Discovery could revolutionise heart disease detection

Heart disease is Australia’s leading cause of death — and now a breakthrough discovery could revolutionise detection.

Melbourne researchers are trialling a new test which analyses people’s genes to see if they’re at risk of coronary heart disease.

The test — which uses a sample of blood to predict the likelihood of someone developing the disease — will be given to 1000 people statewide.

It is hoped that the test will be especially useful for detecting heart disease among those not at obvious risk.

Cardiologist Tom Marwick — who leads the Baker Heart and Diabetes Institute initiative — said it would give Victorians an insight into their heart health that was “as unique as their fingerprint”.

“This is really a new approach … it’s really cutting edge,” Professor Marwick said. “And it means that this current process can be individualised.”

Coronary heart disease is Australia’s leading cause of death, killing about 17, 500 people a year.

But for many people, a heart attack or stroke is their first indication that something is wrong.

Siblings Tony and Anne Larkins have an extensive family heart history and are encouraging people to get on board with the research. Picture: Wayne Taylor

The Baker trial will give participants a “polygenic and metabolic risk score” and develop a heart profile specific to them. The formula for the score has been developed and tested over the past two years, but this is the first time it will be trialled on patients.

Prof Marwick hopes that, if proven effective, such “novel” testing could become routine and help prevent unnecessary deaths. He said traditional measures — including checking blood pressure, cholesterol, family history and having a CT scan — were important.

But more “individual” methods were needed to reduce the number who die from the disease every year.

“It’s much easier to deal with the disease when nothing acute is happening — there are a lot of positives to trying to pre-empt,” Prof Marwick said.

“I would really like to have the ability to use the power of new technologies to identify the disease before it turns into a crisis.”

Siblings Tony, 57 and Anne Larkins, 68, know just how crucial early detection can be.

The pair — who are two of seven children — lost a sister and a cousin to heart disease at age 49 and watched both parents undergo bypass surgery.

After Ms Larkins last year suffered a heart attack and almost died, her brother decided to take part in a pilot study at the Baker Institute profiling the risk of cardiovascular disease.

“What they told me at the end was that my heart health hadn’t changed much at all, it stayed basically the same for two years,” Mr Larkin said.

“It’s not a guarantee but it just gives you a guide as to where you’re at. I’ve got three children and hopefully it’s helping medical science improve for them if it is genetic.”

The trial will be open to Victorians aged 40 to 70 who have had a relative or friend with heart disease.

It will also look at how participants best respond to the information if they are at risk in order to better communicate the dangers before it’s too late.

For more information go to baker.edu.au/research/clinical-trials/edcad-pms