Achieving the NHS long term plan by improving the diagnosis of Familial Hypercholesterolaema
Since it has been implemented the new testing strategy for Familial Hypercholesterolaema has saved patient lives and the NHS money.
Familial Hypercholesterolaemia (FH) is a common inherited condition, affecting around 1 in 250 people. It is important to diagnose and treat the condition as early as possible as it can cause premature heart disease. However it can be difficult to identify individuals at risk and standard genetic testing is expensive.
As part of our role in the 2014 Academic Health Science Network North East North Cumbria (AHSN NENC)-funded NewGene project, we validated the cost efficiency of a novel two-stage diagnostic testing strategy for patients with suspected FH in the region.
Figures suggest the new diagnostic service has saved the NHS an estimated £716k and prevented 12 deaths associated with FH.
We created a web-based software tool to help identify individuals at high risk of having FH. This involved refining existing clinical thresholds for testing to account for age and gender.
- The two-step testing approach has been deployed in nine general practices (population 94,444).
- This project is currently being scaled-up and being pushed for widespread national adoption.
- This is the first phase of an AHSN NENC nationally led programme focused upon reducing cardiovascular disease.
- Our work has contributed to The National Institute for Health and Care Excellence (NICE)’s guideline document for FH.
- In February 2020 we hosted a discussion forum with the AHSN NENC to raise further awareness of FH in the region.