What is genomic medicine?

6 October, 2022

Genomic medicine allows us to use the information available in the genes to obtain results that allow to treat diseases.

The spectacular advances made in understanding the human genome and in the applied technology, will allow the widespread implementation of genomic medicine or precision medicine in a few years. This discipline, which consists in the use of individuals’ genetic information for clinical decision-making, comprises two branches: diagnostic and therapeutic.

Genetic diagnosis determines the presence of mutations or variations in the DNA associated with the development of certain diseases or with the risk of suffering them. The latter would be the case of the study of a variant or polymorphism of the PNPLA3 gene, which is associated with the risk of developing aggressive liver disease due to accumulation of fat in the liver. Knowing these genetic alterations allows the doctor to decide on the frequency of check-ups and to implement preventive measures or treatments, while the patient can modify her/his lifestyle to minimize this risk. In the field of oncology, genetic diagnosis is becoming an essential tool because it helps to select the most effective therapy and makes it possible to predict who can benefit from a certain treatment and who cannot.

This is how genomic medicine works

Genomic therapy introduces genetic material into a patient’s cells to correct specific genetic defects, boost the immune system, and as a treatment or vaccine against infectious diseases. The methodology used in these therapies is diverse and some of them are already approved for the treatment of certain diseases. Modified viruses can be used to introduce a specific gene or messenger RNA can be delivered into cells to produce a desired protein. Both strategies have been used for vaccines against COVID-19.

Other technologies are antisense oligonucleotides and interfering RNAs, which are designed to bind to a specific messenger RNA and thus block or decrease the production of a protein or enzyme that is harmful. Finally, one of the most promising strategies is known as “genomic editing” which is performed directly on the patient’s cells and permanently corrects the genetic information associated with a disease. This is achieved using CRISPR-Cas9 technology that targets the area of ​​the gene that we want to modify, cuts that DNA sequence, and inserts new DNA with the correct information.

In summary, some therapies based on gene technology are already available for certain diseases. The multiple clinical trials that are being carried out for the treatment of numerous pathologies using all this new methodology will lead in the coming years to a revolution in clinical medicine with a notable improvement in people’s lives.

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