In the last 2-3 years, several large genetic studies have reported the identification of many new genes involved in determining risk of Heart Disease.  To date, common “variants” in over 20 Heart Disease Risk genes have been identified and their effect on risk confirmed using a statistically robust “meta-analysis” approach, often in combined samples of more than 20,000 patients, giving good confidence to their impact on risk. Interestingly, while some of these variants are having their effect on risk by influencing the levels of classical CHD risk factor traits such as lipids of blood pressure, for most of these genes the mechanism of risk is not yet understood. The key fact is that, individually, all of these risk effects are relatively modest, increasing risk in an individual by 20%-40%, but in combination, their additive effects are high and clinically important, and may reach 2 fold or greater. To put this into context, this is as large an effect as being a current smoker. The Genetic Profile Test therefore combines information from these more than 20 variants to give an overall risk score. This is only of value in the context of knowing an individual’s other heart disease risk factors such as age, gender, blood pressure, weight, and lipid levels. These well-known risk factors are used to estimate the individuals risk by putting the values into a risk calculator, often called the “Framingham algorithm“, and this is then added with the genetic risk to obtain an overall score. This information is then used by the consultant physician, in discussion with the subject, to decide on how best to manage future risk. This may be by life style changes such as weight loss and smoking cessation, or by offering drug therapy such as lipid- or blood pressure lowering medication, or most often a combination of all approaches. Background © StoreGene, 2011