THE North-East is introducing an innovative programme of genetic testing which could save lives.

Designed to detect familial hypercholesterolaemia (FH), a potentially deadly inherited condition causing very high blood cholesterol, it is the first time the tests have been made available on the NHS.

If left undiagnosed and untreated, FH can leave individuals at high risk of developing heart disease and dying suddenly at a young age from a heart attack.

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On average, FH shortens life expectancy by 20 to 30 years if left untreated.

If one person is found with FH, on average half their brothers and sisters, and half of their children, will also have the gene alteration and be at risk of early heart disease.

The regional programme has been jointly funded by the British Heart Foundation, the Academic Health Science Network for North-East and north Cumbria (AHSN NENC) and Clinical Commissioning Groups (CCGs) across the region.

With a specialist DNA blood test, an FH nurse can identify whether an individual with a clinical diagnosis of FH carries the faulty gene.

If this is discovered, their family members are then referred for family cascade testing. All immediate first-degree relatives – a parent, sibling, or child - are invited for testing and treatment at their local clinic.

Once diagnosed, early treatment with statins can reduce cholesterol to a normal level and, together with lifestyle advice, means that an individual with FH will have the same life expectancy as the general population.

The service will be delivered through the regional network of lipid clinics, currently running in nine hospitals across the North-East and Cumbria, which provide specialist support to people with high blood fats.

The newly established team of specialist FH nurses will have responsibility for day-to-day running of the FH genetic cascade testing programme and ensure that members of affected families have access to genetic testing.

Dr Dermot Neely, chair of the regional Lipid Specialists Advisory Group, said: “It’s great news that the region is finally going to have access to this ground-breaking test.

“FH is a silent killer which, unless diagnosed early, can have a devastating impact on affected families. If you have high cholesterol and have lost a parent, sibling or grandparent at a young age from a heart attack, you might have undiagnosed FH. Having a test which can diagnose a gene alteration means treatment can be started in time to prevent early deaths from heart disease.”