Prevention of Cardiovascular Diseases

A) Cardiovascular Diseases

Genetic Risk Assessment for Coronary Artery Disease

According to published studies¹, individuals with a high genetic risk (top 20% of the Polygenic Risk Score – PRS) are 91% more likely to develop coronary artery disease compared to those with low PRS (bottom 20%). However, even individuals at high genetic risk can reduce their risk of coronary artery disease by up to 50% through healthy lifestyle choices such as quitting smoking, engaging in physical activity, maintaining a healthy weight, and following a tailored diet.

The test combines 31 genetic variants with GENOSOPHY®’s award-winning algorithm, ensuring high reliability in assessing genetic risk.

Conditions covered by the test

This test estimates the relative risk of coronary artery disease in the general population (excluding familial genetic risk). It is recommended for:

  • Individuals with intermediate risk for cardiovascular disease, where PRS assessment may significantly improve clinical decision-making accuracy.

  • Younger individuals who wish to assess their long-term risk for cardiovascular conditions.

Clinical Benefits of GENOSOPHY®’s Polygenic Risk Score

  • Diagnosis: More accurate identification of individuals with increased genetic risk for coronary artery disease who may require closer monitoring.

  • Prognosis: Reliable prediction of the risk of cardiac events, contributing to personalized preventive strategies.

  • Management: Design of personalized preventive interventions in diet and lifestyle based on genetic risk.

B) Dyslipidemia

Genetic Risk Assessment for Dyslipidemias

According to published studies¹², individuals with a high genetic score have up to a 45% higher risk of lipid disorders. Specifically, the relative risk increases are:

  • Total Cholesterol (TC): 13% higher

  • LDL Cholesterol: 18% higher

  • Triglycerides (TAG): 39% higher

  • TAG:HDL Ratio: 45% higher

Even for individuals at high genetic risk, personalized nutrition can reduce the risk of dyslipidemia and improve their lipid profile.

The GENOSOPHY genetic test assesses the risk of lipid disorders using 2 Polygenic Risk Scores (PRS) and analyzes 14 genetic variants through its award-winning algorithm.

Conditions covered by the test

The test estimates the relative risk for lipid disorders in the general population and is recommended for:

  • Younger individuals who wish to evaluate their risk of elevated LDL cholesterol and triglycerides or low HDL cholesterol levels.

  • Individuals interested in adjusting their diet and lifestyle based on their genetic profile to reduce the risk of dyslipidemia.

Clinical Benefits of GENOSOPHY®’s PRS

  • Diagnosis: Identification of individuals with increased genetic risk for dyslipidemia.

  • Prognosis: Reliable risk prediction of elevated lipid levels, supporting personalized preventive strategies.

  • Management:

    • Personalized nutritional and lifestyle interventions to regulate blood lipid levels.

    • Selection of preventive strategies, especially for those with high genetic risk, following international clinical guidelines.

C) Genetic Testing for Thrombosis

Genetic Risk Assessment for Thrombosis

According to published studies (Table 1), individuals carrying pathogenic variants are up to 7.5 times more likely to develop thrombosis. In carriers of multiple variants, the risk is even higher.

GENOSOPHY’s genetic test assesses thrombosis risk by analyzing 11 variants with its award-winning algorithm, enabling personalized interventions to lower the risk or improve disease management.

Conditions covered by the test

This test estimates the relative risk of thrombosis in the general population and is recommended for:

  • Individuals with a family history of thromboembolic events

  • Women with a history of recurrent pregnancy loss

  • Individuals looking to tailor their lifestyle and treatment approach based on their genetic profile

Clinical Benefits of GENOSOPHY®’s PRS

  • Diagnosis:

    • Identification of individuals with increased genetic risk for thrombosis, allowing timely intervention and personalized medical monitoring

  • Prognosis:

    • Reliable risk prediction for venous and arterial thrombosis, supporting personalized preventive strategies

  • Management:

    • Design of personalized preventive strategies including tailored diet, anticoagulant use, and individualized monitoring

    • Selection of prevention strategies based on international clinical guidelines, especially for high-risk individuals

Genes analyzed:

Gene Polymorphism Effect Association References
MTHFR C677T Increased risk of thrombosis and pregnancy loss Thrombosis, Pregnancy Loss PMID: 29212064, 9669991
MTHFR A1298C Increased risk of thrombosis and pregnancy loss Thrombosis, Pregnancy Loss PMID: 29212064, 9669991
Factor II G20210A 7.5x higher risk of thrombosis during pregnancy Thrombosis, Pregnancy Loss PMID: 10666427
Factor V Leiden G1691A 3x risk (heterozygous), 18x (homozygous) Thrombosis, Pregnancy Loss PMID: 14996674
Factor XIII V34L Protective effect against thrombosis Thrombosis, Pregnancy Loss PMID: 16740590, 16938111
PAI-1 4G/4G Increased plasminogen levels, increased risk Thrombosis, Pregnancy Loss PMID: 11091191, 25250948
FGB -455G>A Elevated fibrinogen levels Stroke, Heart Attack, Pregnancy Loss PMID: 3626001, 23926530
ApoE E4 Associated with venous thrombosis in women Thrombosis, Pregnancy Loss PMID: 22006422, 24221911
ACE DEL/DEL Increased risk of thrombosis and pregnancy loss Thrombosis, Pregnancy Loss PMID: 12864773, 11085286
GPIa C807T Increased platelet aggregation Thrombosis, Stroke, Heart Attack PMID: 16214444, 11703818
GPIIIa PIA2 Increased platelet aggregation, reduced response to antithrombotics Thrombosis, Heart Attack PMID: 8598867, 11723016

Test Process

  1. Collection of a saliva sample

  2. Analysis of 56 genetic variants and calculation of relative risks using GENOSOPHY®’s award-winning algorithm

  3. Delivery of results in 5–6 weeks

Additional Services

Based on genetic test results and each individual’s genetic profile, GENOSOPHY® offers additional services to maximize the effectiveness of preventive interventions:

  • Genetic counseling

  • Personalized diet plans based on genetic profile

  • Nutritional consulting

Selected References:

  • Khera et al., N Engl J Med 2016;375:2349-2358 / DOI: 10.1056/NEJMoa160508

  • Wuni et al., Br J Nutr 2024;132(5):575-589 / DOI: 10.1017/S0007114524001594

  • Park et al., Nutrients 2020;12(12):3840 / DOI: 10.3390/nu12123840

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