New research finds more effective blood test to detect genetic heart conditions

Posted: 02/03/2016

According to new research funded by the British Heart Foundation, a new blood test could diagnose people with inherited heart conditions. The research, which was recently published in the Journal of Cardiovascular Transitional Research, shows that it is possible to reliably detect underlying problems by looking at a specific group of genes. 

Inherited heart conditions affect more than 500,000 people in the UK and are often the cause of unexplained sudden deaths. For many, the first sign of such a condition is when a family member dies suddenly with no explanation. This can be devastating for relatives faced with the possibility that they or other family members may have inherited the faulty gene. 

Genetic testing on family members can identify those who carry the faulty gene and appropriate measures such as surgery, medication or simply lifestyle changes can be taken to reduce the risk of sudden death.

Diagnosing the faulty gene is key to effective treatment but existing genetic tests can only look at a small number of genes and identify specific conditions. As it is a time-consuming and costly process to reach a diagnosis, these tests have not been rolled out across the NHS. However, the new test, which will look at 174 genes related to 17 inherited heart defects, is cheaper and more effective. 

Dr James Ware, one of the lead researchers of the study at Imperial College London and the MRC Clinical Sciences Centre told The Guardian: “It’s really hard to overstate the importance of genetic testing when you’re managing a family with an inherited heart condition.” He explained that mothers or fathers who have lost their partner to an inherited heart condition understandably worry that their children may be next. Although there is no way to prove the child did not have the condition, Dr Wares advised that, with a genetic test, it is easy to say ‘you’re a risk' or ‘you’re absolutely clear'. 

In addition to the test being cheaper and more effective, Dr Ware also advised that it has the benefit of being ‘off the shelf’ which means that other experts can develop it. Therefore, when other genes are identified as being linked to inherited heart conditions, these can be incorporated into the test. 

The test has already been rolled out at the Royal Brompton and Harefield NHS Foundation Trust, with about 40 patients a month being assessed for an inherited heart condition. 

Miles Frost, aged 31, died from a congenital heart condition, which is thought to have been inherited from his father, David Frost. His family is aiming to raise £1.5 million in his memory to help make the genetic testing available to family members affected by inherited heart conditions available throughout the UK. 

Camilla Wonnacott, an associate in the Penningtons Manches clinical negligence team, said: “The development of more efficient and reliable diagnostic tests will hopefully help families to discover if they have a causative gene mutation and enable them to seek the appropriate treatment before it is too late.”

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