SEQCML analysis of pharmacogenetics application in clinical laboratories

DIARIOFARMA | 04.05.2022 – 13:48

The administration of a pharmaceutical mass, and the recommended prescription dose, can produce the respective distinctions in the patients. In part, the expression of explicit genes and conditions are different in respect of the treated ones. Pharmacogenetics is the field of genetics that studies the response of certain genes and drugs to the end of which is the best therapeutic option for each patient.

The Spanish Society of Laboratory Medicine (SEQCML) is part of this ‘Pharmacogenetics and Clinical Cases’ course, in the brand of the SEQCML Academic virtualization project, to answer different questions related to your personal medicine. It is fashionable to present a series of clinical cases that reflect the experience of pharmacogenetics implantation and treat the results obtained by the DPYD study and the observed differences in different health services, among others.

In the words of Dra. María Santamaría González, President of the SEQCML Genetics Commission, the course of pharmacogenetics and clinical cases is guided by all the professionals who work in this field, all of which “are profiled by the fact that it is not necessary to organize a pharmacogenetics laboratory, the advances in molecular analysis techniques, as well as the requirements for implanting a caliper gestation system ”.

The course is divided into two major themes: pharmacogenetics and polymorphisms of the DPYD gene. One of the points to treat is the paper that is the genetics field in personalized medicine. Respectfully, the specialist stabilizes the discipline as “an example of personalized medicine in the medium in which, one connects the molecular bases implicated in the metabolism and action of the drugs and identifies the genes responsible for their respective differences, to predict a patient’s genetic donation function, the best therapeutic option ”.

To predict the patient’s response to a specific pharmacological treatment in function of its genotype that it contains a pharmacogenetic test. “Because, in the majority of cases, a number of important tasks prevail over the administration of the form,” said the president of the Genetics Commission of SEQCML. Explicitly, from a sample of the patient’s blood, “the laboratory performs genetic analysis with the available techniques and emits information with the variants detected in the studied genes and related to the treatment in question”.

“Pharmacogenetic studies allow you to optimize therapeutic strategy, suggest efficacy or minimize adverse effects, as long as you do not have pharmacogenetic probe at all treatments, not all laboratories are available at your own time. However, it is unprecedented to normalize and standardize its implementation, elaborating consensus between scientific societies and stabilizing strategies that are homogeneous in their application in clinical practice “, added.

María Santamaría González, currently living in a moment of technological revolution and informatics that favors the development and integration of pharmacogenetics in clinical practice. Según informa, “there are techniques that allow the simultaneous analysis of genes and variants of DNA and advanced bioinformatics that integrate all information. Among the methods available in the laboratory, the use of microarrays and tampering with capillary electrophoresis or mass spectrometry media measurement systems ”.

From a laboratory perspective, pharmacogenetics is a complex field that has led to the implementation of new products. First of all, you need an organizational structure with high professionalism of the laboratory professional. From the form that, according to the expert, “suppose to the faculty professional who should verify and validate the analysis techniques, optimize the response time and interpret the genetic information in the pharmacological context of each patient. Asymmetry, must be carried out a series of procedures before implanting a proper calibration system that proportion and guarantee the calidity of the results.

In this sense, Laboratory Medicine constitutes a “patient integrating element in patient attention” that connects pharmacogenetic and biochemical information with clinical and pharmacological data, followed by a multimodal diagnostic model.

The other subject of the course is inflated by the polymorphisms of the DPYD gene. What about polymorphisms? “Genetic variants that generate significant individual differences in population (> 1%) and can modify the expression and function of the enzymes and proteins involved in the metabolism and action of the formats,” he said. It is the case of the DPYD gene, which encodes the enzyme dihydropyrimidine dehydrogenase (DPD) implicated in the metabolism of fluoropyrimidines, antineoplastic drugs. According to the expert, “polymorphisms of this gene can generate an enzymatic deficiency and determine the media life of these drugs, their efficiency and toxicity”.

Fluoropyrimidines are contraindicated in patients with complete enzyme deficiency and should adjust the dose in appropriate cases with reduced activity. “The pharmacogenetic studies that include polymorphisms of the DPYD gene are fundamental to optimizing therapeutic strategy in these patients,” said Dra. Santamaría.

Finally, the SEQCML course presents a series of clinical cases that reflect the experience of implantation of pharmacogenetics, the results obtained from the study of the DPYD gene and the observed differences in different health services. “With the exposition and discussion of clinical cases, these are given to the main polymorphisms studied in the DPYD gene and profound in genetic intolerance to fluoropyrimidines,” the specialist informed.


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