January 2024 BSTG meeting notes
Published 29 February 2024
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The Blood Spot Task Group (BSTG) held its seventh meeting on 8 January 2024.
1. Update on ongoing projects
1.1 Test accuracy project
Project title: Providing practical recommendations for test accuracy studies for very rare and ultra-rare conditions for consideration in newborn blood spot screening.
The UK NSC secretariat organised and ran a workshop in December that was also attended by colleagues from the Netherlands and Belgium.
Workshop attendees discussed the various types of test accuracy study designs and outlined the importance of focusing on the features of these designs, their pros and cons. Discussions also touched on other issues, including agreement of case definitions, continuous evaluation of test accuracy study designs and defining the most important test accuracy parameter depending on the circumstances and aims of the study.
Discussions from the workshop will now be synthesised and a manuscript prepared for submission to a peer-reviewed journal for publication.
1.2 Modelling project
Project title: Identifying challenges, opportunities and practical approaches when developing modelling for rare diseases.
The Sheffield Centre for Health and Related Research (SCHARR), which was awarded the contract for this project, has completed and published the protocol for a literature review.
A workshop was held on 20 November with an expert group made up of UK policy makers from the UK NSC, health economic academics from the UK, US and Spain and 3 patient and public voice representatives. The workshop focused on the challenges identified by the review that modellers face when developing models for rare diseases.
The ScHARR team will now update its literature searches and a second workshop will be held on 12 March which will focus on solutions to the challenges previously identified.
A manuscript synthesising the outputs of the literature review and the workshops’ discussions will be put together. It is hoped that a final version will be ready for submission to a journal for publication in the summer.
1.3 Outcomes and data project
Project title: Describing how disease registries, data linkages and improved data coding could help provide evidence on rare disease outcomes and other metrics.
BSTG members discussed various options for what work should be carried out to take this project forward.
They agreed that they would first want to commission a review of studies that explore outcomes from newborn screening, focusing on the mechanisms that have been used in those studies.
2. Use of stored blood spot cards in research
Dr Tom Barlow, from the Scottish Government’s Chief Scientist Office, gave a presentation on the potential of newborn blood spot cards in research and work in Scotland to explore the ethical, legal and practical issues around their possible use in research.
3. Future meetings
The next meeting of the BSTG will be held in April.