From a health point of view, the success of a preventive measure depends both on the knowledge of the risk factors and on the impact that the modification of these factors might have upon health.
The sequencing of the human genome has caused a radical change in the field of diagnosis since it has helped optimizing and accelerating the association of genetic variations to the risk of certain conditions, and to the response to their pharmacological treatment. One of the main advantages associated with the knowledge obtained from the analysis of the human genome is to find out about the existence of genes associated with impaired function of a given system.
Interaction between genes are predetermined by the genotype and associated with an individual risk or susceptibility. In the case of multifactorial processes, it is especially important to know which role other nongenetic risk factors with either negative (e.g. bad lifestyle habits) or a positive effects (e.g. the improvement of such habits) might have. Non-genetic risk factors are actionable. These are the ones, which fine-tune the balance in one way or the other, modulating the phenotype or clinical picture and ultimately determining our higher or lower life expectancy.
Main Preventative Medicine’s objectives of a genetic analysis are to promote the health and well-being of an individual. This is made possible thanks to the ability to detect a susceptibility to a defined pathology earlier, which might result in the possible introduction or reinforcement of preventative measures and an improvement in the quality of life. Such information might not only benefit to the individual examined, but also help prevention in the future generation due to the inheritability of this genetic information.
The ArterioCheckUp-Test is a genetic analysis, which evaluates the predisposition of a person for different complex diseases. The method is based on a custom array. The test is designed for the detection and genotyping of 14 variants (mainly single nucleotide polymorphisms – SNPs) in 12 genes related to complex and multifactorial pathologies of the cardiovascular system.
One of the main advantages of this analysis is to detect earlier the predisposition of an individual for a particular disorder or group of disorders. At the same time, the test provides a scientific and objective basis for the treatment, which is no longer empirical and general, but evidence-based and supported by clinical studies.
It has to be pointed out that results from this genetic analysis do not necessarily mean that the person will develop the disease for which he/she is at risk. However, the results will show if a person has an increased risk for a certain disease and how high the risk is. Thereby individual control and preventive measures can be established. Herein lies the particular significance of a genetic analysis: The analysis allows to anticipate the diagnosis (and in every single case collect clinical data), and to take action more rapidly and efficiently in fact in a phase where no symptoms are present yet. The information contained in constitutional DNA does not change over time, which is an advantage in comparison to the associated biochemical and physiological parameters.
The test results are summarized in tables. Corresponding to the results of the genotyping, it will be differentiated between:
- Low genetic risk: No genetic variants were detected in the analyzed genes, which might be significant for the development of the disease in question.
- Medium genetic risk: One genetic variant was detected in the analyzed genes, which does not have a high clinical significance. Therefore a regular observation as well as the adaption of lifestyle habits, which can have a negative potentiating effect, is recommended. The preventive measures should be carefully designed and monitored.
- High genetic risk: One or several genetic variants were detected in the analyzed genes, which are associated with an increased risk for the corresponding disease. In consideration of the existing genetic variant and of the effect of the classical risk factors, a prevention plan should be developed by the medical specialist.
Based on the results from each table general recommendations can be given. In case of low genetic risk no general recommendation is given, though the risk can be influenced by other genes, synergistic or antagonistic effects. The effect is based on the balance between these factors, other risk factors and specific environmental factors, which are applicable in this specific case. The final recommendation is given by the attending physician, which consults not only the genetic risk assessment, but also the pathological and familial background of the family, as well as the influence of lifestyle habits. Next to the general recommendation, certain specific recommendations are given for specific genotypes.