A pioneering NHS national pilot programme has shown potential to improve the early detection of familial hypercholesterolaemia (FH), following the publication of an independent evaluation.
FH is a genetic condition that significantly increases the risk of early heart disease.
Health Innovation Networks across England, led by Health Innovation North East and North Cumbria, developed the pilot Child Parent Screening Service (CPSS) to help the NHS detect cardiovascular disease earlier by identifying children and families with FH.
Through the CPSS pilot, which ran between October 2021 and 2024, 67 GP practices across England introduced a new clinical pathway involving a simple heel prick blood test, offered during a child’s routine one-year immunisation appointment. If cholesterol levels were high, further genetic testing was carried out.
Where a diagnosis of FH was confirmed, cascade testing was offered to family members, allowing two or more generations to be assessed through a single NHS touchpoint.
Health Innovation West of England played a key role in the success of the CPSS pilot, findings from the evaluation report show:
- Top screening region: The West of England completed 606 screenings—33% of the national total, the highest of all Health Innovation Networks.
- Strong engagement: 39% of all GP staff survey responses came from the West, showing high involvement and commitment to feedback.
- Valuable insights: Local GP practices and Health Innovation West of England staff contributed key implementation learnings through interviews, highlighting successes and barriers.
- Leadership in action: We adapted local communications for use in the West of England to improve awareness and uptake, demonstrating proactive implementation leadership.
These efforts have helped shape the CPSS model for national rollout.
Dr Paul Dowie, Clinical Lead for CPSS and Consultant Chemical Pathologist, said:
“Being part of the CPSS in the West of England has been hugely rewarding and it was fantastic as a lipid specialist for our area to be part of this innovative piece of work. Our region screened more children than anywhere else – one-third of the national total – thanks to strong collaboration across GP practices, the Health Innovation Network, and secondary care.
“We showed that, with the right training and support, child-parent screening can be seamlessly integrated into routine immunisation visits. While there were some early tech and logistics hurdles which were successfully negotiated, staff and parents responded positively.
“Crucially, this work supports earlier detection of FH, which remains massively under detected. Every diagnosis counts – not just for the child as in this programme but their family too. This pilot has real potential to influence how we test and manage FH nationally.
“Although we led the delivery in our region, we owe much to the support from other Health Innovation Networks and the leadership of Health Innovation North East North Cumbria.”
Key national findings from the independent evaluation include:
- First of its kind service – The pilot introduced a new clinical pathway, making it the first time a clinical service of this kind for FH has been introduced in England.
- Early intervention improves outcomes – By identifying FH cases, the CPSS enables early interventions, such as lifestyle advice and cholesterol-lowering medication, significantly reducing the risk of heart attacks and strokes.
- Learning from implementation strategies – The most effective implementation happened when there was strong buy-in from GP practice staff, and clear communication across the practice team.
The programme was implemented by Health Innovation Networks across England, led by Health Innovation North East and North Cumbria, in partnership with GP practices, Genomic Laboratory Hubs, and supported by Unity Insights, who conducted the independent evaluation.
Conversations are continuing locally as partners are keen to continue working together to encourage the earlier detection of FH. Watch this space for confirmation of next steps!
Find out more about Health Innovation West of England’s work on the Cardiovascular Disease (CVD) National Programme.
Posted on June 12, 2025
