Genomics in heatlh

What is the genome?

The complete set of DNA of an organism is called a genome. Each cell in the body usually has a copy of the genome. The human genome is 3 billion base pairs (or letters) of DNA, it is divided into 23 pairs of chromosomes and is located in the nucleus of the cells. The genome works like an instruction book, through which proteins are manufactured, and these proteins perform different functions such as forming organs, tissues, chemical reactions, etc. After all, it is the genome that determines whether a cell divides, differentiates in a cell from a particular tissue, or dies.

What is genomics?

Genomics is the interdisciplinary field that consists in the study of the complete genome of an organism. To accomplish this, DNA sequencing technologies and various computer tools are used to sequence, assemble and analyze the structure and function of the genome. It is also looking forward to relate sequence to function, which also includes interaction between different genes with each other. Through the generation of more and more genomic information in the world, new functions and interactions are discovered, and their correlation with diseases and other conditions. Likewise, the field is opening up to the possibility of editing the patient’s genome through CRISPR technology, however it is only in the investigative phase and it will still take a few years to be part of the day-to-day medicine.

How does genomics influence oncology?

Cancer is a disease, or rather a set of diseases, of genetic origin, which are characterized by having an altered and atypical division of cells; and which in turn can expand or invade other tissues.

Usually the cells divide to form new cells in a controlled way. This is how our body grows and is repaired. Each time the cell divide a new copy of the genome is generated, and each copy can generate errors, which are known as mutations. Most of the time these errors are repaired, but sometimes they can remain and accumulate. Mutations in key genes can lead to an uncontrolled division of cells, forming a cell mass that can become a tumor. In the case of blood cancer, as is the case of leukemia, there is no tumor formation. It can also be a benign tumor, in which it is not classified as a carcinogen. The difference is that the benign tumor does not expand or invade other tissues.

Through genomics, cancer-related mutations can be analyzed, which opens doors in screening, diagnosis, personalized treatments and in the calculation of risk.

Why genomics is important in health?

Sequencing technologies are becoming increasingly accessible; and information on the meaning that mutations can have in different pathologies, especially in oncology, is increasing. Therefore genomics can determine risk to certain diseases, sensitivity to medications, prognosis of disease progression, etc. More and more this information is being used as a tool for the doctor when making decisions; so in the future the treatments will be tailored to the patient and his genome.