The UK National Screening Committee, the Newborn Genomes Programme, and the Ethical Conundrum for UK Newborn Screening

Rankin, Sara and Marskell, Lucy and Hamad, Lina and Machin, Laura (2025) The UK National Screening Committee, the Newborn Genomes Programme, and the Ethical Conundrum for UK Newborn Screening. Journal of Community Genetics. (In Press)

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Abstract

Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Screening (NBS) programme. Examination of the meeting minutes of the UKNSC between 2015 and 2022 revealed that no new diseases were recommended for NBS during this period. If there was no ‘effective treatment’ for the disease it was rejected for NBS. In 2022, the Newborn Genomes Programme (NGP) was announced; a research study aiming to screen for over 223 rare genetic diseases using whole genome sequencing technology in newborns. While this could lead to a seismic expansion of NBS in the UK, many of the diseases included in the programme are currently considered ‘actionable’ rather than ‘treatable’ conditions. This poses an ethical conundrum for the UKNSC, which is involved in both NBS and NGP, given that it has thus far made recommendations against the expansion of the NBS programme using available biochemical assays, contrary to what has been implemented in other countries in the Global North. In this paper, we aim to critically examine the processes and circumstances that have held back the expansion of the NBS programme in the UK, as compared with other countries, focusing on the period 2015 – 2022, when no new diseases were added to the UK NBS programme, and contrast them with the drivers that have led to the support and funding for the NGP during this same time.