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ASHG: High Polygenic Risk Score for Heart Disease Motivates Patients to Make Lifestyle Changes

NEW YORK (GenomeWeb) – Patients at increased risk of heart disease who receive combined clinical and genetic risk information via a web-based interactive tool are motivated to make lifestyle changes, especially so if their polygenic risk score is high, according to researchers from Finland.

In an ongoing study called GeneRisk, presented last week at the American Society of Human Genetics annual meeting in San Diego, researchers led by a team at the Institute for Molecular Medicine Finland at the University of Helsinki found that about a third of patients who were told they have a high risk of developing cardiovascular disease — based on both clinical and genetic factors — made changes to their lifestyle, such as losing weight or quitting smoking. Having a high genetic risk especially motivated people in this group to take action.

According to principal investigator Elisabeth Widén, polygenic risk scores for heart disease and other disorders have been around for a while but their clinical use has been minimal so far. To test how individuals might use genomic risk information in combination with other risk factors, they embarked on GeneRisk, a prospective study that includes about 7,350 randomly selected middle-aged patients from Southern Finland.

Based on traditional clinical factors such as age, sex, body mass index, blood lipid levels, blood pressure, and smoking status, they calculated participants' 10-year risk for developing cardiovascular disease. They also reported their 10-year CVD risk based on a combination of traditional and genomic risk data, using a polygenic risk score that was calculated from 49,000 common genetic variants. A 2016 study published in the European Heart Journal had shown that incorporating this type of genomic risk score improves the prediction of overall heart disease risk.

Participants received their 10-year CVD risk through a web-based tool with an interactive graphical interface called KardioKompassi in one of two ways: based on traditional factors alone and according to a combination of traditional and genomic risk. That tool allowed them to compare their own risk to that of the overall study population, look at CVD risk as a function of age, and explore how their risk would change if they made lifestyle changes, for example stopped smoking.

Anyone with a combined 10-year CVD risk of more than 10 percent was advised to see a physician, and about 25 percent of the study cohort fell into this category. Of these, 40 percent were smokers, a mere 17 percent received statin therapy, and 12 percent fell into this category because their polygenic risk score had upgraded their clinical risk from a lower-risk category.

A year and a half after receiving their results, study participants were reassessed through an online questionnaire and invited for a follow-up clinical visit. Of the 5,000 or so who responded to the questionnaire, 90 percent said they had received information that was useful and easy to understand, 22 percent found the results to be unexpected, and 29 percent said the results were of concern to them. About 89 percent said their personal risk information inspired them to make changes to their lifestyle.

When the researchers looked at what types of changes participants had actually made, they found that both the high-risk and low-risk groups had taken action, but at different rates. Overall, 36 percent of those with a CVD risk greater than 10 percent had lost weight, stopped smoking, or seen a physician, whereas only 21 percent of those with a lower CVD risk had done so.

The researchers then asked what set high-risk participants who took action apart from high-risk individuals who did not and found that the former tended to have a higher polygenic risk score, while other factors, such as age, body mass index, or cholesterol levels, were similar between the two groups.

However, those with a high overall CVD risk where the polygenic risk score had lowered their traditional risk were not necessarily less motivated — they lost the same amount of weight, for example, as those with high CVD risk and high genetic risk scores, Widén reported.

Overall, she said, the study shows that communicating integrated genomic and traditional risk information for complex chronic diseases through an interactive tool can help motivate individuals to make lifestyle changes.