Pharmacogenetics Unit

The ISABIAL Pharmacogenetics Platform makes its expertise and specialized knowledge available to the medical and scientific community, both within the institution and to other public or private organizations. It provides technical and scientific support for the development of studies on genetic markers associated with the response to pharmacological treatments, contributing to the advancement of personalized or precision medicine strategies.

Determination of polymorphisms using RT‑PCR techniques

In the Pharmacogenetics Unit, single nucleotide polymorphisms (SNPs) validated by the FDA and EMA are analyzed, some of which are also included in the drug label. SNPs proposed in scientific publications or listed in specialized databases such as PharmGKB are also incorporated upon request.

Molecular analysis techniques

In addition to offering predefined SNP panels in genes involved in the pharmacokinetics (metabolism and transport) and pharmacodynamics of analgesic and psychotropic drugs (see Annex I), the Pharmacogenetics Unit incorporates a range of molecular techniques, including:

• Extraction, purification, and quantification of DNA, essential to ensure the quality of the genetic material analyzed.
• Analysis of copy number variations (CNVs) by qPCR in selected genes, enabling the detection of duplications or deletions that may significantly affect the response to certain treatments.

In addition, it offers predefined SNP panels in genes involved in the pharmacokinetics (metabolism and transport) and pharmacodynamics of analgesic and psychotropic drugs (see Annex I).

Advisory support for the design of customized arrays with polymorphism assays

The unit also provides specialized support for the design of customized SNP and gene arrays, tailored to any area of biomedicine and ideal for clinical or translational research studies. We design prospective or retrospective studies focused on specific pathologies, genes, drugs, or mechanisms of action.
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Estimation of the metabolizer phenotype based on the CYP2D6 genotype

One of the most requested services is the analysis of the CYP2D6 gene, which plays a key role in the metabolism of numerous drugs. Through genetic testing, we can classify each patient according to their metabolizing capacity: poor, intermediate, normal, or ultrarapid. This information is essential for dose adjustment, prevention of adverse effects, and optimization of treatments in an individualized manner (see Annex II).

Study of circadian sleep rhythm, including genotyping of clock genes

In addition, we perform a comprehensive analysis of the circadian sleep rhythm, combining different diagnostic tools, including:

• Ambulatory monitoring of biological rhythms
• Measurement of biomarkers such as cortisol, melatonin, and α-amylase
• Genotyping of clock genes involved in the regulation of sleep and neurological development

These studies are particularly useful for understanding and managing sleep disorders, insomnia, or circadian rhythm disturbances, as they allow the identification of both hormonal and genetic imbalances.

Epigenetic analysis through microRNA profiling

We explore epigenetic mechanisms, particularly the role of microRNAs—small non‑coding RNA molecules that regulate gene expression without altering the DNA sequence. Their influence is decisive in a wide range of physiological and pathological processes, opening new avenues for biomedical research and the development of personalized treatments.

Issuance of a pharmacogenetic results report

As part of the services offered by the unit, a comprehensive pharmacogenetic report is provided, designed to support clinical decision‑making and enhance the personalization of medical treatment. This report includes:

• The patient’s genotypic results, detailing the genes and SNPs analyzed, along with the genetic variants identified and their frequencies in the general population.
• Biological interpretation of the detected variants, explaining their functional relevance and how they may influence the response to specific drugs.
• Personalized pharmacological recommendations, providing guidance on the most appropriate treatment and potential dose adjustments, based on the most up‑to‑date scientific evidence.
• Additional information on complementary services available at the Dr. Balmis General University Hospital in Alicante, which may provide relevant data or clinical support depending on the patient’s genetic profile.

This report is a key tool for optimizing the efficacy and safety of treatments, integrating genetics, clinical evidence, and the available healthcare resources.

Consultation services are also available for assistance with the interpretation of results.

The Pharmacogenetics Unit is equipped with advanced technology for genetic analysis, including the Rotor‑Gene Q Real‑Time PCR system (Qiagen), the Applied Biosystems 7500, and the QuantStudio 12K Flex. These platforms enable DNA amplification and simultaneous allele detection through allelic discrimination techniques, with the capacity to process between 72 and 96 samples per run.

Specific TaqMan® MGB probes are used, and all necessary materials (molds, plates, reagents, and gels) are available for performing electrophoresis. In addition, customized SNP plates for array‑based analysis, provided by ThermoFisher, are employed.

In addition, the ISABIAL Research Support Laboratory (LAI) complements this technical capacity with a comprehensive infrastructure that includes:

• Dedicated rooms and benches specifically designed for molecular work.
• Freezers at different temperatures for the safe storage of biological samples (blood, pellets, saliva, DNA, among others).
• General laboratory equipment.
• Computer equipment (laptops and desktop computers) for the recording, analysis, and issuance of results.

All of this ensures a highly controlled and efficient working environment for carrying out high‑precision pharmacogenetic studies.

Pharmacogenetics Unit ISABIAL – Fees