More comprehensive gene testing now available

22nd February 2016

Improvements in genetic testing mean doctors can now look for gene mutations on 174 genes thought to be responsible for inherited heart diseases.

The test, already being used at the Royal Brompton Hospital in London, has been developed from research funded by the Department of Health, the Wellcome Trust and the British Heart Foundation.

It has been known for a long time that mutations on many genes can contribute to the many types of cardiomyopathy. Thanks to second generation gene sequencing, new gene mutations responsible for cardiomyopathy are being discovered all the time, are even more are likely to be found in the future.

The new test, which is available to testing labs in the UK and overseas, is quicker and more reliable than previous tests, reducing costs and allowing patients to be diagnosed quickly and accurately. It is the result of an international collaboration between researchers in Singapore and Imperial College London.

Dr James Ware, one of the lead researchers and a cardiologist at the Brompton, 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.

 “Without a genetic test, we often have to keep the whole family under regular surveillance for many years, because some of these conditions may not develop until later in life. This is hugely costly for both the families and the health system.

“By contrast, when a genetic test reveals the precise genetic abnormality causing the condition in one member of the family, it becomes simple to test other family members. Those who do not carry the faulty gene copy can be reassured and spared countless hospital visits.”

At Cardiomyopathy UK we welcome this new development and see it as an important step towards making targeted genetic testing for cardiomyopathy more accessible. At this stage the new test is being rolled out so we don’t yet fully know how effective it will be in identifying people with the genetic mutations that are associated with cardiomyopathy. We will be working with clinicians to monitor this.

There is a general trend towards quicker, more accurate and cheaper genetic testing becoming available in the future and this could have a major impact on our ability to identify people with, or who are at risk of, developing cardiomyopathy. The charity wants to make sure that alongside the promising developments that we are now seeing, we can also develop our support and information services so that people with cardiomyopathy can get the help they need