Familial Hypercholesterolemia
Familial Hypercholesterolaemia (FH) is an inherited condition that can cause extremely high cholesterol levels, even in people who have a healthy lifestyle, because it affects the way that cholesterol is broken down in the body.
The condition is one of the most common genetic diseases and affects approximately 1 in 250 individuals¹. Without detection and treatment, FH can lead to heart disease at a very young age.
Project Overview
The NEY GMS FH project team worked collaboratively with the NENC AHSN (now Health Innovation – NENC) to establish a feasibility and service delivery model for a Primary Care Network (PCN) Pharmacist-led service offering Familial Hypercholesterolaemia (FH) testing to patients within the primary care setting.
The objectives were:
- To develop a clinical pathway underpinned by appropriately governed PCN Pharmacist-led Primary Care Service offering FH genetic testing;
- To improve patient access to FH genetic testing and early lipid optimization.
The NEY GMS worked with 11 Primary Care Networks (PCNs) in the region to undertake systematic medical record searching and pharmacist-led diagnostic testing to identify patients with FH. Record searching aimed to identify those who fit the Dutch Lipid Clinic Criteria to Lipidology for consideration for genetic testing.
The PCNs received expert advice from FH Specialists and Lipidology services, and 12 pharmacists were trained on the condensed FH genetics course in collaboration with Northumbria University.
Achievements
We showed that Pharmacists can be trained to deliver FH gene testing within a Primary Care setting. The testing was delivered in the context of holistic lipid management of patients who are found to have high levels of cholesterol within primary care, and the pharmacists were supported by expert advice from FH Specialist Nurses if they needed it.
Patients were satisfied with the service, pleased to have testing within their GP practice and Pharmacists were comfortable with delivering FH gene testing. This project contributes to the wider upskilling of Pharmacists in the genomics era.
Further Information & Resources
The North East and Yorkshire GMS and North Thames GMS co-led parallel projects to develop the supporting education and workforce development tools, including Clinical Pathway Initative (CPI) and resource repository (FH CPI), and embedding the processes for more Pharmacists to be trained.
The CPI for Familial Hypercholesterolaemia was the first CPI to be published and its evaluation has contributed to the development of CPIs for other genetic conditions. This project continues to be used as a foundation for up-scaling of education and training resources for healthcare professionals equipping themselves to deliver FH gene testing.
The project was presented as a leading example of embedding genomic testing into the healthcare system at the annual NHS Genomic Healthcare Summits in 2022 and 2023.
The project also underpinned the subsequent national FH Education and Training Project, culminating in an up-scaling of the training workshop into MOOC (Massive on-line open course) format, an RCPCH module for Paediatricians and development of a roadmap for embedding FH gene testing into the pharmacy infrastructure.
1. https://rarediseases.org/rare-diseases/familial-hypercholesterolemia/
Contact us to learn more.
Our project team are:
Dr. Jude Hayward, NEY GMS Primary Care Lead and GP
Dr. Jackie Cook, NEY GMS Clinical Director (Rare Disease)