Guidance

UK NSC blood spot task group terms of reference

Published 23 January 2023

1. Background

Making screening recommendations about rare diseases is difficult. The small numbers involved mean it is often not possible to generate and evaluate evidence using the usual research methods such as randomised controlled trials (RCTs). As a result, there are significant limitations in the rare diseases evidence base.

The UK National Screening Committee (UK NSC) has begun to use modelling as an approach to estimating the effects of newborn screening for rare diseases to inform its recommendations. This method combines research and other documentary evidence with expert opinion. See the UK NSC guidance on disease, clinical effectiveness and cost effectiveness modelling.

Modelling and other UK NSC approaches in the area of newborn screening have led to work to:

• consider study design options for researchers involved in test accuracy studies
• identify important elements of rare disease registries for use in evaluations of screening both before and after implementation
• explain important methodological challenges facing modellers when developing rare disease models
• compare EURORDIS key principles for newborn screening with UK decision making and implementation practices

The 2019 Genetic Alliance UK report, ‘Fixing the Present Building for the Future’ ^{[footnote 1]}, expressed concern that the UK was screening for fewer conditions in its newborn blood spot (NBS) screening programmes compared to some other countries. The NBS programmes in the UK screen for 9 conditions and England is conducting an in-service evaluation on a tenth (severe combined immunodeficiency (SCID)). The number of conditions screened for across Europe varies from 1 to 31 (2020 data) ^{[footnote 2]}.

However, it is important to understand the significant and extensive differences in country level programmes and decision-making principles, processes and practices before attempting to make international comparisons.

‘Fixing the Present Building for the Future’ suggested the UK should consider alternative approaches for evaluating screening for rare diseases.

The UK NSC issued a formal response to that report which highlighted the difficulties of collecting good quality evidence on screening for rare diseases and committed to developing and promoting mechanisms to address these. The blood spot task group (BSTG) is central to taking this work forward.

The work of the BSTG should be viewed in the context of other strategic plans. The Department of Health and Social Care (DHSC) in England and its UK counterparts have contributed to a UK Rare Diseases Framework. This in turn fed into an England Rare Diseases Action Plan outlining national priorities for improving the lives of those with rare conditions^{[footnote 3]}. The devolved governments have developed, or are in the process of developing, their own action plans. In addition, the UK NSC Secretariat has developed a close working relationship with the whole genome sequencing (WGS) work of Genomics England, which has direct relevance to the work of this group.

2. Purpose and remit

The BSTG is a working group with representation from all 4 UK nations. It is a managed forum that aims to identify practical and innovative approaches to evidence development, facilitation of research and evaluation of evidence in NBS screening. This will support the UK NSC in making recommendations about new or modified screening programmes within the challenges of limited evidence bases. The work of the BSTG aligns with the UK NSC’s terms of reference to ‘facilitate research that is required to provide evidence for new programmes or modifications to existing programmes’ and to ensure ‘screening recommendations are embedded in a robust ethical framework and that they reduce inequalities’.

The group has not been established to propose new screening programmes. Proposals for new programmes should be made via the annual call process.

3. Projects and outputs

The BSTG focuses on time-limited projects that generate practical outputs. It will exist at least until it completes those outputs. Progress will be reviewed no later than 18 months after the initial meeting.

The following projects, which are already under way or soon to be initiated by the UK NSC, provide a starting point for the group in supporting the work of the committee:

• comparison between EURORDIS key principles for newborn screening and UK decision making and implementation practices
• providing practical recommendations for diagnostic accuracy studies for very rare and ultra-rare conditions for consideration in NBS screening
• identifying challenges, opportunities and practical approaches when developing modelling for rare diseases
• describing how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes and other metrics
• considering how patient and public experience evidence can be productively incorporated into the UK NSC process for evaluating topics (assessing evidence from a broad range of public experiences, not just the parents of children with rare conditions)

The UK NSC Secretariat will create a work plan and timeline for the BSTG’s time-limited project work.

The UK NSC Secretariat will follow procurement arrangements for commissioning and developing any work required.

Once a BSTG output has been formally signed off, it will become part of the UK NSC’s advice on research and methodological issues.

4. Proposing new projects

BSTG members can suggest additional projects which meet the BSTG’s purpose and remit.

When a member suggests a project, they should provide the Secretariat with information on:

• the output and how it fits the BSTG’s remit
• what form the project will take
• its contribution to improving the blood spot evidence base
• likely cost

The UK NSC’s Fetal, Maternal and Child Health (FMCH) group will consider each proposal. The FMCH can also suggest projects that meet the BSTG’s remit.

If approved, additional projects will be added to the BSTG work plan.

5. Accountability and reporting

The BSTG will report to the FMCH group. The chair of the BSTG, the UK NSC Evidence Team and Secretariat can escalate concerns to the FMCH.

The BSTG will interact with the UK NSC research and methodology group (RMG) on outputs that focus on methodology, research and providing guidance on developing evidence.

6. Membership

Members are appointed as individuals based on their expertise and experience, not as representatives of a particular profession, organisation, employer or interest group. Members have a duty to act in the public interest. Where members declare an organisation’s views rather than a personal view, they should make that clear at the time of declaring that view.

Members’ appointment will last until the objectives are completed unless terminated before then.

Membership is broad and includes at least one individual per area of expertise. Membership includes patient and public voice (PPV) representation, expertise in paediatric medicine, inherited metabolic disorders, test assessment methodology, data linkage and information governance, newborn screening laboratories and newborn screening programmes, health economics, ethics, quality assurance, social science research and genetics. Representatives of the 4 UK government departments and the Republic of Ireland are invited to attend meetings, receive papers and meeting notes, but their attendance is optional.

In addition to core group members, topic experts may be invited, and sub-groups formed, to contribute to discussions on specific issues and documents, if required.

Members are appointed to the BSTG for their personal expertise, so continuity is needed. Requests to send deputies should only be made in exceptional circumstances.

7. Declaration of interests

Members should declare conflicts of interests annually. Significant conflicts should be made known, to the chair, before meetings.

8. Termination of membership

Members’ appointment will terminate once the time-limited BSTG comes to an end. If a member wishes to resign, they should, if possible, give 3 months’ notice in writing to the UK NSC Secretariat and the Chair. If a member is unable to fulfil their commitments for any reason, they should inform the UK NSC Evidence Team and Secretariat at the earliest opportunity.

9. Frequency and management of meetings

Members are expected to attend all meetings. Attendance will be reviewed annually by the chair.

Meetings will be held virtually unless members agree that a face-to-face meeting should be organised. The option to join virtually will be made available to members unable to attend a face-to-face meeting.

The group will meet at least 3 times per year, subject to review by members. The agenda and other papers will be distributed at least 7 days before each meeting. Draft minutes will be made available for members to comment on between meetings.

Meetings will be closed to allow for free and open discussions. BSTG discussions feed into policy development, are therefore confidential and should not be shared outside the meetings. However, a summary note from each meeting will be prepared for sharing more widely for input and discussion by interested stakeholders. Unless agreed with the chair and the UK NSC Secretariat, papers and other documents are confidential internal working documents that should not be shared outside the group.

Updates on the BSTG work, as well as its outputs, will be provided at the FMCH meetings. These are held 3 times a year (September, January, May). The UK NSC will be updated via the FMCH Chair’s report to the UK NSC meetings. These are also held 3 times a year (usually June/July, October/November, February/March). Updates of work will also be shared on the DHSC UK rare diseases forum and the dedicated BSTG page on GOV.UK.

The UK NSC Secretariat provides technical and administrative support to the BSTG. Some work outside regular meetings may be required to take some outputs forward. This may take different forms, for example email comments on documents or attendance at virtual meetings.

10. Decision making

The BSTG aims to make decisions by consensus. If that is not possible then decisions are made by a majority vote.

Formal quorate arrangements are not required. However, to ensure transparency, if fewer than half of the members are present at a meeting then its provisional decisions will be submitted to all members of the group before agreeing and actioning.

11. Contribution and authorship

For outputs resulting in a manuscript to be submitted to a peer-reviewed journal, any member of the BSTG who fulfils the International Committee of Medical Journal Editors (ICMJE) criteria^{[footnote 4]} will be listed as an author. Anyone who comments on a manuscript but does not fulfil the ICMJE criteria (for example, providing verbal comments in a meeting) will be considered a reviewer and acknowledged accordingly.

12. BSTG members

12.1 Chair

David Elliman, Clinical lead for National Newborn and Infant Physical Examination (NIPE) and NBS Screening Programmes, Clinical Advisor to UK NSC, Consultant Great Ormond Street Hospital

12.2 Members

Anneke Lucassen, Professor of genomic medicine and consultant in clinical genetics at the University of Oxford and UK NSC member

Anupam Chakrapani, Consultant in Metabolic Medicine, Great Ormond Street Hospital, and Chair of Inherited Metabolic Disorders Newborn Screening Advisory Board

Catherine Joynson, head of engagement at UK Biobank

Christine Cavanagh, Midwife and former national manager of NHS Newborn Blood Spot Screening Programme

Felicity Boardman, Professor of Social Science in Medicine, University of Warwick and member of FMCH expert group

Gail Walshe, Director of Participation and Regional Development, Contact

Graham Shortland, Consultant paediatrician and vice-chair of UK NSC

Helen Lewis-Parmar, Senior Clinical Lead for Antenatal and Newborn Screening, NHS England

Jane Fisher, Director, Antenatal Results and Choices (ARC), patient and public voice (PPV) member of FMCH expert group

Jim Bonham, Laboratory Advisor to the NBS Screening Programme

Mariska Leeflang, Associate Professor, Epidemiology and Data Science, University of Amsterdam

Nick Meade, Director of Policy, Genetic Alliance UK

Oliver Rivero-Arias, Associate Professor and Senior Health Economist, University of Oxford, and member of FMCH expert group

Rachel Knowles, Chair of the Antenatal and Newborn (ANNB) Research, Innovation and Development Advisory Committee (RIDAC), Principal Clinical Research Fellow at UCL and Clinical Advisor to the NBS screening programme at NHS England

Richard Scott, Chief Medical Officer, Genomics England, Consultant in Clinical Genetics at Great Ormond Street Hospital

Robin Lachmann, Consultant in Inherited Metabolic Disease, National Hospital for Neurology and Neurosurgery, London, National Specialty Advisor for Metabolic Disorders, and member of FMCH expert group

Sharon Hillier, Director, Screening Division, Public Health Wales, UK NSC member and chair of the FMCH expert group

Sian Taylor-Phillips, Professor of Population Health, Warwick Medical School, University of Warwick, UK NSC member and chair of UK NSC research and methodology group (RMG)

Stuart Moat, Consultant Clinical Biochemist, Director of the Wales Newborn Screening Laboratory and Clinical Lead for the Metabolic Biochemistry Laboratory, University Hospital of Wales

Susan Spillane, Deputy Director, Health Technology Assessment, Health Information and Quality Authority Ireland

12.3 Participant observers

Carol Beattie, Northern Ireland Senior Medical Officer

Ellen Crushell, Republic of Ireland consultant paediatrician

Heather Payne, Wales, consultant paediatrician, Senior Medical Officer for Maternal and Child Health, Welsh Government

Helen Tutt, Policy Lead for Screening, Welsh Government

Jack Price, Screening Policy Officer, DHSC

Tasmin Sommerfield, Consultant in Public Health Medicine for National Screening Programmes, National Clinical Advisor for Screening, NHS National Services Scotland

1. Genetic Alliance UK. Fixing the Present Building for the Future. Newborn screening for rare conditions. July 2019. (Accessed 27 October 2021) ↩

2. Loeber JG, et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int J Neonatal Screen. 2021 Mar 5;7(1):15 ↩

3. Department of Health and Social Care (DHSC). 2022. Policy paper: England Rare Diseases Action Plan 2022 (Accessed 27 June 2022) ↩

4. ICMJE. Defining the Role of Authors and Contributors (Accessed 02 November 2022). ↩