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PostPosted: 24 Feb 2016 11:14 
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The Blood test identifies 174 genes relating to 17 heart defects, and is cheaper and more effective than existing assessments.
The research was funded by the British Heart Foundation and the Health Innovation Challenge Fund.

A blood test has been created that can detect all known inherited heart condition genes, boosting the prospects of diagnosing potentially fatal defects, the British Heart Foundation (BHF) said. The research, funded by the BHF and the Health Innovation Challenge Fund grant – a partnership between the Department of Health and the Wellcome Trust – was the result of an international collaboration between UK and Singaporean researchers.

IHCs affect the heart and circulatory system, are passed down through families and can affect people of any age. By identifying 174 genes related to 17 inherited heart defects, which affect more than half a million people in the UK and are often the cause of unexplained sudden deaths, the assessment should help people obtain appropriate treatment.

The research, published in the Journal of Cardiovascular Translational Research on Friday, has already led to the test being introduced at Royal Brompton and Harefield NHS foundation trust – where about 40 patients a month are being assessed for an inherited heart condition (IHC). The hope is that it will eventually be adopted by NHS labs across the country.

Dr James Ware, one of the lead researchers on the study at Imperial College London and the MRC Clinical Sciences Centre, said: “It’s really hard to overstate the importance of genetic testing when you’re managing a family with IHCs.

“I often will find a young father or mother having recently lost their partner to an IHC and worried that their children will be next.

Ware, who also a consultant cardiologist at Royal Brompton hospital, added: “There’s almost no way I can prove their children don’t have the condition because even if they don’t now they could develop it later. But if you can do a genetic test it becomes very easy to say ‘you’re at risk’ or ‘you’re absolutely clear’.”

The test is cheaper and more effective than existing assessments, which look at a smaller number of genes and only identify specific conditions. Ware said it also has the benefit of being “off the shelf” so that other experts can develop it. This means that as other genes are identified as being linked to IHCs, they too can be incorporated into the test.

Last year, Sir David Frost’s son Miles died, aged 31, having not been told he was at risk from the congenital heart condition hypertrophic cardiomyopathy (HCM), believed to be inherited from his father.

Last month his family launched a fund in Miles’s memory, aiming to to raise £1.5m to ensure that genetic testing for immediate family members of those affected by HCM is available nationwide.

If effective, genetic testing on family members can identify those who carry the faulty gene and steps can be taken to reduce the risk of sudden death, such as surgery, medication – for example beta blockers – or lifestyle changes.

Prof Peter Weissberg, medical director at the BHF, said: “In this rapidly evolving field of research the aim is to achieve ever greater diagnostic accuracy at ever-reducing cost.


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