BIG date. Two English terms that tell how medical science is increasingly correlated with bioinformatics: by working on large databases it is possible to obtain information on the population, which then report to the individual. Thus, thanks to these tools, in the future it will be increasingly possible not only to choose the most suitable treatments based on the characteristics of the DNA, but also to study specific prevention paths for each subject, which obviously must start from correct lifestyles, because the predisposition “written” in the genes (unless it is true and proper pathologies linked to a single gene) is modified for better or worse by lifestyles.
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Already today, however, with a sort of “lollipop” passed in the mouth, it is possible to know if and to what extent the values of cholesterol Ldl, the one harmful to the arteries because it tends to retain fat inside the arteries, favoring the formation of atherosclerotic plaque, are combined with the genetic profile of the subject and therefore study “precision” preventive strategies to control the risk of heart attack in the individual individual. The validity of the medium is testified by a research published on Circulation, which defines the so-called “Polygenic Risk Score” (Prs in English). This test, which must be used by the physician, is available in primary cardiovascular prevention. In practice, associating the information on the patient’s genetic risk with his LDL cholesterol level makes it possible to identify people at greater cardiovascular risk who would otherwise be invisible to traditional risk models.
To understand better: there are subjects who, despite having values of Ldl acceptable, they may still have a greater predisposition to undergo a heart attack and on the contrary there are people who, despite having lipoprotein levels that shoot upwards (an element to be corrected always), have a lower risk of ischemia due to their ” genetic habitus ”. Thanks to the calculation of the Prs, the approach can be addressed, case by case, in the context of global cardiovascular risk. Suffice it to say that research shows that people with average LDL cholesterol levels (130-160 milligrams per deciliter) but with a high polygenic score have an equivalent risk of suffering from cardiovascular disease and heart attack compared to people with hypercholesterolemia but with a PRS of average value.
“An individual’s risk of having a heart attack or stroke is determined by the interaction of many elements, being multifactorial and polygenic – he explains Ciro Indolfi, President of the Italian Society of Cardiology. The results of this new cardiovascular polygenic risk score open interesting clinical perspectives, demonstrating that the cardiovascular risk of an individual depends on a correlation between LDL cholesterol and genetic risk “.
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The objective of the examination, which must always be managed by the doctor and possibly requested when necessary, is therefore the primary prevention of precision. With the test, thanks to the software developed by the Allelica start-up, it will be possible to better identify those who really need specific treatments to reduce LDL values. All, as he remembers Massimo Volpe, president of the Italian Society for Cardiovascular Prevention) knowing that “it is not enough to diagnose and treat individual risk factors, such as arterial hypertension, dyslipidemia, diabetes, but it is necessary to define the total cardiovascular risk profile in each individual and focus on of all the prevention strategies and interventions the reduction of this overall value, not of single elements such as the LDL cholesterol level “. The hope linked to the availability of the test, therefore, is to identify the subjects on which to act with greater incisiveness and efficiency. “In this context, it can be very useful to have a simple genetic test that refines the evaluation of cardiovascular risk in order to interpret the true meaning of the different cholesterol levels and better identify the individuals on which to focus preventive action – he points out Alessandro Boccanelli, President of the Italian Society of Geriatric Cardiology “.
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