severe combined immunodeficiency (SCID) is currently being evaluated in England, and the UK NSC has recommended the introduction of newborn screening for tyrosinaemia. Work is also under way to assess the case for newborn screening for spinal muscular atrophy (SMA) by developing a new comprehensive modelling study and scoping an in-service evaluation of screening for SMA in NHS services in the UK.
Assessing the case for NBS screening for very rare conditions is difficult because good quality evidence is often lacking. The BSTG was set up to identify practical and innovative approaches to help researchers and others develop this evidence in order to help the UK NSC make robust recommendations.
BSTG work highlighted in the England Rare Diseases Action Plan includes:
In January, BSTG members agreed to commission a review of studies that explore outcomes from newborn screening, focusing on the mechanisms used in those studies to measure and monitor outcomes in the short and long term. See summary notes from January 2024 BSTG meeting.
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]]>The UK National Screening Committee (UK NSC) is responsible for making recommendations that affect millions of people, commit hundreds of millions of pounds of public funds and involve thousands of health care workers.
High quality research and evidence underpins the work of the UK NSC and all the recommendations it makes to ministers in the 4 UK countries.
The UK NSC sets a deliberately high evidential bar for screening because:
The committee only recommends screening if the condition is an important health problem (judged by frequency and/or severity) and available high-quality evidence gives the committee confidence that screening would do more good than harm.
This evidence might be gained through formal research – see UK Policy Framework for Health and Social Care Research, or rigorous evaluation – see Planning an evaluation: evaluation in health and wellbeing.
Researchers often work in partnership with funding organisations such as the National Institute for Health and Care Research (NIHR). Their work should be independent and published (or publishable if there is some urgency) and generalisable to the population at which the screening programme is aimed.
There are important factors to consider for anyone wanting to conduct research or evaluation in screening.
New population or targeted screening programmes, or modifications to existing programmes, should only be implemented in the NHS following a positive recommendation from the UK NSC and ministerial approval.
As well as good quality evidence, the UK NSC takes many criteria into account when considering any proposal, including:
Different organisations have different roles to play in the commissioning, development, and approval of screening research.
The UK NSC reviews the evidence in its role as the independent scientific committee that makes recommendations to ministers and the NHS.
The UK NSC’s expert research and methodology group (RMG) helps provide clarity and specific advice to stakeholders wishing to carry out research that will help the committee. See the UK NSC RMG: submitting research requests guidance for more information.
Requesting advice from this expert group can help researchers who want to have the best chance of their work affecting UK screening policy.
The RMG's role is to examine the protocol and proposal of a study to advise on whether it would be appropriate for the UK NSC to review it and to make sure it addresses UK NSC questions. The RMG does not carry out a detailed critical appraisal of the methodology (for example, the study design and numbers involved). This role is typically carried out by a clinical trials unit, NHS research funding body, NIHR or university.
Involving the RMG helps make sure screening research is best able to answer screening policy questions. For example, the RMG might advise researchers to rethink a proposal if its recruitment strategy would result in the demographics (age, sex, ethnicity) of study participants being different from the demographics of the population eligible for the screening programme involved in the research.
It is important to note that RMG support cannot guarantee UK NSC approval.
The Department of Health and Social Care, which hosts the UK NSC, can commission some targeted academic research, for example what evidence might be needed to implement a new technology.
Roles and responsibilities for health research in the UK are set out in the UK Policy Framework for Health and Social Care Research.
Study sponsors hold overall responsibility for studies and must ensure their study is conducted ethically and lawfully. Researchers themselves are responsible for the design and delivery of research, which should be conducted in line with the principles of good practice set out in the above framework.
The specific governance requirements of a study depend on whether it is research or some other form of evidence generation, such as service evaluation. The Health Research Authority (HRA) has a helpful Is my study research? tool and guidance on what approvals and decisions are needed depending on the type of study.
When conducting research, the specific approvals required depend on the nation where the research is being conducted. See NHS/HSC R&D permissions for details.
The NHS in each of the 4 UK nations has a vital role in determining if screening research is feasible. Unlike other clinical services, NHS screening programmes must comply with nationally set and assured clinical standards to ensure everyone gets the same high-quality care. Researchers are advised to engage with the NHS at an early stage, particularly pre-grant application, to ensure they have thought of the right issues and determine if their proposed study would work in practice.
The NHS in each country reviews any proposed research into existing NHS screening programmes to determine if it can be managed without negatively impacting aspects of current services such as staff capacity, IT, data reporting, service quality and safety.
In England, researchers should engage early with the NHS England Research and Innovation Development Advisory Committee (RIDAC), which advises on:
In Scotland, researchers should engage with the National Screening Oversight Research and Innovation Group (NSO RIG) by emailing nss.nsoresearch&innovation@nhs.scot
This single point of entry to the research pathway in Scotland enables early input from relevant screening programmes and the identification of future challenges.
If the NSO RIG endorses a proposal, investigators can include the endorsement in applications to research funder(s). Investigators should note that endorsements are not a recommendation for funding and do not remove the need for other approvals.
In Wales, researchers should engage with the Screening Division of Public Health Wales NHS Trust in the early stages of their project’s development. The Screening Division delivers the 7 national screening programmes in Wales and additionally manages the Antenatal Screening Wales clinical network. In this capacity, it is able to advise researchers on national screening research priorities, research feasibility, and data access.
Importantly, local NHS screening services involved in any screening studies also need to give approval for research governance, local controlled data sharing, any IT changes, contracting with researchers and communication with patients.
Local commissioners and quality assurance teams may ask local services for assurance that research will not harm delivery.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>The UK National Screening Committee (UK NSC) today opened a consultation on evidence that suggests the quadruple screening test should be added to the antenatal screening pathway for Edwards’ syndrome (trisomy 18).
The UK NSC already endorses the offer of screening for Edwards’ syndrome using the combined test as part of the NHS fetal anomaly screening pathway between 10 and 14 weeks of pregnancy.
The quadruple test, which uses maternal age and 4 biochemical markers, is currently offered to screen for Down’s syndrome only. It is offered to pregnant women who are more than 14 weeks pregnant and have missed the first trimester combined screening test, or in cases when it has not been possible to obtain a nuchal translucency measurement.
A rapid review paper of modelled data, conducted by NHS England, suggests that the quadruple test is accurate enough to test for Edwards’ syndrome in addition to Down's syndrome.
We are therefore asking stakeholders to review the paper and its findings before feeding back on the following question:
Consultation question: Does the evidence from this rapid review demonstrate that the quadruple test is accurate enough to be added to the antenatal screening pathway for Edwards’ syndrome (Trisomy 18)?
To take part in the consultation, please visit: Addition of quadruple test to Edwards' syndrome screening pathway.
Please email your consultation responses to uknsc@dhsc.gov.uk by 5pm on Wednesday 6 March.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>Professor Anneke Lucassen gave a fascinating and engaging insight into the use of polygenic scores at the third UK National Screening Committee (UK NSC) online seminar.
Polygenic scores are calculated by looking at genetic variants across the genome to determine an overall risk of developing a disease.
Prof Lucassen, Director of the Centre for Personalised Medicine, University of Oxford, and a member of the UK NSC, presented a discussion on the potential benefits and limitations of using polygenic scores to calculate the overall chance of developing a disease or condition.
Her presentation, ‘Utility of polygenic scores in healthcare’, was based on the paper Realistic expectations are key to realising the benefits of polygenic scores (BMJ, March 2023).
The presentation was followed by a wide ranging question-and-answer session, where Prof Lucassen drew from her extensive knowledge to engage with the audience, who came from a wide variety of backgrounds.
Delegates were full of praise for Prof Lucassen’s talk, posting comments that included: “Brilliant stuff! Thanks so much”, “Great insight and loads of thanks”, “Superb presentation Anneke ” and “Thank you. Really engaging session”.
View the presentation from the Utility of polygenic scores in healthcare seminar.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>Screening course bursary winners have described the positive impact that studying the master’s level health screening module has had on their respective roles.
The annual course, supported by expert academics and UK National Screening Committee (UK NSC) staff, covers the epidemiological principles, ethics and policy issues involved in health screening.
Two of the most recent graduates from the course are Jo Priestley, an Antenatal & Newborn Screening Midwife based in the North East of England, and Laura Macdermott, Programme Coordinator with Antenatal Screening Wales. Both Jo and Laura were successful in securing a bursary to support attendance on the course.
Both found the learning extremely useful for their roles and would encourage other screening professionals to take up the opportunity if they can.
Jo said:
I was a little apprehensive after being accepted on to the course. It’s a long time since I wrote academically and I’ve never studied at master’s level, but my worries were completely unfounded.
The course was efficiently delivered by a range of academic staff and supported by staff from the UK NSC, all experts in their own field, for whom no question was unreasonable. The shared knowledge and experience of all those on the course was astounding – there was so much to be learnt from fellow clinicians and health professionals, commissioners, public health and QA colleagues and charity workers.
It’s a very intense week with vast amounts of information to absorb and digest. But the topics are all aimed at developing an understanding of the ethos of a screening programme; when screening is appropriate and when it is not, why screening can be such an emotive subject and how much planning goes into introducing, delivering and monitoring a successful programme.
I am passionate about screening so for me it is important to understand how screening programmes are sanctioned, introduced and evaluated, in order that I can share that understanding locally. We can only deliver services of the highest quality if we have awareness and understanding of the foundations and fundamentals of all screening programmes.
I would encourage anyone involved in screening to attend a course like this. You will meet a wonderful range of people from all backgrounds and you will come away with valuable insights into, and appreciation of, the complexities of screening that you just wouldn’t get anywhere else.
Laura said:
I had worked as a radiographer and sonographer for 15 years before making the move from delivering the ultrasound aspects of antenatal screening to becoming Programme Coordinator with Antenatal Screening Wales in April 2022.
After being in post for 18 months I was fortunate enough to be successful in applying for a UK NSC course bursary. Any nerves I had about attending the course were quashed on my first day, I was relieved to be surrounded by a wonderful mix of people from varied backgrounds who brought with them different insights into screening, based on both professional and personal experiences.
Beforehand, I was most concerned about the statistical elements of the course. And while I did not leave as a proficient statistician, I found that the lectures were targeted appropriately to the group and I left feeling considerably more comfortable with the use of statistics in practice, and incredibly grateful for statisticians themselves. I particularly enjoyed the discussions around ethics. Coming from a background in antenatal screening this is always an incredibly emotive issue, and the discussions on the course further confirmed the importance of informed choice.
Overall, I really enjoyed the course and would highly recommend this learning to any professional involved in the delivery or coordination of screening. I plan to take what I have learnt into my professional role, and continue my development and understanding of screening, its applications and considerations by progressing to a Masters in the future.
The health screening module will run again in November 2024 and we will again hope to be able to offer a small number of bursaries. Watch this space for details.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>Horizon scanning principles underpin the UK National Screening Committee’s (UK NSC’s) evidence review processes and align with the recommendations of the chief medical officers for the UK NSC’s expanded remit.
The committee uses horizon scanning to identify early signs of important developments in research, international policy making and emerging technologies. This helps ensure its screening recommendations are based on the best evidence and that opportunities to improve existing screening programmes are identified early.
The NHS Bowel Cancer Screening Programme has evolved significantly since its rollout across the UK began back in 2006. There are many more potential developments that could transform bowel cancer screening in the years to come, so the UK NSC sought to explore these at a horizon scanning event in Edinburgh.
The event, chaired by the UK NSC Director of Screening, Professor Anne Mackie, featured patient organisations, leading academics, clinicians, public health professionals and screening policy experts.
Topics discussed included risk stratification in screening, novel screening tests and the potential pros and cons of AI (Artificial Intelligence) technologies and interventions to increase screening participation. The presentations can be viewed by clicking on the links in the text below.
Prof Mackie said:
Many thanks to our colleagues in Scotland for all their help in the organisation and hosting of this event.
Our excellent speakers provided much food for thought and stimulated discussion about how the UK NSC will need to consider innovations that could improve and transform bowel cancer screening in the years to come.
Professor David Weller, of the University of Edinburgh, set out a vision for the potential future introduction of risk stratification in the bowel cancer screening programme. This would involve using data to divide the eligible screening population into groups based on their risk status to improve health outcomes. This has been proposed as a means of helping to focus more screening effort on those individuals who are most at risk of the condition.
Demonstrating if such a risk-stratified programme would be safe, acceptable, and feasible will require large scale research. To this end, a large multicentre research study, funded by Cancer Research UK, is due to start across the UK in May 2024. Prof Weller explained that this study will set out to predict the long-term impacts of risk-stratified screening on the number and type of cancers detected, and on health inequalities.
David Weller- Risk stratification in bowel cancer screening prog
Sally Benton, director of the NHS Bowel Cancer Screening South of England Hub, gave delegates a presentation on the evaluation of new non-invasive screening tests for bowel cancer.
She described a rigorous approach, developed by the World Endoscopy Organisation, for evaluating any such emerging tests. This approach, set out in 12 principles, would help to make sure any approved new test would be flexible, improve test sensitivity, maintain acceptable specificity, and improve detection rates and participation.
A standardised approach to test validation in screening programmes is also a key workstream of the UK NSC secretariat.
Sally Benton -Edinburgh_evaluation of non-invasive screening tests_Jan2024_final
UK NSC member Prof Bethany Shinkins gave delegates an update on the development of multi-cancer early detection tests (MCEDs) and their potential future use in bowel cancer screening.
Prof Shinkins, Professor of Health Economics, Diagnosis and Screening at the University of Warwick, summarised the findings of completed prospective research studies into the effectiveness of MCEDS. She also updated delegates on the aims and scope of several large ongoing prospective studies, but stressed that current evidence does not support the use of MCEDs in population screening for bowel cancer.
Beth Shinkins MCEDS in bowel screening
Gerrard McMahon, Bowel Cancer UK’s Head of Policy & Influencing (Devolved Nations), set out the case for introducing a targeted screening programme for Lynch syndrome.
Lynch syndrome is a genetic condition which can increase the risk of developing bowel cancer by up to 80% as well as increasing the risk of other cancers. An estimated 175,000 to 200,000 people in the UK are unaware they have Lynch syndrome.
Bowel Cancer UK is proposing a targeted screening programme for the diagnosis, management and support of people affected by Lynch syndrome. This would involve screening people who test positive for bowel cancer and others who are diagnosed with Lynch syndrome, as well as offering cascade testing to their family members.
Such a targeted programme, which was proposed in the 2022 UK NSC annual call for topics, would aim to identify people with the condition and improve outcomes by preventing associated cancers, increasing early diagnosis and through appropriate surveillance.
Bowel Cancer UK - Lynch Syndrome and Cascade Screening
Sian Taylor-Phillips, Chair of the UK NSC Research Methodology Group and Kevin Dunbar, Deputy Director of Public Health in the Vaccination and Screening Directorate of NHS England, led an interactive session to get delegates’ views on which clinical and technical innovations should be prioritised in bowel cancer screening.
Delegates ranked their priorities on innovations ranging from risk stratification strategies to optimising AI in the bowel cancer screening programme and provided feedback on the many challenges that would be involved in introducing each of them.
Gavin Clark, Principal Information Analyst at Public Health Scotland, presented data indicating that the bowel cancer screening faecal immunochemical test (FIT) is a less sensitive test for women than for men.
This suggests that different referral thresholds could be set for the 2 sexes in order to increase the cancer detection rate in women. However, this could also lead to more colonoscopies, false positive results and complications.
Gavin Clark - Fit Thresholds based on sex
Katie Robb, Professor of Behavioural Science and Health at the University of Glasgow, presented the findings of the TEMPO randomised controlled trial into low cost behavioural interventions aimed at increasing screening uptake.
This trial found that adding a simple suggested 2-week deadline for the return of FIT kits to screening invitation letters could increase participation by 1.9%. If this was extrapolated across the UK, it could save an estimated 268 lives per year.
Katie Robb - Bowel horizon scanning_Jan2024_tempo
We will aim to run more horizon-scanning events such as this and last year’s multi-cancer early detection tests information-sharing day. In addition, the committee will meet with clinical, user and expert stakeholders and continue to scan online to ensure we stay up to speed with developments.
It is important for the UK NSC to keep the research and innovation sectors up to date with screening programme challenges so that developers of screening tests and technologies understand how they can help. We will use this blog to keep the academic world and industry informed.
Individuals and organisations are reminded they can submit proposals for screening programme modifications to the UK NSC via the annual call for topics process. Researchers can also submit requests for advice on screening study proposals to the UK NSC’s Research and Methodology Group.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there is no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
]]>The UK National Screening Committee (UK NSC) continues to press ahead with its work to review the case for newborn screening for spinal muscular atrophy (SMA).
We blogged last year about the committee’s plans to:
Last week, we held the inaugural meeting of the SMA ISE partnership board, chaired by Prof Anne Mackie, who leads the UK NSC secretariat. The board includes screening experts from the 4 UK governments and NHS England's Vaccination and Screening Directorate as well as organisations that have a shared interest in newborn screening for SMA, clinicians, academics, genomic experts and patient and public voice members.
This board will:
The SMA ISE will also have 3 expert sub-groups that report to the board – a clinical pathway group, a data and methodology group and a laboratory group.
At its inaugural meeting, the SMA ISE partnership discussed the UK NSC’s principles and guidance for stakeholders on declaring any actual, potential or perceived conflicts of interest. All board members will be required to complete the UK NSC declaration of interests form. Board members were also updated on the definition and role of ISEs in the UK NSC evidence review process.
Three external partners then gave updates on key workstreams.
The National Institute for Health and Care Research (NIHR) Health Technology Assessment (HTA) programme anticipates issuing a call for research evaluating specific health-related outcomes of the ISE. Potential research questions may include, but will not be limited to:
It is anticipated that the research call will open in the summer of 2024 . Further details will be published on the NIHR website in due course.
The interim medical director of Genomics England presented an update on the Generation Study, which will explore the benefits, challenges and practicalities of sequencing and analysing newborns’ genomes.
The study is due to start this spring and aims to test the DNA of more than 100,000 babies for more than 200 rare conditions caused by genetic changes in more than 500 different genes.
One of the 200-plus conditions is SMA, so the Generation Study will need to be closely aligned with the ISE to ensure diagnostic and clinical pathways are consistent. The 2 groups will work together through regular update meetings.
The lead for the Oxford/Thames Valley based SMA newborn screening study presented an overview and update of the study’s progress.
He reported that 14,000 babies had so far been screened, with one positive case detected and no false positive results reported. Members of this study team are represented on the SMA ISE partnership board and expert groups to enable joint working and sharing of information.
The meeting concluded by reviewing the terms of reference for the partnership board and its sub-groups and having a brief discussion around the frequency of future meetings and ongoing communication with wider stakeholders.
This was an excellent first meeting of the partnership board as the UK NSC and NHS England move forward on this important project. We will keep stakeholders updated on activities with the SMA ISE via this blog.
The UK NSC blog provides up to date news from the UK NSC. You can register to receive updates direct to your inbox, so there’s no need to keep checking for new articles. If you have any questions about this blog article, or about the work of the UK NSC, please email uknsc@dhsc.gov.uk.
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