Genomic Medicine 2018-02-24T11:40:24+00:00

Genomic Medicine

“The study and analysis of the genome involves the complete or partial sequencing of the exome to determine the genetic risk for any disease”

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Advances in genetics

Advances in genetics, initially for cancer but now for multiple conditions, have given way to an expansion of knowledge while greatly reducing the costs associated with technologies whose use was limited to research due to their technical complexity. One of the best examples is the advance in genetic sequencing.

Study and analysis of the genome

The study and analysis of the genome involves its complete or partial sequencing (which we call an exome) to determine the genetic risk of any disease discovered to date, as well as its subsequent analysis and interpretation according to the patient’s personal and familial clinical history, and their storage and preservation.


In Mederyx we understand the advantages and the repercussions that these advances mean for society, as genetic databases have expanded exponentially, and progress in bioinformatics already allows the comparison between the genome and other biomedical parameters of different individuals to analyse variations linked to specific diseases or risk factors -as well as protective factors-, and individual responses to drugs depending on the genetic profile.

Exome profile

The genome is 100% of the sequence of an individual’s genetic material, a molecule that makes us who we are. In that molecule, there are regions with information and regions without information (or information not yet known) and it is made of more than 3.2 billion nucleotides (letters: A, G, C, and T). Only 2% of the genome is DNA with information (EXOME). That information in turn, is structured into units called genes that will eventually give rise to a protein.

Sequencing allows us to decipher all nucleotides in a person’s DNA. After comparing this information with a control exome from a healthy person (reference) we are able to identify our patient’s variations or mutations.
Nowadays we know that many diseases have a very important genetic component and science allows us to learn more every day. In cases like these, the analysis of the gene or the specific set of genes allows us to diagnose the disease. Sequencing of complete exomes and/or genomes has become established as the best tool for the identification of new mutations responsible for disease development, improving the capacity of genetic diagnostics and the understanding of related biological processes. Genetic diagnostic tests provide among other functions, the confirmation of a clinical diagnosis in patients for which the symptoms suggest a hereditary condition.

What makes possible the sequencing of the exoma?

Complete exome sequencing will allow us to study the disease that interests us presently along with all the genes involved in it, but in turn will also allow us to study ANY disease with a genetic component known today. Since the exome does not change throughout our lives, in the future it would be possible to study genetic diseases that are still to be discovered.
Depending on the results from the genetic study we can determine the most effective type of treatment against the pathology. The variation responsible for the hereditary disease can determine the severity and/or evolution of the pathology.

The form of transmission for this variation (Dominant / Recessive) will determine the chances of offspring inheriting the disease.

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Genetic Panels

Bespoke oncological genetic tests

At Mederyx, we offer a tailored oncology genetic service to detect those disorders associated with the presence or susceptibility to certain types of cancer. By using advanced technologies such as genetic panels (microarrays) and massive sequencing, all under a comprehensive bioinformatic analysis, we guarantee an optimal and reliable result in the oncological diagnosis.

A genetic panel allows us to detect mutations in several genes at a time, reducing the waiting period for results.

We can detect possible abnormalities by exploring the genes

Using specialized genetic panels, we can detect possible abnormalities by exploring the genes most linked to certain types of cancer such as:

  • Breast Cancer
  • Cervical Cancer
  • Lung Cancer
  • Colon Cancer
  • Gastric/Esophageal Cancer
  • Liver Oncohematology
  • Skin cancer
  • Prostate Cancer
  • Urinary tract Cancer
  • We can perform tests for any other hereditary cancers
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Cardiac Genetic Tests

Nowadays we have a better understanding of the genetic basis for certain hereditary and potentially life-threatening cardiac cardiomyopathies, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), right ventricular arrhythmogenic dysplasia, long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada Syndrome (SB).

Scientific advances have allowed the development of cardiological panels for a correct genetic diagnosis of hereditary heart channelopathies.

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We offer our patients a complete catalogue:

  • Genetic Diagnosis by massive sequencing

  • Genetic panels

  • Genetic Reproductive Diagnosis

  • Pharmacogenetics

  • Nutrigenomics

Advantages and disadvantages of the Genetic Panel vs Exoma Study

In the genetic panel we study chosen genes, genes that we already know can cause a disease if mutated. The study of the exome allows us to determine which mutations are detected in the entire genome, in all genes, regardless of whether they are related to the disease or not.

The exome can be re-analysed as the scientific community discovers new genes related to various pathologies.

The study of the exome is extremely interesting when the gene that causes a disease is not known, either because all known genes have been studied and no mutation has been detected or because we are facing a new clinical case.


The microbiome

The human body is an ecosystem of microorganisms we call the microbiome which contains about one trillion microorganisms with a genetic load 100 times greater than the complete human genome.

The microbiome is responsible for processing much of our food in the intestine, producing fatty acids and vitamins that we cannot synthesize and even fighting against other organisms that try to infect us. An imbalanced microbiome is the cause of many of the diseases that affect us.

The study of the microbiome

The study of the microbiome found in the gut flora proves the importance of the analysis of the millions of bacteria that pervade our gut, as it is increasingly evident that there is a relation between certain metabolic diseases and processes related to an exaggerated or anomalous immune response, such as autoimmune diseases and allergies.

Sequencing techniques

Using massive sequencing techniques, it is possible to identify microorganisms associated with different types of cancer. Biopsies of tumours and polyps can hold a distinct microbiota from those located in healthy areas, which is very promising for the use of the microbial community as biomarkers of cancer prior to the appearance of clinical signs.

Microbioma is related to cavities or obesity

Several recent studies suggest that the microbiome in our teeth is the culprit when we have propensity to suffer tooth decay. Recent studies have linked the intestinal microbiota with obesity, given that the microbiome encodes numerous metabolic functions that are unique and cannot be performed by
ourselves, such as the processing of the indigestible components of the diet and plant polysaccharides.

Genetic Counselling

At Mederyx we integrate genetic analysis with the clinical and personal history of each patient, we put our genetic counselling office at your disposal, offering information and assistance to families affected by a genetic disorder or at risk of developing one.

At Mederyx, we offer genetic counselling to both patients and other professionals about the genetic causes of pathology, hereditary studies, the probability of recurrence … During the process of genetic counselling, we ensure that the patient and/or family knows and understands the diagnosis made, its prognosis and the treatment if there is one. That’s why we will offer and study all available alternatives to reduce or eliminate the risk of recurrence of the disease.

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