Guidance

UK NSC blood spot task group terms of reference

Updated 6 June 2025

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) uses modelling to help estimate 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.

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 UK NSC recommends screening for 10 conditions and is to consult on whether to screen for an 11th (severe combined immunodeficiency (SCID)). Plans are ongoing for an in-service evaluation (ISE) of screening for a 12th condition (spinal muscular atrophy (SMA)).

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]}. There are also rare disease action plans for Scotland, Wales and Northern Ireland.

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.

Purpose and remit

The BSTG is a working group with representation from all 4 UK nations. It 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 open call process.

Projects and outputs

The BSTG focuses on projects that generate practical outputs. A list of past and ongoing projects can be viewed in the Appendix at the bottom of this page. The UK NSC Secretariat creates a work plan and timeline for the BSTG’s project work and procures any necessary work required. Once a BSTG output has been formally signed off, it becomes part of the UK NSC’s advice on research and methodological issues.

Proposing new projects

BSTG members can suggest 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 are added to the BSTG work plan.

Accountability and reporting

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

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

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.

BSTG members are expected to adhere to the UK NSC code of practice and follow the Seven Principles of Public Life set out by the Committee on Standards in Public Life. Conflicts of interest are managed as per the UK NSC code of practice.

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
• NHS newborn screening programmes
• health economics, ethics, quality assurance, social science research and genetics
• representatives of the UK’s 4 national rare disease registration services

Participant observers include representatives of NHS England and the National Institute for Health and Care Research (NIHR), as well as representatives of the 4 UK government departments and the Republic of Ireland. Participant observers 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.

Declaration of interests

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

Termination of membership

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 Secretariat at the earliest opportunity.

Frequency and management of meetings

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

Meetings are 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 meets 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.

Meetings are closed to allow for free and open discussions. BSTG discussions feed into policy development and are therefore confidential and should not be shared outside the meetings. However, a summary note from each meeting is published on GOV.UK and shared via the DHSC UK rare diseases forum.

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, are provided at FMCH meetings. These are held 3 times a year (usually in January, May and September). The UK NSC is updated via the FMCH Chair’s report to the UK NSC meetings. These are also held 3 times a year (usually February/March, June/July and October/November).

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.

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.

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.

Appendix: BSTG projects

Past and ongoing BSTG projects include:

• consideration of study design options for researchers involved in test accuracy studies
• exploring methods and mechanisms for measuring and monitoring outcomes from newborn screening
• exploring important methodological challenges facing modellers when developing rare disease models
• a comparison of EURORDIS key principles for newborn screening with UK decision making and implementation practices
• review of the acceptability of blood spot screening and genome sequencing in newborn screening
• exploring the possibility of a rolling multi-disease ISE within the UK NBS screening programme

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). ↩