Question to the Department of Health and Social Care:

To ask His Majesty's Government, further to the Written Answer by Baroness Merron on 11 March (HL15192), what plans they have to expand the NHS newborn blood spot screening programme alongside implementation of universal newborn genomic testing.

The UK National Screening Committee (UK NSC), which advises Ministers on all screening matters, is working with partners to develop rolling evaluation to safely build the evidence needed to add more rare diseases to the NHS newborn blood spot screening programme. The evaluation would consider conditions that can be tested using mass spectrometry, an analytical technique used for detecting abnormal molecules in the blood which might indicate important disorders, as well as those requiring genomic tests. The rolling evaluation would help the UK NSC make timely evidence-based recommendations on multiple rare conditions.

The Generation Study which launched in 2024 is evaluating the effectiveness of using whole genome sequencing to test 100,000 newborns for genetic mutations associated with more than 200 rare genetic conditions. The study is due to be completed by summer 2027.

The evaluation part of the study will then be completed and shared with the UK NSC who will assess the findings to determine whether any newborn genomic screening can be recommended. Where more research is required, the rolling evaluation will assist in securing evidence.