Pioneering child-parent screening pilot identifies families at risk of inherited heart disease
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.
The Child Parent Screening Service (CPSS) ran between October 2021 and 2024 to identify children and families with FH. FH is a genetic condition that significantly increases the risk of early heart disease.
Through the pilot, 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 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 Networks across England, led by Health Innovation North East and North Cumbria (HI NENC), developed the pilot to support the NHS Long Term Plan’s ambition to detect cardiovascular disease earlier.
Key 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.
- Aligned with previous research – Results were consistent with findings from Wald et al (2016), highlighting the potential to help improve national FH detection rates (two diagnoses of FH were made out of 1,820 child screenings).
- 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.
Professor Julia Newton, Medical Director at HI NENC, said: “Familial Hypercholesterolaemia (FH) affects approximately 1 in 250 people, yet over 90% of cases are still undiagnosed in the UK.
“Without treatment, it can lead to dangerously high cholesterol levels from a young age, significantly increasing the risk of premature heart disease.
“However, early detection can often reduce this risk and help prevent life-threatening complications, such as a heart attack or stroke.”
Professor Newton continued: “The pilot programme has shown how we can utilise routine touchpoints in a child’s care to spot inherited conditions like FH.
“When a child tests positive for the gene, it means one of their parents will carry it too. This has offered a unique opportunity to screen across generations to identify affected family members, and in doing so, provide early intervention and improve cardiovascular outcomes for entire families.
“The outcomes from this pilot will play a key role in shaping how we could detect and manage the condition going forward.”
The success of the CPSS pilot was underpinned by a collaborative approach. HI NENC provided national leadership for the programme, supported by Health Innovation Networks across the country who led regional delivery.
The programme was implemented in partnership with GP practices, Genomic Laboratory Hubs, and supported by Unity Insights, who conducted the independent evaluation.
Download the full evaluation here