Genetic Testing a Lifesaver

Genetic testing - MHF

Interview with Professor Chris Semarian, Cardiologist, Royal Prince Alfred Hospital & University of Sydney
Extract: MHF Life, 2nd Edition, 2019
Publishing Partner: Access News

GENETIC testing for people with a family history of cardiac arrest has progressed exponentially in the past decade and could well be a life saver, according to cardiologist Professor Chris Semsarian.

Prof Semsarian, who works out of Royal Prince Alfred Hospital and the University of Sydney, is supporting the Michael Hughes Foundation in its bid to see a reduction in the number of cardiac arrests, many of which prove fatal.

“The key thing is to get young people under the age of 40 with a family history to get tested – the technology for this has really advanced in the past few years,” he said.

“Ten years ago it would have taken me a year to study just one gene; today I can take blood and within six weeks all 22,000 genes carried in the human body can be tested.

“The biggest problem is that our knowledge is not keeping pace with the technology.

“We can test the genes but we need to know more about which genes cause which conditions – which are heart genes, that’s the challenge – but we’re getting there.

“This is why research is so very important.”

Even so, a genetic analysis can help prevent an early death from cardiac arrest, Prof Semsarian said.

“If someone dies suddenly from a cardiac arrest, we can now diagnose the exact cause and that knowledge can be invaluable in helping other family members,” he said.

First steps

“If you have had a family member die unexpectedly of an attack, genetic testing can help us find out how to prevent the same thing happening to you.”

The first step in organising testing is to visit a GP for a referral to a cardiologist, he said.

“The cardiologist might ask for some more information if you have had a relative die from cardiac arrest – things like any symptoms exhibited prior to death and whether or not there was a postmortem,” he said.

“The cardiologist will do some clinical testing including an ECG, an echocardiogram (ultrasound) and an exercise test.

“If these are suggestive of a heart condition, the cardiologist might consider genetic testing to pinpoint the exact family cause.

“Once the cause has been pinpointed, there are a lot of measures which can be taken to prevent an attack.

“Lifestyle modification, including avoiding high level competitive sports, is one measure which could be suggested.

“Medications can prevent life-threatening rhythm problems and sudden death and surgical insertion of an implantable defibrillator being into the chest of the patient can detect abnormal rhythms and deliver a shock if necessary, to prevent sudden death.”

Prof Semsarian said a clinical evaluation through a public hospital has no out-of-pocket costs and genetic testing is covered by many hospitals or research programs.

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