Case Study Child heel prick test identifies entire families at risk of heart disease 9 June 2025 Share Share on Linkedin Share on X Share via email Case Study Cardiovascular disease Health and care professionals Summary A simple heel prick test offered at a child’s routine one-year immunisation appointment can identify if their family members are at risk of inherited heart disease, an independent evaluation of a nationwide Health Innovation Network pilot scheme has shown. Health Innovation KSS supported three GP practices within our region during the pilot scheme, which is the first time a clinical service of this kind for FH has been introduced in England. The challenge Familial Hypercholesterolaemia (FH) is a genetic condition that affects 1 in 250 people, yet over 90% of cases remain undiagnosed in the UK. The genetic condition results in high atherogenic low-density lipoprotein (LDL) cholesterol levels in the blood, increasing the risk of myocardial infarction and stroke The approach FH is a genetically inherited condition, meaning that each affected person will have at least one affected parent. Testing children for FH, using a heel prick test, allows both parent and child to be identified and treated together. This is commonly known as a child-parent screening service, or CPSS. The child-parent screening pilot for FH was implemented between October 2021 to October 2024. The findings Two diagnoses of FH were made out of 1,820 child screenings (in line with previous research). By identifying FH cases, the screening service enables early interventions, such as lifestyle advice and cholesterol-lowering medication, significantly reducing the risk of heart attacks and strokes. The most effective implementation happened when there was strong buy-in from GP practice staff and clear communication across the practice team. “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” – Professor Julia Newton, Medical Director at Health Innovation NENC This pilot was only possible thanks to collaboration across GP practices, Genomic Laboratory Hubs, Health Innovation Networks, and evaluation partner Unity Insights. “It has been great to participate in the Child Parent Screening Service programme. The service provides the opportunity to increase detection and therefore enables earlier intervention, such as lipid-lowering therapy and lifestyle advice, for affected family members” – Ellie Mason, Programme Manager – CVD Prevention, Health Innovation KSS Scalability The evaluation has identified areas of improvement to successfully scale the service in the NHS. Create a campaign to raise awareness of FH Review the incentives provided Expand the CPSS gradually based on GP practices with existing cardiovascular disease (CVD) interventions or a high number of one-year-old patients Tailor training to each staff role Ensure accurate data collection Signpost all contacts and improve the level of support for GP practices Regularly measure patient and staff satisfaction levels Read the full evaluation.