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February 2026 BSTG meeting notes

Published 3 February 2026

The UK NSC Blood Spot Task Group (BSTG) met on 2 February 2026.

The meeting was chaired by David Elliman and included representatives from the UK NSC secretariat, NHS England, Public Health Scotland, Genomics England, the UK’s rare disease registration services and the National Institute for Health and Care Research (NIHR).

Items discussed included progress on the EquipoISE project, research into data linkage methodologies for rare diseases, and the Generation New Era longitudinal study.

EquipoISE project

James Davison, Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital, explained the EquipoISE project.

This multi-condition in-service evaluation (ISE) would aim to address evidence gaps to enable the UK NSC to make recommendations about adding new conditions to the newborn blood spot (NBS) screening programme.

The group noted that new therapies, particularly genetic-based treatments, are helping to drive calls for an expansion of NBS screening, and that all screening laboratories now use the same testing kit that can screen for around 100 inherited metabolic disorders.

EquipoISE would evaluate multiple conditions simultaneously within the current screening programme rather than one at a time and a dried blood spot (DBS) biobank is being considered for the retrospective analysis of screening results. Work is also under way with the National Disease Registration Service to determine how clinical outcome data could be linked to a multi-condition screening ISE.

BSTG members emphasised the importance of involving patients, parents and the wider public in the project, including the need to understand public attitudes towards uncertainty in the evidence base.

The group confirmed that EquipoISE would ultimately be a 4 nations project and that agreed data definitions should be established so comparable information could be collected across England, Wales, Scotland and Northern Ireland, even if implementation timelines differ.

A specification document for scoping work on models suitable for in-service evaluation of multiple conditions is being developed to support the EquipoISE work.

Update on BSTG projects

Silvia Lombardo provided an update on BSTG projects.

The scoping review, conducted by the NIHR West Midlands evidence synthesis group (ESG), on methods and mechanisms to measure outcomes of NBS screening, has been accepted for publication by the NIHR Journal Library. Phase two of the project, evaluating the methods and mechanisms identified in the scoping review, is under development.

The Journal of Clinical Epidemiology is continuing to review the manuscript on the project that looked at practical recommendations for a test accuracy study. Recommendations and concepts from the manuscript have informed the scope of a linked project on advancing test accuracy methodology in a newborn context that is being undertaken by the Warwick-Birmingham ESG.

A project on challenges faced by modellers when developing decision analytic models in newborn screening has concluded and the manuscript has been published in the International Journal of Neonatal Screening.

Data linkage for rare diseases

Pia Hardelid and Joachim Tan from the UCL Great Ormond Street Institute of Child Health presented research on a simulation study evaluating sampling approaches for rare disease studies using parameters drawn from linked administrative data.

The work, motivated by a proposed linkage study on children with congenital hypothyroidism, uses simulation methods to determine how many comparator individuals are needed per case to produce reliable estimates in rare disease research.

This type of methodological work is important for providing evidence to data governance committees to help them determine when whole population data is necessary and when sampled comparator approaches would be suitable.

Generation New Era Study

Alissa Goodman, from the Centre for Longitudinal Studies, UCL and Co-Director of Generation New Era, gave a presentation on the Generation New Era longitudinal birth cohort study.

The study is recruiting a statistically representative sample of births during 2026.

Alissa discussed the potential for the study to make use of residual DBS and the potential DBS biobank. BSTG members suggested learning from Denmark’s approach of converting samples to data rather than sharing physical samples and asked questions about consent, governance arrangements, and the process for accessing samples.

The Generation New Era team was advised to contact the NHS England Research and Innovation Development Advisory Committee (RIDAC) for more guidance.