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Can coronary artery disease be detected early by including a polygenic (genetic) risk assessment?

The Early detection of coronary artery disease by polygenic and metabolic risk scoring (EDCAD-PMS) study aims to identify whether a polygeneic risk score (PRS) can predict the presence of coronary calcium in the arteries, which occurs when plaque is present.

Who can participate?

You may be eligible for this study if you:

  • are aged 40–70 years
  • live in Victoria or Tasmania*
  • are not currently taking cholesterol-lowering drugs ('statins')
  • have no previous personal history of heart failure, heart attack or stroke
  • have or had a family member or friend with coronary artery disease (e.g. has had a heart attack, stents or bypass surgery in the past).

* This study is being run in Victoria (Prahran or Hoppers Crossing) and Tasmania (Hobart).

Victorian applications for this study

Tasmanian applications for this study

This research is being conducted by the Baker Heart and Diabetes Institute, together with the Australian Genomic Research Facility. We have worked with the Menzies Institute for Medical Research to extend this study into Tasmania.

What’s involved?

Participation in this study gives you the opportunity for a free health assessment and participation in our lifesaving research to help prevent the onset of chronic disease.

The EDCAD-PMS program offers important advice on reducing your risk factors for better heart health, and is:

  • free
  • personal
  • confidential
  • voluntary.

Participation is simple

To see if you are eligible for the study, you just need to:

  • Complete questionnaires about your health.
  • Have your health assessment and blood tests measured.
  • Provide a blood sample for the polygenic (genetic) risk assessment.

You will be provided with some of your results.

If you are eligible to take part in the EDCAD-PMS study:

If you decide you want to participate you will be required to attend all clinic appointments so that we can assess your risk and measure the effectiveness of the study.

If you would like further information, please contact the Study Coordinators on:

T: (03) 8532 1135

More information

Coronary artery disease (CAD) is a major cause of illness and death in Australia. The current approach to preventing its consequences (heart attacks and angina) is to determine the level of risk based on risk factors such as blood pressure, cholesterol and diabetes, and to start treatment in those at high risk. Statins are a class of drugs often prescribed by doctors to help lower cholesterol levels in the blood. By lowering cholesterol levels, you can help prevent heart attacks and stroke.

Traditional risk factors only allow us to identify some people at risk, and therefore we are missing some of those who need early treatment to prevent a heart attack/stroke and potentially unnecessarily treating others. We, therefore, need better ways of identifying those who would benefit from treatment. We are trying to improve the prediction process to better identify those who may benefit from treatment.

Our genes contain the instructions for how our body works, and this can be thought of as a book. While each of us has a very similar book of instructions or set of genes, there are some differences between us that can affect how our body works. Sometimes these changes mean some of us are more likely to develop certain types of diseases. These differences between individuals are referred to as genetic variants. For CAD there are thought to be many genetic changes that may be associated with increased risk of having a serious cardiac event. Measurement of the many genetic changes associated with a disease is called a polygenetic risk score (PRS). We would like to examine participant’s genes to see if the genetic changes that are associated with CAD are also associated with coronary calcium and who are most likely to benefit from medication such as statins.

To perform the genetic risk score, we would like to collect a blood sample for genetic analysis, as well as ask the participant to have a standard “CAT” scan (CT) to identify if they have coronary calcification (a build-up of calcium in the heart’s arteries). If calcification is present, we will ask individuals to undertake a CT coronary angiogram (which involves injection of a contrast dye). We are trying to find out if there is a relationship between genetic changes and the presence of CAD identified via a CT angiogram.