New genetic blood test identifies all known inherited heart conditions

Current tests are more expensive but pinpoint less conditions 

Kashmira Gander
Friday 19 February 2016 12:39 GMT
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Louise Thomas

Louise Thomas

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A new cheaper and more effective genetic test which detects all known inherited heart conditions is expected to be taken up by hospitals.

Current tests assess a small number of genes to identify a limited number of conditions. However, the new blood test detects all conditions which are currently known by clinicians.

By examining 174 genes, doctors are able to identify faults and begin treatment that can minimise the risk of death.

Around half a million people in the UK have inherited heart conditions. Such diseases can cause life-threatening issues in people of all ages.

In many cases, people do not know they have an inherited a heart condition until a member of their family dies unexpectedly.

In January, the BHF launched the Miles Frost Fund in memory of Sir David Frost's son, Miles, who died suddenly last year of an undiagnosed heart condition called hypertrophic cardiomyopathy (HCM). The family believes Miles inherited HCM from his father.

The test, developed using funding form the British Heart Foundation (BHF), is currently being used by the Royal Brompton and Harefield NHS Foundation Trust.

Dr James Ware, from the Royal Brompton, said that previous tests can help with an initial diagnosis, but doctors must then keep the "whole family under regular surveillance for many years" because conditions can emerge 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.

"This new comprehensive test is increasing the number of families who benefit from genetic testing."

Professor Peter Weissberg, medical director at the BHF, said: "Collectively, inherited heart conditions represent a major cause of heart disease and are often the cause of an unexplained sudden death in a young person.

"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."

Additional reporting by PA

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