Genetic vulnerability

Genetic vulnerability *

Genetic vulnerability measures the impact of genetics of an individual on a given phenotype. The phenotype is known as the visible expression or manifestation of the genotype (information represented in the DNA) which can be determined, to a greater or lesser extent, by the environment and lifestyle of the individual. Through the analysis of different single nucleotide polymorphisms (known as SNPs) and by applying the polygenic risk score methodology, it is possible to estimate the genetic vulnerability to developing a health condition or complex trait.

Pharmacogenetics **

The pharmacogenetics is the biological discipline that studies the effect of an individual's genetic variability on their response to certain drugs. It offers the possibility of identifying the most effective drugs, applying a better dosage of them and their optimal concentrations, avoiding undesirable side effects according to each individual's genetic pattern. This will allow distancing oneself from empiricism at the time of prescription, substantially reducing the need for hospitalization and associated costs. When an active ingredient is administered, it is absorbed and distributed to its site of action where it interacts with its substrate (receptors and enzymes), is metabolized, and then excreted. At each of these steps, there could be a genetic variation with a different clinical outcome. The ultimate goal is to unravel the growing complexity of the human genome and achieve an understanding of it in order to understand how individual genetic variations influence drug metabolism, representing a challenge for the coming decades and a priority due to its significant implication in clinical practice.

Genetic vulnerability *

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Genetic vulnerability *

Pharmacogenetics **

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