Members of the Blood Spot Task Group (BSTG) met on 27 January.

1. Update on projects

The National Institute for Health and Care Research (NIHR) West Midlands evidence synthesis group (ESG) has identified more than 600 potentially eligible studies to include in a scoping review on methods and mechanisms to measure and monitor outcomes of newborn blood spot screening.

After completing the data extraction phase, the West Midlands ESG will work on an initial draft of the scoping report. This will be reviewed by the UK National Screening Committee (UK NSC) secretariat before coming back to the BSTG.

The scoping review is the first phase of a 2-phase project focusing on how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes. Relevant methods and mechanisms identified in the scoping review will be evaluated in the second phase of the project.

2. Next steps for BSTG

The idea of a rolling in-service evaluation (ISE) into NBS screening for multiple conditions, which was raised at the October 2024 meeting, was discussed in more detail.

The aim of such a project would be to generate relevant high-quality evidence more quickly to help the UK NSC make robust screening recommendations on rare diseases.

BSTG members talked through the many issues that will need to be thought through very carefully before taking this idea further.

These issues include:

• how to choose conditions to incorporate into a multi-condition ISE
• ensuring adherence to screening principles and UK NSC decision-making processes
• ethical questions
• coordination with other ongoing research projects
• how to obtain informed consent
• enabling the use of any appropriate innovative technologies and tests in a multi-condition ISE
• laboratory capacity

The proposal will continue to be discussed and explored further at future BSTG meetings.