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Hereditary Diseases: Babies

Answer

NHS England is currently planning a large-scale in-service evaluation (ISE) of screening for spinal muscular atrophy (SMA), which is a genetic condition, in newborn screening services to start in January 2027. Over 400,000 babies would be offered screening as part of this ISE. The ISE will help inform a future UK NSC recommendation on whether screening for SMA should be added to the NHS Newborn Blood Spot Screening Programme (NBSP).

An ISE for severe combined immunodeficiency (SCID), another genetic condition, was undertaken in some newborn screening services in England from 2021 and concluded in 2024. During this period, 900,000 babies were screened, and 10 babies were found to have SCID. NHS England is planning to continue the SCID ISE alongside the ISE for SMA.

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 sequencing of 100,000 newborns through the Generation Study will be completed by summer 2027.

The evaluation part of the study will then be completed and shared with the UK National Screening Committee (UK NSC) which advises ministers on all screening matters. The UK NSC will assess the findings to determine whether any newborn genomic screening can be recommended or whether more research is required.

Secondary information

Type

Written question

Reference

118632

Session

2024-26

Subjects

Babies Hereditary diseases Screening

Link

View this Written question on www.parliament.uk