Blood Test Breakthrough Improves Diagnosis of Inherited Heart Conditions

A new genetic test for heart conditions which are passed down through families has been developed by researchers funded by your donations.

Blood Test Breakthrough Improves Diagnosis of Inherited Heart Conditions

The international team of researchers, led by Professor Stuart Cook, in Singapore, Imperial College London and at the MRC Clinical Sciences Centre showed that by looking at a particular group of genes they were able to reliably test for all known inherited heart condition genes with one simple blood test.

Professor Cook has been working on this research, published in the Journal of Cardiovascular Translational Research, since we funded his PhD studies when he first became a researcher.

Cheaper and more efficient diagnosis

Previous genetic tests for inherited heart conditions looked at a smaller number of genes and were only able to identify specific conditions. These tests were generally more expensive, harder work and ultimately meant it was longer before a diagnosis could be made. This has been a major barrier to the nationwide roll-out of genetic testing in the NHS.

Find out how we hope to roll-out genetic testing for the inherited condition hypertrophic cardiomyopathy with donations to the Miles Frost Fund.

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.

This research was also funded by the Health Innovation Challenge Fund, which is a partnership between the Department of Health and the Wellcome Trust, and was supported by the NIHR Royal Brompton Cardiovascular Biomedical Research Unit.

What are inherited heart conditions?

Inherited heart conditions are conditions affecting the heart and circulatory system which are passed down through families. They can affect people of any age, and can be life-threatening.

There are many different types of inherited heart conditions so diagnosing the exact condition and gene causing it is key to effective treatment. For many people, the first sign that they have an inherited heart condition is when a member of their family dies suddenly with no obvious explanation.

Genetic testing saves lives

Genetic testing on family members can then identify those who carry the faulty gene and steps can be taken to reduce the risk of sudden death, such as surgery, medication or lifestyle changes. However, sometimes genetic tests are not as reliable as they could be and can miss critical genes which can cause problems for patients with complex diagnoses.

Dr James Ware, one of the lead researchers on the BHF-funded study at Imperial College London and a consultant cardiologist at the 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.

"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."

Progress through research

Our Medical Director, Professor Peter Weissberg, said: "As research advances and technology develops, we are identifying more and more genetic mutations that cause these conditions. In this rapidly evolving field of research the aim is to achieve ever greater diagnostic accuracy at ever-reducing cost.

"This research represents an important step along this path. It means that a single test may be able to identify the causative gene mutation in someone with an inherited heart condition thereby allowing their relatives to be easily tested for the same gene."


British Heart Foundation