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Testing multiple genetic factors more accurate for heart disease risk

Tuesday 9th January 2018
Giving patients a polygenic risk score for heart disease risk is much more accurate than testing for familial hypercholesterolemia alone, new research shows. Image: shironosov via iStock
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Canadian scientists have been working on a new genetic testing method that is designed to analyse multiple genes to determine a person's risk of heart disease.

Doctors from McMaster University and Hamilton Health Sciences in Ontario and Laval University in Quebec have discovered that awarding patients a polygenic risk score based on multiple factors can provide an accurate prediction of how likely they are to be diagnosed with heart disease in the future.

Tests for a genetic defect known as familial hypercholesterolemia are already commonly used to monitor patients' bad cholesterol levels and identify if these are linked to their genetics.

But as well as testing for this defect, the Canadian researchers looked at a total of 182 genetic risk factors, combining patients' test results to give them an overall polygenic risk score.

This is because not all patients who are showing early signs of cardiovascular disease are found to have familial hypercholesterolemia following testing, meaning other genetic explanations are often needed.

For the purpose of the research, early onset heart disease in men was defined as being when the condition began to manifest before the age of 40, with this rising to the age of 45 in women. Participants came from multiple sources, including the UK BioBank study, as well as patients who had already visited a clinic with potential heart disease over the past few years.

The scientists found that while testing for familial hypercholesterolemia alone can identify a high risk for early onset heart disease in one out of every 256 patients, but the combined multiple genetic tests that produce a polygenic risk score accurately identified heart disease risk in one in every 53 individuals.

Guillaume Pare of McMaster University, senior author of the study, explained: "The increase in genetic risk was independent of other known risk factors, suggesting that testing for multiple genetic differences is clinically useful to evaluate risk and guide management.

"Combining polygenic screening with current testing for familial hypercholesterolemia could potentially increase five-fold the number of cases for which a genetic explanation can be found."

Written by Martin Lambert

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