Experienced doctors know that in the examination room, they often encounter complaints and symptoms that don't fit neatly within the frameworks described in medical textbooks. This is where personalized medicine comes into play — a new direction in healthcare that combines biotechnology, big data analytics and consideration of individual patient needs to offer more tailored and effective treatment.

The understanding that each person may experience unique clinical manifestations of the same illness and may respond differently to treatment has long been recognized in medical circles. In recent decades, technological advances in identifying biomarkers have supported the development of novel medications and more personalized approaches to health and disease. In essence, we are talking about solutions optimized specifically for each individual patient.

This modern medical approach is described by the term "personalized medicine," along with its more nuanced variations, such as "precision medicine." To assess disease risks, prevent them in a targeted way and to enable early diagnosis, prognosis and the selection of optimal treatment, the individual's unique characteristics — such as genetics, environment and lifestyle — are taken into account.

Role of family doctors in personalized medicine development

Family doctors in Estonia have played an important role in the development of personalized medicine. Advancing personalized medicine requires collaboration between various healthcare institutions, research organizations and technology companies. This also includes international cooperation and the sharing of best practices.

One of the largest and most successful personalized medicine initiatives has been the Estonian Genome Project, which began in the early 2000s. It was family doctors who actively participated in data collection and engaged their patients in the process. Later, Estonian family doctors have also taken part in studies of individuals with a high polygenic risk for cardiovascular disease, carried out both within Estonia and through international scientific collaboration.

These studies have shown that any form of prevention, including that based on genetic data, must be intensive and continuous — at least until the new health behavior becomes a habit.

Heart disease prevention

Cardiovascular disease (CVD) mortality in Estonia remains high and exceeds the European average. The incidence of heart disease is closely tied to several preventable risk factors, such as smoking, high cholesterol levels and lack of physical activity.

For most patients, the family doctor is the first point of contact with the healthcare system when health problems arise, which places an important responsibility on us to identify cardiovascular risk factors and provide patient counseling.

Compared with the Nordic countries, Estonia stands out for its significantly lower use of statins — medications that lower cholesterol. At the same time, scientific studies show that increased use of these medications, alongside efforts to reduce other risk factors, has yielded positive results, significantly lowering the incidence and mortality of heart attacks.

Thanks to genetic data research, it is becoming clear that in addition to known risk factors like smoking and high cholesterol, taking genetic risk into account can help prevent disease and assess the likelihood of developing it. Data from the Estonian Genome Project shows that people with a high genetic risk are more likely to develop heart disease and often at a younger age.

By identifying risks early, it is possible to begin preventive efforts at a younger age and delay or even prevent the onset of cardiovascular disease. When we compared the theoretical model of personalized prevention developed as part of the aforementioned CVD pilot project to standard practice in Estonia, we found that implementing this model could potentially reduce the incidence of first-time heart attacks by 25 percent — primarily due to increased statin use.

Unique cardiovascular health study

Taking all this into account, the University of Tartu, Tartu University Hospital and the North Estonia Medical Center, in collaboration with the Estonian Society of Family Doctors and pharmacies, have launched a large-scale and globally unique genetic study. Based on the data collected, the study aims to determine whether cholesterol-lowering treatment, guided by genetic risk, can more effectively prevent cardiovascular disease.

Over the course of five years, we plan to study 2,500 gene donors, with family doctors from across Estonia involved in the project. Family doctors play a key role in the study, as we provide patients with initial counseling, treatment options and ongoing monitoring. We encourage those invited to actively participate — not only will they contribute to the advancement of science, but they will also receive detailed and valuable information about their own health.

We hope this study will bring us closer to an even more effective use of personalized medicine and, thanks to these new insights, allow us to reduce cardiovascular disease mortality and improve people's quality of life.

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