Researchers bring genetic data to family doctors’ practice | University of Tartu

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Lossi 36, 51003 Tartu
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Vanemuise 46–208, 51014 Tartu
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    Riia 23b, 51010 Tartu
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Support Units
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  • View all other units

Contacts of UT units

Faculty of Arts and Humanities
Faculty phone: 
+372 737 5341
Faculty address: 
Jakobi 2, rooms 116–121, 51005 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5341
    Faculty address: 
    Jakobi 2, rooms 116–121, 51005 Tartu
  • Institute of History and Archaeology
    Faculty phone: 
    +372 737 5651
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Estonian and General Linguistics
    Faculty phone: 
    +372 737 5221
    Faculty address: 
    Jakobi 2, 51005 Tartu
  • Institute of Philosophy and Semiotics
    Faculty phone: 
    +372 737 5314
    Faculty address: 
    Jakobi 2, rooms 309–352, 51005 Tartu
  • Institute of Cultural Research
    Faculty phone: 
    (+372) 737 5223
    Faculty address: 
    Ülikooli 16, 51003 Tartu
  • School of Theology and Religious Studies
    Faculty phone: 
    +372 737 5301
    Faculty address: 
    Ülikooli 18–310, 50090 Tartu
  • College of Foreign Languages and Cultures
    Faculty address: 
    J. Liivi 4, 50409, Tartu
  • Viljandi Culture Academy
    Faculty phone: 
    +372 435 5232
    Faculty address: 
    Posti 1, 71004 Viljandi
Faculty of Social Sciences
Faculty phone: 
+372 737 5957
Faculty address: 
Lossi 36, 51003 Tartu
  • Dean's Office
    Faculty phone: 
    + 372 737 5900
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Institute of Education
    Faculty phone: 
    +372 737 6440
    Faculty address: 
    Salme 1a–29, 50103 Tartu
  • Johan Skytte Institute of Political Studies
    Faculty phone: 
    +372 737 5582
    Faculty address: 
    Lossi 36–301, 51003 Tartu
  • School of Economics and Business Administration
    Faculty phone: 
    +372 737 6310
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Institute of Psychology
    Faculty phone: 
    +372 737 5902
    Faculty address: 
    Näituse 2, 50409 Tartu
  • School of Law
    Faculty phone: 
    +372 737 5390
    Faculty address: 
    Näituse 20–324, 50409 Tartu
  • Institute of Social Studies
    Faculty phone: 
    +372 737 5188
    Faculty address: 
    Lossi 36, 51003 Tartu
  • Narva College
    Faculty phone: 
    +372 740 1900
    Faculty address: 
    Raekoja plats 2, 20307 Narva
  • Pärnu College
    Faculty phone: 
    +372 445 0520
    Faculty address: 
    Ringi 35, 80012 Pärnu
Faculty of Medicine
Faculty phone: 
+372 737 5326
Faculty address: 
Ravila 19, 50411 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5326
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Biomedicine and Translational Medicine
    Faculty phone: 
    +372 737 4210
    Faculty address: 
    Biomeedikum, Ravila 19, 50411 Tartu
  • Institute of Pharmacy
    Faculty phone: 
    +372 737 5286
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Dentistry
    Faculty phone: 
    +372 731 9856
    Faculty address: 
    Raekoja plats 6, 51003 Tartu
  • Institute of Clinical Medicine
    Faculty phone: 
    +372 737 5323
    Faculty address: 
    L. Puusepa 8, 50406 Tartu
  • Institute of Family Medicine and Public Health
    Faculty phone: 
    +372 737 4190
    Faculty address: 
    Ravila 19, 50411 Tartu
  • Institute of Sport Sciences and Physiotherapy
    Faculty phone: 
    +372 737 5360
    Faculty address: 
    Jakobi 5–205, 51005 Tartu
Faculty of Science and Technology
Faculty phone: 
+372 737 5820
Faculty address: 
Vanemuise 46–208, 51014 Tartu
  • Dean's Office
    Faculty phone: 
    +372 737 5820
    Faculty address: 
    Vanemuise 46–208, 51003 Tartu
  • Institute of Computer Science
    Faculty phone: 
    +372 737 5445
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Estonian Marine Institute
    Faculty phone: 
    +372 671 8902
    Faculty address: 
    Mäealuse 14, 12618 Tallinn
  • Institute of Physics
    Faculty address: 
    W. Ostwaldi 1, 50411 Tartu
  • Institute of Chemistry
    Faculty phone: 
    +372 737 5261
    Faculty address: 
    Ravila 14a, 50411 Tartu
  • Institute of Genomics
    Faculty phone: 
    +372 737 4000
    Faculty address: 
    Riia 23b, 51010 Tartu
  • Institute of Mathematics and Statistics
    Faculty phone: 
    +372 737 5860
    Faculty address: 
    Narva mnt 18, 51009 Tartu
  • Institute of Molecular and Cell Biology
    Faculty phone: 
    +372 737 5027
    Faculty address: 
    Riia 23, 23b–134, 51010 Tartu
  • Tartu Observatory
    Faculty phone: 
    +372 737 4510
    Faculty address: 
    Observatooriumi 1, Tõravere, 61602 Tartumaa
  • Institute of Technology
    Faculty phone: 
    +372 737 4800
    Faculty address: 
    Nooruse 1, 50411 Tartu
  • Institute of Ecology and Earth Sciences
    Faculty phone: 
    +372 737 5835
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Institutions
  • Library
    Faculty phone: 
    +372 737 5702
    Faculty address: 
    W. Struve 1, 50091 Tartu
  • Youth Academy
    Faculty phone: 
    +372 737 5581
    Faculty address: 
    Uppsala 10, 51003 Tartu
  • Museum
    Faculty phone: 
    +372 737 5674
    Faculty address: 
    Lossi 25, 51003 Tartu
  • University of Tartu Natural History Museum and Botanical Garden
    Faculty phone: 
    +372 737 6076
    Faculty address: 
    Vanemuise 46, 51003 Tartu
Support Units
  • Administrative Office
    Faculty phone: 
    +372 737 5606
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Centre for Entrepreneurship and Innovation
    Faculty phone: 
    +372 737 4809
    Faculty address: 
    Narva mnt 18, 51009, Tartu
  • University Office in Tallinn
    Faculty phone: 
    +372 737 6600
    Faculty address: 
    Teatri väljak 3, 10143 Tallinn
  • Estates Office
    Faculty phone: 
    +372 737 5137
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Finance Office
    Faculty phone: 
    +372 737 5125
    Faculty address: 
    Jakobi 4, 51005 Tartu
  • Grant Office
    Faculty phone: 
    +372 737 6215
    Faculty address: 
    Raekoja plats 9, 51004 Tartu
  • Information Technology Office
    Faculty phone: 
    +372 737 6000, IT-help: +372 737 5500
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Human Resources Office
    Faculty phone: 
    +372 737 5145
    Faculty address: 
    Ülikooli 18, rooms 302 and 304, 50090 Tartu
  • Internal Audit Office
    Faculty address: 
    Ülikooli 18-244, 51005 Tartu
  • International Cooperation and Protocol Office
    Faculty phone: 
    +372 737 6123
    Faculty address: 
    Ülikooli 18, rooms 104, 301, 305, 50090 Tartu
  • Marketing and Communication Office
    Faculty phone: 
    +372 737 5687
    Faculty address: 
    Ülikooli 18, rooms 102, 104, 209, 210, 50090 Tartu
  • Office of Academic Affairs
    Faculty phone: 
    +372 737 5620
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Procurement Office
    Faculty phone: 
    +372 737 6632
    Faculty address: 
    Ülikooli 18a, 51005 Tartu
  • Rector's Strategy Office
    Faculty phone: 
    +372 737 5600
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • Student Council
    Faculty address: 
    Ülikooli 18b, 51005 Tartu
  • University of Tartu Press
    Faculty phone: 
    +372 737 5945
    Faculty address: 
    W. Struve 1, 50091 Tartu
Other Units
  • University of Tartu Academic Sports Club
    Faculty phone: 
    +372 737 5371
    Faculty address: 
    Ujula 4, 51008 Tartu
  • Tartu Student Village
    Faculty phone: 
    +372 740 9959
    Faculty address: 
    Narva mnt 25, 51013 Tartu
  • Tartu Students’ Club
    Faculty phone: 
    +372 730 2400
    Faculty address: 
    Kalevi 24, 51010 Tartu
  • Tartu University Hospital
    Faculty address: 
    L. Puusepa 1a, 50406 Tartu
  • University of Tartu Foundation
    Faculty phone: 
    +372 737 5852
    Faculty address: 
    Ülikooli 18, 50090 Tartu
  • View all other units

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
mikk.jurisson [ät] ut.ee
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