Since it has been implemented the new testing strategy for Familial Hypercholesterolaemia has saved patient lives and the NHS money.

Familial Hypercholesterolaemia (FH) is a common inherited condition affecting around 1 in 250 people.  It is characterised by high levels of specific fats in the bloodstream called low-density lipoprotein cholesterol (LDL-C).  It is important to diagnose and treat the condition as early as possible as it can cause premature heart disease and stroke. However it can be difficult to identify individuals at risk and standard genetic testing is expensive and time consuming.

Action

As part of our role in the Academic Health Science Network North East North Cumbria (AHSN NENC)-funded NewGene project, we validated the cost efficiency of a novel diagnostic testing strategy for patients with suspected FH.  We evaluated a two stage testing approach where:

1. A rapid low cost test is used to identify patients with common gene alterations.
2. The current higher cost test is only used when gene changes are not detected in step 1.

Results

From our analysis we calculated that the two step testing strategy could create NHS cost savings of £65.91 per patient.

We used Health Survey for England data to create a web-based software tool to help recognise individuals who may have FH.  This involved taking into account age and gender when setting the LDL-C level that is considered to be an indicator of FH.

The project team developed and validated a process to proactively find individuals in the community who are at high risk of FH.   We used an integrated, optimised FH search tool within GP electronic patient record systems and established a nurse-led FH genetic testing outreach service.

Impact

• Saving lives through earlier diagnosis and quicker access to the right medications.  Figures suggest the new diagnostic service has prevented 12 deaths associated with FH in the region.
• NHS cost savings allowing resources to be used elsewhere for patient benefit.  The diagnostic service has saved the NHS an estimated £716k.
• Improving national guidance for FH identification and management by The National Institute for Health and Care Excellence (NICE).  They have incorporated our age and gender specific LDL-C ranges into their guideline document.
• Equipping GP surgeries with the ability to identify as many patients with FH as possible.   The two-step testing approach has been deployed in nine GP surgeries (population 94,444) and is reducing the burden on specialist cardiac services.
• Raising public awareness through hosting a discussion forum with the AHSN NENC.

This is part of a national programme launched by the AHSNs and NHS England and Improvement to achieve the NHS Long Term Plan.  The programme aims to improve identification rates for FH and help to prevent 150,000 cardiovascular disease events over the next 10 years.