Using systematic searching of medical records to identify patients at risk of Familial hypercholesterolemia (FH) in Primary Care

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.

What are we doing?

Primary care pharmacists are already playing an increasing role in lipid optimisation and reduction of Cardiovascular risk.  The NHS North East and Yorkshire (NEY) Genomic Medicine Service Alliance (GMSA) is building on this work, and that of the Academic Health Sciences Network, through the establishment of a feasibility and service delivery model for a PCN-pharmacist led service offering Familial Hypercholesterolaemia testing to patients within the primary care setting.

The objectives are to provide:

  • An appropriately governed and commissioned PCN Pharmacist-led Primary Care service offering FH genetic testing

  • Improved access of patients to FH genetic testing

To do this, we are undertaking a feasibility project working with 11 Primary Care Networks (PCN) in the region, to undertake systematic medical record searching and 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 receive expert advice from FH Specialists and Lipidology services, and 12 pharmacists have been trained on the condensed FH genetics course in collaboration with Northumbria University

The project is part of the Academic Health Science Centre (AHSN) North East and North Cumbria’s Cardiovascular Disease Prevention programme.

How will this project make a difference?

The aim of the project is to provide earlier diagnosis for patients with FH and support the NHS Long Term plan, so that they can receive treatment to lower their cholesterol and reduce the likelihood of developing heart disease.

So far:

11 Pharmacists throughout the region have received training and are now delivering FH genetic testing to patients within their own practices, reducing the travel time and waiting time for those patients.

The project is also supporting wider development of the Pharmacist workforce in delivering genomic medicine.

What’s next?

Information is currently being collected from the laboratories regarding the outcomes of the gene tests and from the pharmacists regarding their experiences in delivering genomic testing.

The next phase of the project is to embed training and accreditation of the pharmacists to support further roll-out.



As part of the project, in collaboration with the Genomics Education Programme and North Thames GMSA, a webpage outlining the project and collating resources for healthcare and the public has been developed.
Transformation project: Familial hypercholesterolaemia – Genomics Education Programme (

How can I learn more?

Contact us to learn more.

[email protected] 

Our Project team are:

Dr. Jude Hayward, NEY GMSA Primary Care Lead and GP, Shipley Medical Practice, Affinity Care

Dr. Jackie Cook, NEY GMSA Clinical Director