September 2023 BSTG meeting notes
Published 3 October 2023
© Crown copyright 2023
This publication is licensed under the terms of the Open Government Licence v3.0 except where otherwise stated. To view this licence, visit nationalarchives.gov.uk/doc/open-government-licence/version/3 or write to the Information Policy Team, The National Archives, Kew, London TW9 4DU, or email: psi@nationalarchives.gov.uk.
Where we have identified any third party copyright information you will need to obtain permission from the copyright holders concerned.
This publication is available at https://www.gov.uk/government/publications/uk-nsc-blood-spot-task-group-september-2023-meeting-summary/september-2023-bstg-meeting-notes
The Blood Spot Task Group (BSTG) held its sixth meeting on 4 September 2023.
1. Presentations on big data, and running disease registries
The group received 4 presentations on the:
- Education and Child Health Insights from Linked Data (ECHILD) database
- UK CF Registry (cystic fibrosis)
- SMA Reach UK (spinal muscular atrophy registry)
- Unified European Registry for Inherited Metabolic Disorders (U-IMD)
The 4 guest speakers provided descriptions of the range and volume of data collected, the basis on which individuals are included, and examples of how the data is used. As at the previous BSTG meeting with presentations from the UK’s 4 national rare disease registration services, the speakers expressed the desire to expand data collection, including collaboration and linkages with other data resources such as educational outcomes. The group also discussed the importance of robust case definition to ensure high quality international comparisons and the fact that databases may be required to adapt questions and analysis in some instances to allow for confidential reporting of deanonymised data of very rare diseases with small numbers.
2. Update on ongoing projects
2.1 Comparison between EURORDIS key principles for newborn screening and UK decision making and implementation practices
The group noted that this manuscript has now been published in The Lancet Regional Health Europe.
2.2 Identifying challenges, opportunities and practical approaches when developing modelling for rare diseases
Having been awarded the contract for this project in July 2023, the Sheffield Centre for Health and Related Research (SCHARR) is developing the protocol for a literature review. Two workshops will also be held, with the first one taking place by the end of 2023. These will involve experts from both within and outside the UK NSC, including public and patient voice representatives (PPVs). A recruitment call for PPVs went out at the beginning of September, with a deadline of 25 September. Expressions of interest have already been received.
2.3 Providing practical recommendations for diagnostic test accuracy studies for very rare and ultra-rare conditions for consideration in newborn blood spot screening
This work is progressing, and a workshop with international experts, members of the Health Council of the Netherlands and the UK NSC is in development for the end of 2023.
3. Future meetings
The UK NSC evidence team will produce some initial options for possible evidence products to develop relating to registries/outcomes for the next meeting on Monday. This has been rescheduled for Monday 8 January 2024 to avoid a clash with a virtual meeting on spinal muscular atrophy (SMA) being held by the International Society for Neonatal Screening (ISNS) on 12 and 13 December 2023.