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New blood test detects genetic heart conditions

New blood test detects genetic heart conditions
23rd February 2016

Researchers have developed a new blood test that can diagnose inherited heart conditions, which could improve the current process and potentially save both lives and money.

Their report, published in Journal of Cardiovascular Translational Research, looked at a specific set of genes. The team were able to develop a test that looked at these genes and determine whether there were any of the known inherited heart conditions.

Previous tests have been able to look at smaller groups of genes to rule out or diagnose a specific heart condition. This has limited the new test's ability to be rolled out, as it generates larger costs and long waiting times for patients.

With so many different types of genetic heart conditions possible, it's difficult to make a precise diagnosis, as well as determining the gene that has caused it. This is essential for getting the right treatment for the patient. 

However, the new test is both quicker and more reliable than before, potentially reducing costs and the length of time needed to wait for a diagnosis.

For many people, the only reason they are diagnosed with the condition is because a family member has died suddenly with no obvious explanation. Genetic testing can then be performed to determine who has the faulty gene and treatment can be recommended to reduce the risk of the condition being fatal.

However, genetic testing can be unreliable and certain genes can be missed, which can be challenging for patients. 

Now, the new test is able to look at 174 genes and has already been trialled on around 40 patients every month at the Royal Brompton & Harefield NHS Foundation Trust.

The work, which is the result of international collaboration from teams in Singapore, Imperial College London and at the Medical Research Council (MRC) Clinical Sciences Centre, was funded by the British Heart Foundation.

Dr James Ware, one of the lead researchers at the MRC Clinical Sciences Centre at  Imperial College London and a consultant cardiologist at Royal Brompton Hospital, said: "Genetic tests are invaluable when managing inherited heart conditions. They can help to make the initial diagnosis, and to choose the best treatment for the affected person. But where they make the biggest impact is in looking after that person's family."

He said without a genetic test, entire families often have to be kept under close surveillance for a number of years[,] as many conditions don't develop until later life.

However, with a genetic test that is able to pinpoint the precise abnormality causing the condition in a member of a family, it is a simple process to test others who may be at risk, Dr Ware added.

Professor Peter Weissberg, medical director at the British Heart Foundation, said inherited heart conditions represent a major cause of heart disease and are often results in the unexplained deaths in young people.

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