I have had the pleasure of collaborating with NDRS to develop a novel linked dataset to investigate newborn screening outcomes. They were responsive and flexible at each step from data application to provision and made a challenging task much more manageable. I can confidently say that the data linkage would not have been possible without them and I look forward to working with NDRS again.
Introduction
Screening aims to identify people who appear healthy but may be at increased risk of a particular condition, so they can access earlier treatment or make informed decisions about their health. In the UK, screening programmes are recommended by the UK National Screening Committee (UK NSC) and delivered by the NHS to specific population groups most likely to benefit.
All screening programmes must balance potential benefits against risks such as false positive and false negative results, overdiagnosis and overtreatment.
NDRS plays a key role in supporting NHS screening programmes through the collection, curation and analysis of high-quality, population-level data. By linking data across screening pathways, diagnosis and outcomes, NDRS helps evaluate programme performance, assess longer-term impact and support continuous quality improvement.
In addition to supporting established screening programmes, NDRS also produces independent evidence to inform the work of the UK National Screening Committee (UK NSC), including through in service evaluations (ISEs) that provide evidence to assess whether new screening programmes should be introduced, modified or not recommended. This evidence-based approach helps ensure that screening policy decisions are robust, proportionate and grounded in real-world population data.
How NDRS supports in service evaluations for screening
In-Service Evaluations’ (ISEs) are used to test proposed new screening programmes or changes to existing ones. During an ISE, the programme is delivered by NHS providers while data is collected to answer questions on operational impact, effectiveness and feasibility.
Evaluations are designed with academic support to ensure the study is robust and the findings can inform the UK National Screening Committee in making evidence-based recommendations to ministers and guiding wider policy decisions.
The UK NSC may request an ISE when a proposed programme has potential but requires real-world evidence; for example, to understand practical delivery challenges or to collect population-level data before full implementation. ISEs ensure that new screening technologies are introduced safely, effectively, and with a clear evidence base.
National screening programmes
NDRS has a long standing, collaborative relationship with the national screening programmes, including the Fetal Anomaly Screening Programme (NHS FASP), the Newborn Blood Spot Screening Programme (NHS NBS) and the Sickle Cell and Thalassaemia Screening programme (NHS SCT).
Our screening work programme covers a variety of workstreams embedded across the whole of congenital conditions, rare disease and genomics. This includes:
- enhanced data collection and curation to fulfil both current requirements and the screening development pipeline
- reporting performance and detection rates against national screening programme standards to monitor the effectiveness of screening pathways
- supporting high-profile in-service evaluations to assess the effectiveness of screening interventions
1. NHS FASP
The NHS Fetal Anomaly Screening Programme (FASP) offers screening to all eligible pregnant individuals in England to assess the chance of the baby being born with Down’s syndrome, Edwards’ syndrome and Patau’s syndrome and a number of structural conditions of the developing baby. The tests are offered by healthcare professionals, including midwives, as part of routine antenatal care.
2. NHS NBS
The NHS Newborn Blood Spot Screening Programme (NHS NBS) offers screening to all babies in England to help identify rare but treatable conditions early, helping to improve long‑term health outcomes and prevent severe disability.
As part of this, the NHS has evaluated screening for Severe Combined Immunodeficiency (SCID), a life‑threatening inherited disorder, with a national in‑service evaluation launched in 2021. Supported by NDRS through data linkage and analysis, the evaluation assessed how well SCID screening works in England to inform future recommendations on its inclusion in the national programme.
3. NIPT
NHS Non-invasive prenatal testing (NIPT) is a blood test that looks at cell‑free fetal DNA to screen for Down’s syndrome, Edward's syndrome and Patau’s syndrome.. It offers increased choice in pregnancy and helps people with higher chance results to make informed decisions about further testing and plan their antenatal care.
4. Sickle Cell and Thalassaemia
The NHS Sickle Cell and Thalassaemia (SCT) screening programme offers tests to identify carriers and detect these inherited red blood cell conditions early in pregnancy and newborns, helping to support timely care and informed decisions while monitoring and improving the quality of the screening pathway.
UK rare disease framework
We are directly involved in supporting England's Rare Disease Action Plan, which lists the priorities and underlying strategic themes that detail how the UK will address the challenges faced by those living with rare diseases. One of the high-level priorities outlines the importance of getting a rapid and accurate diagnosis to improve timely access to treatment and care.
Screening is recognised as having a central function in early diagnosis by identifying an individual's chance of having or developing the condition being screened for. We collaborate with a number of key stakeholders in supporting this high-profile work.
Last edited: 27 February 2026 2:56 pm
