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
• 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
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.