Families in Carlton, Nottinghamshire, can now opt to have their newborn babies screened for more than 200 rare genetic conditions at local hospitals. This offer is available to parents giving birth at Queen’s Medical Centre and Nottingham City Hospital as part of the national Generation Study, a research programme led by Genomics England in partnership with Nottingham University Hospitals (NUH) NHS Trust.
The initiative is known as the Generation Study and is being run by Genomics England in partnership with NHS organisations including NUH. It uses whole genome sequencing to look for changes linked to more than 200 rare conditions, many of which may not show symptoms until months or years after birth (often in the first few years of life).
This screening is a significant increase on the routine NHS newborn blood spot (“heel prick”) screening, which currently looks for nine conditions. By detecting treatable rare conditions earlier, clinicians can offer interventions ranging from dietary changes or vitamin replacement to specialist therapies; in some cases earlier diagnosis may enable access to more effective treatments.
Participation is voluntary and free for parents using NUH maternity services. Parents are typically invited during pregnancy and, with consent, a sample is usually taken from the umbilical cord shortly after birth; cord blood was chosen as the primary sample following the Baby and Mum Samples Study (BaMSS). This research offer does not replace the routine NHS newborn blood spot test.
Nottingham University Hospitals confirmed the programme rolled out at these hospitals on 26 January 2026. The Generation Study aims to sequence up to 100,000 newborns across participating NHS sites to evaluate whether genome sequencing should be adopted more widely in newborn screening in the NHS.
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