The science of

Early detection, prevention and personalized intervention are fundamental for promoting optimal health.​

The risk of developing cardiovascular diseases can be assessed through genetic analysis using the Polygenic Risk Score (PRS) method. In addition, taking into consideration lifestyle and phenotype characteristics, the risk can be further assessed dynamically through the Adjusted PRS, thus contributing significantly to prevention.​

Polygenic Risk Score (PRS). What is it?​

The PRS takes into consideration a plethora of genetic polymorphisms (SNPs) to assess the genetic risk of developing a particular condition. Each genetic polymorphism can exert either a protective or predisposing effect, while by itself it tends to contribute little to the risk of developing a condition. However, cumulatively those small genetic differences can have a significantly larger impact.

Therefore, the PRS is a weighted sum of the number of risk alleles carried by an individual. The risk alleles and their weight are defined by their measured effects, as detected by published Genome Wide Association Studies (GWAS).​

Adjusted PRS. What is it?​

The Adjusted PRS dynamically estimates the combined risk of cardiovascular disease, taking into account lifestyle and phenotype characteristics, through a validated cardiovascular health questionnaire*.

More specifically, it examines nutritional habits, physical activity level, smoking, body mass index (BMI), blood pressure, total cholesterol and sugar intake to adjust the PRS and estimate risk based on age and current cardiovascular health status.

While the PRS is calculated once and is constant throughout life, the Adjusted PRS can be calculated multiple times over a lifetime based on the individual's lifestyle and phenotype.​

In conclusion, the Polygenic Risk Score (PRS) and the Adjusted PRS function as a screening tool for assessing the genetic and phenotypic risk of developing cardiovascular diseases and their role lies in prevention.​

What does the evidence show​

Our knowledge of the genetic factors underlying cardiovascular disease predisposition has improved to the point where polygenic risk profiling can provide personal and clinical utility.​

Scientific article: (Torkamani, A. et al. 2018)​

Compared to conventional risk factors, people who find out their polygenic risk score are more likely to initiate positive lifestyle changes, demonstrate higher compliance to their treatment, and enjoy better outcomes.​

Scientific article: (Kullo, I.J., et al., 2016)​

The implementation of PRS can improve the quality of cardiovascular health, reduce the average cost of medical care and prevent future cardiovascular events, with significant benefits in young adults.​

Scientific article: (Mujwara, D., et al., 2022)​

The Adjusted PRS, through the incorporation of conventional risk factors following PRS calculation, may lead to the prevention of early onset of cardiovascular disease and could translate into significant health benefits.​

Scientific article: (Sun, L., et al., 2021)​