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

Problem

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 and stroke. However, it can be difficult to identify individuals at risk and standard genetic testing is expensive and time consuming.

Action

We were commissioned by the Health Innovation North East North Cumbria (HI NENC), formerly the AHSN NENC, to evaluate a two stage testing approach where:

1. A rapid low cost test, developed by Northern Genetics Service and NewGene, is used to identify patients with common gene alterations.
2. The standard higher cost test is only used when gene changes are not detected during step 1.

Outcome

• We calculated that the two step testing strategy could create NHS cost savings of over £65 per patient.
• We created a web-based software tool to help recognise individuals who may have FH.
• As part of the project team, we developed and validated a process to find people in the community with FH.

Impact

• The two-step testing approach is now used by GP surgeries.
• The diagnostic service has saved the NHS an estimated £716,000.
• Our web-based software tool has influenced changes to a clinical guideline document.

This is part of a national programme to achieve the NHS Long Term Plan.  The programme aims to prevent 150,000 cardiovascular disease events over the next 10 years by improving the detection of FH.

Read more about the project