Gene testing for inherited heart condition may prevent deaths

Gene testing could help cut heart attacks and strokes. Picture: AFP/Getty Images
Gene testing could help cut heart attacks and strokes. Picture: AFP/Getty Images
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Genetic testing for close relatives of people with a common and potentially deadly inherited condition is highly cost effective and would prevent thousands of premature heart attacks, strokes and deaths over the coming decades, according to new research funded by the British Heart Foundation.

The study, published today in the European Heart Journal, found that over a 30-year period 1,668 cases of heart attack, stroke and angina, as well as an additional 276 deaths caused by Familial Hypercholesterolaemia (FH), could be avoided, for every 12,000 first degree relatives tested for the condition.

It affects approximately 250,000 people in the UK but only about 18,000 of these people are currently diagnosed. The condition causes abnormally high levels of cholesterol in a person’s blood from birth, meaning that otherwise healthy individuals are at a much greater risk of having a heart attack at a young age.

If untreated, at least 50 per cent of men with FH will develop coronary heart disease by age 50, and 30 per cent of women by age 60. The risk of death from a heart attack at age 20-39 is increased 80-84-fold in FH patients. However, despite recommendations from the National Institute for Health and Care Excellence (NICE) in 2008 to introduce ‘cascade’ testing for immediate family members of those affected by the condition, no systematic UK-wide programme exists today.

The researchers found this model of testing and treatment to be far more cost effective than the current threshold set by NICE in order to determine which treatments are likely to be recommended for use in the NHS. The estimated Incremental Cost Effectiveness Ratio (per relative tested was £5,806, compared to the NICE threshold of £20,000 -£30,000.

Professor Sir Nilesh Samani, Medical Director for the BHF said: “This is a very important study. If people aren’t identified and treated for FH early they could have a heart attack at a young age or die before ever getting a diagnosis. This study shows testing for FH in those with a family history, so called cascade testing, does not only have the potential to save lives but is also highly cost-effective. Although testing has been recommended in the NHS for some time, its application is patchy and evidence presented in this paper hopefully provides a stimulus to do better.”