Researchers bring genetic data to family doctors’ practice

Led by researchers of the University of Tartu, a pilot study has been conducted to assess whether gene donors’ awareness of their risk of cardiovascular disease changes their health behaviour for the better and thus reduces the likelihood of developing the disease. The study revealed that if family doctors use genetic data to provide risk-based counselling, regular intervention leads to the improvement of health parameters.

There are more than 200,000 gene donors in Estonia and their gene samples show, among other things, their personal health risks. “Using genetic data is not yet widespread in clinical practice in Estonia, but such a large number of gene samples gives reason this think about how to use genetic data safely, securely and in a controlled manner to prevent and cure diseases in clinical practice,” said Research Fellow of Public Health of the University of Tartu Mikk Jürisson in his venia legendi lecture “Personalised prevention of cardiovascular diseases” at the Faculty of Medicine.

The research fellow described that people may have a genetic predisposition to traditionally non-heritable diseases, which can lead to polygenic diseases such as type 2 diabetes and cardiovascular disease. For the majority of the most common polygenic diseases, risk scores have been introduced to help assess how likely a person is to become ill and die from the disease. Knowing the risk score helps to make better decisions for prevention and treatment and turn it all to the advantage of the person’s health. “As most diseases are related to lifestyle, we hope that early knowledge of their risk allows people to re-evaluate their risk behaviour and manage the risk,” said Jürisson.

Preventing cardiovascular diseases

To see how genetic data could become a family doctor’s everyday tool, the project "Efficacy and usability of personal prevention of cardiovascular disease in individuals with high polygenic risk scores: a randomised clinical pilot study” was carried out, led by the Institute of Family Medicine and Public Health and the Institute of Genomics of the University of Tartu. The study focused on the prevention of cardiovascular disease because it is the most important cause of death in Estonia, although the disease itself and death from it can be prevented.

Jürisson gave the example of a middle-aged man with high genetic risk and borderline blood pressure and cholesterol values. “As a result of the overall risk assessment, the risk of both morbidity and death is calculated and visualised as interactive graphs. Changing the blood pressure and cholesterol values on the graph, both the doctor and the patient will see how the risk of the disease and death is reduced, and this could make people think and act," said Jürisson.

The study included persons aged 30 to 70 who had not yet been diagnosed with cardiovascular disease but had the highest polygenic risk scores based on the gene bank database. The study was carried out in two groups. The intervention group of 500 patients was immediately invited to the family doctor’s appointment to inform them of the high genetic risk, assess their overall risk of the disease, provide lifestyle counselling (on smoking, physical activity, diet and body weight) and offer treatment, where appropriate. The patient and the family doctor met three times during the study –  at months 1, 3 and 12.  Each time, markers that have been associated with cardiovascular disease but may change over time were compared: blood pressure, cholesterol, smoking, and the disease risk. The control group of also 500 patients was offered intervention only at the end of the monitoring period, at month 12.

Preliminary results

Jürisson described that in the intervention group, the effectiveness was confirmed rather early in the study. “Body weight, body mass index, waist circumference, blood pressure, cholesterol, blood sugar, physical activity and smoking had all improved after the third month,” he pointed out.

However, at month 12, these changes were not so significant any more. “Patients began to gain weight again and there was no longer a statistically significant difference in the waist circumference. This showed us that intervention will have a short-term impact and must be intense enough to achieve long-term success. We also saw that intervention has a stronger impact on aspects that can be treated, such as high blood pressure or cholesterol level. The aspects a person can control with lifestyle changes are less prone to be changed by intervention,” said Jürisson and added, “Most parameters changed for the better and this allows us to assume that the intervention does have an effect and bringing genetic data to the family doctor’s practice does improve health behaviour,” said the research fellow.

In the study, patients were also asked several questions, including about how patients feel about knowing about the genetic risk. “Knowledge of the risk created rather positive feelings in patients: they felt relieved, assured, appreciated and informed. It was interesting and graspable to them and did not cause anxiety or panic. This gives us reason to believe that we know how to advise high-risk people and this, in turn, is the basis for changes in health behaviour,” said Jürisson

Model for personalised prevention

Based on the pilot study, researchers are developing a personalised prevention model, which is essentially an opportunity for a spontaneous screening carried out during a family doctor’s appointment based on an assessment of the combined risk of cardiovascular disease. “For example, if a middle-aged patient of a family doctor has not been diagnosed with cardiovascular disease, but at least one risk factor (smoking, high blood pressure, high total cholesterol or polygenic risk of cardiovascular disease) has been identified, then a process should be initiated to assess other risk factors and the overall risk of the disease,” Jürisson described. He added that for prevention purposes, risk-factor based counselling and preventive treatment would be followed, if necessary.

Researchers expressed hope that this intervention would lead to improvements in people’s health parameters and in public health in general, and that if it works for cardiovascular diseases, it could also work for type 2 diabetes or other diseases as well as for other target groups apart from the middle-aged.

The results of the pilot project will soon be forwarded to the Ministry of Social Affairs and will serve as a basis for the introduction of counselling. Before the new counselling is introduced, the University of Tartu, in cooperation with the National Institute for Health Development, organises a two-year personalised medicine training for nearly 900 health care professionals, especially family doctors and nurses.

The study partners included the Institute of Family Medicine and Public Health of the University of Tartu, the Institute of Genomics of the University of Tartu, North Estonia Medical Centre, the University of Helsinki, Tartu University Hospital, Tallinn University of Technology and 67 Estonian family doctors.

See the video to learn about how the UT researchers cooperate with Estonian general practitioners and how each of us can benefit from that.


Further information:
Mikk Jürisson
Research Fellow of Public Health of the University