About this test
A personalized predictive genetic test assesses the lifetime risk of developing certain cardiovascular diseases, such as hypercholesterolemia (high cholesterol), high blood pressure (hypertension), coronary artery disease (CAD), and atrial fibrillation. High amounts of “bad” (LDL) cholesterol may cause a build-up of plaques in the arteries of the heart, leading to their narrowing and struggle to supply the heart with enough blood, oxygen, and nutrients. This can cause shortness of breath and chest pain (angina), and if untreated can ultimately lead to a heart attack. Narrowed heart arteries, together with alcohol consumption and tobacco smoking, amongst others, can also lead to arrhythmias, where the heart beats irregularly. Click here to learn more about Polygenic Risk Scores.
The Process: from purchase to results
Once you purchase your test kit, you will receive an email with a link to provide your consent to testing and fill in a lifestyle questionnaire (the PRS form).
Kindly note that if the questionnaire is not filled out, your sample will still be analyzed, however, we will not be able to provide you with any personal lifestyle advice.
You will also receive a sampling kit which is to be shipped to our laboratory using the provided DHL bag.
All notifications and correspondence will be made by email.
Frequently Asked Questions
You should choose this test if you are healthy and would like to estimate your genetic risk for cardiovascular diseases, such as coronary artery disease, hypertension (high blood pressure), and high cholesterol levels, and receive personalized advice to mitigate this risk by modifying your lifestyle.
This test should only be performed on consenting adults and is not intended to be used, and has no utility, to assess risk in any of the following situations: children under the age of 18; in vitro fertilization-embryo selection; carrier screening for family planning.
- Personal data, including genetic (biological) sex, ethnicity, and date of birth, will be collected to calculate sex- and ethnicity-specific risk factors and select the best age-matched population to use as a reference for the PRS calculations.
- Diet & lifestyle data will be collected to estimate further risks based on these factors, all of which may have an impact on your lifetime risk of developing these conditions.
- Other personal and family medical history related to cardiovascular disease will be collected to estimate additional risks and provide you with tailor-made advice.
N.B. Parts of the questionnaire have been derived from the Heart Disease Risk Calculator created by Mayo Foundation for Medical Education and Research using content from Framingham Heart Study Cardiovascular Disease 10-Year BMI-Based Risk Score Calculator, Framingham Heart Study General Cardiovascular Disease 30-Year Lipid-Based and BMI-Based Calculators, and ACC/AHA Pooled Cohort Equations CV Risk Calculator.
- The “Results & Interpretation” sections will contain your polygenic risk score as a numerical result, together with its translation into relative risk, e.g. Your risk of developing high blood pressure is 1.9 x that of the general population
- The “Recommendations” section will contain lifestyle advice tailor made to you, based on the lifestyle factors from the questionnaire and the PRS result.
Common genetic variants called SNPs found in your DNA, that is extracted from your buccal sample, will be compared to the SNPs in the general population, by means of specialized software developed by our partners, Allelica, Inc., to generate the polygenic risk score.
The polygenic risk score is expressed as standard deviations from the average PRS (z-score), so a PRS value of 1.3 means that the individual’s PRS is 1.3 standard deviations higher than the average person, who would get a PRS score of 0. The risk calculations are based on a hazard ratio per standard deviation (HRsd) estimate derived from a Cox proportional hazards model estimated from international biobank data.
To arrive at the relative fold-change risk (i.e. X x risk in the general population), we first calculate the absolute risk for the patient and a person with the average PRS of the same age and nationality. This calculation incorporates country-specific background information – age-specific all-cause mortality (i.e. death by any other cause than the condition), the incidence of the condition, and the mortality from the condition. These risks are integrated over a 10-year time horizon into 10-year absolute risk estimates using the methods of survival analysis. For more information about this, see Choudhury et al. (Pal Choudhury P, Maas P, Wilcox A, Wheeler W, Brook M, Check D, et al. PloS one. 2020;15(2):e0228198). Finally, the ratio of these two absolute risks (risk for the patient/risk for an average person of the same age and nationality) is given as the relative risk.
- PRS scores are not intended for the diagnosis of any disease or health condition. An elevated risk estimated by the PRS does not mean that the individual will develop the condition during their lifetime, and a moderate or low-risk score does not mean that the individual will not develop the condition. Depending on the condition, the PRS analyses take into account a range of tens to millions of common genetic variants that have been robustly associated with the disease of interest. However, there may still be additional, as yet unidentified, genetic variants involved in genetic risk. In addition, this test does not take into account either known or unknown pathogenic or likely pathogenic variants in known disease susceptibility genes. These may be present but unidentified and may additionally contribute to an individual’s genetic risk of developing a disease.
- These PRS tests are based on up-to-date scientific data. However, the field is constantly evolving, and the estimated risk, together with subsequent clinical recommendations, may change as additional information becomes available. Also, different PRS models may give different estimates of risk for the same trait due to different genetic variants assessed and their weights on the estimation.
- This test should only be performed on consenting adults and is not intended to be used, and has no utility, to assess risk in any of the following situations: children under the age of 18; in vitro fertilization-embryo selection; carrier screening for family planning.
The test is currently only available for those living in the EU.