Doctors at two UK hospitals have launched a trial project to identify people with a hereditary condition that causes very high blood cholesterol, which increases their risk of having a heart attack. The Royal Surrey County Hospital and Frimley Park Hospital in Hampshire are together one of five pilot centres working with the London IDEAS Genetics Knowledge Park on a project to identify people with familial hypercholesterolaemia (FH).
One in 500 people in the UK has inherited FH, but 90 per cent of those with the condition (100,000 people) remain undiagnosed. The condition can increase the risk of a heart attack in men under fifty by ten-fold. However, if treated through diet, exercise, lifestyle changes and - in some cases - with statin drugs, this risk can be drastically reduced. The new project aims to approach people already diagnosed with FH, and test their relatives - around half of whom will also have the condition.
'With the consent of the patient and with complete respect for confidentiality, we approach those relatives and ask them if they want to take a test', said team leader Tim Wang. 'As we track new relatives, we will find out about more distant relatives, and hence it snowballs', he explained in a press release. Professor Steve Humphries, an FH expert and head of London IDEAS, said the project would use the practical potential of genetics to help human health. 'It is real preventative medicine at its best - not pie in the sky but something working to help people here and now', he added.
The team will be holding a briefing for local GPs on how people with FH can be traced and offered advice and treatment. Professor Humphries said that anyone who knows or suspects that they have very high blood cholesterol, or has a relative with very high blood cholesterol should ask their GP for advice.
The IDEAS team previously showed that this family tracing or 'cascade' approach is more efficient at identifying people with FH than offering a genetic test to the entire UK population. However, they stress that since GPs already have a huge workload, extra support from specially trained nurses will be vital to the success of the project. Eventually, the scientists hope to identify a set of common gene mutations that cause FH in the UK population. It may then be possible to develop a commercial test kit for use in existing NHS genetic testing centres, they say.
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