Heart disease test rolled out in UK

A new test that can analyse the patient's risk of developing a preventable form of heart disease will now be offered to people across the UK. The simple blood test uses DNA to identify whether or not the person has familial hypercholesterolaemia (FH).

The inherited condition, if left untreated, can significantly increase a patient's risk of experiencing a heart attack. Early intervention can bring the risk of people with FH to a normal level, but left undiagnosed nearly half of patients with the condition will develop heart disease before they are 60 years old.

Those diagnosed with FH are at a higher risk because they inherit a gene that causes high levels of "bad" cholesterol (LDL) in the blood. This can harden arteries and lead to an increased risk of heart disease, but now the new test can check whether the faulty gene is present or not.

A £1 million investment from the British Heart Foundation (BHF) will pay for a team of specialist nurses and will see the test extended to eight NHS trusts in England and Scotland, after a successful pilot scheme in Wales.  

The Welsh scheme, funded by the BHF and government, identified 1,183 people likely to have FH. It showed that 492 of these individuals carried the faulty gene, but their cholesterol levels were brought down to the normal range by statin treatment.

Although a number of trusts are included across England and Scotland, some areas will still not have access to nearby testing services, which has sparked criticism that NHS England should launch the service as a national initiative so that everyone has local testing available.

Steve Humphries, British Heart Foundation (BHF) professor of cardiovascular genetics at University College London, said he was "delighted" the test was now being rolled out in the UK.

He said: "With an estimated one-in-200 hundred families carrying an FH-causing faulty gene in the UK, the introduction of cascade testing represents a huge opportunity to identify and treat people before they suffer from potentially life-threatening heart problems."

As the gene is inherited, once a patient is diagnosed, the rest of their family will also be offered testing. When a patient has the FH gene, around half their siblings and children will also have it and be at the same risk of early heart disease.