The genomic medicine is a branch of genetics that is dedicated to the study and analysis of genomes that make up living things. This science is possible thanks to the advances that have been experienced in the area of genetics.
The discovery by Fred Sanger of the technique for DNA sequencing was a key factor in the advancement of the discipline and opened the way to the study of genomes. Notably, prior to Sanger's discovery, a lot of scientific research was conducted that also contributed to the advancement of genetics.
Source: pixabay.com
Advances in medicine have been achieved thanks to multiple investigations in the area of genetics.
The term genomic medicine was first coined in 1986 by Professor Thomas Roderick, who used it to refer to the branch of genetics that encompasses the study of the structure of genomes.
That is to say, it is the discipline whose object of study is focused on the sequencing of the genome, as well as its functions. All the contributions that were obtained as a result of various studies contributed to the evolution of the discipline.
Genomic medicine plays a fundamental role in the conservation and restoration of the health of individuals.
On the one hand, it presents the possibilities of diagnosing some pathologies in early stages, as well as of predicting an individual's predisposition to develop a certain disease. From this point of view, it contributes to preventive medicine and provides the possibility for people to adopt healthy lifestyles in order to avoid the appearance of diseases.
On the other hand, the knowledge around genetics allows personalized attention to be provided with a large percentage or total reduction of side effects.
History
Genomic medicine owes its emergence to scientific advances, specifically those related to genetics.
Technological advances, as well as the joint work of professionals from various disciplines, have made possible the important discoveries that have been made in this area.
The degree of importance lies broadly in the innumerable possibilities in the health area, which translates into a better quality of life for humanity, as well as the improvement of preventive medicine, among other areas.
The term genomic medicine arose with the purpose of delimiting, as it were, the branch of genetics, whose object of study encompasses the sequence of genomes.
It was Professor Thomas Roderick who in 1986 gave the name to the part of medicine that deals with the study of the behavior, characteristics and functions of genomes in the body.
However, this is the result of many investigations that were carried out by various scientists in order to discover the functioning of the organism from cells.
Background
The first evidence available for the discovery of DNA corresponds to the results of investigations carried out in 1871 by the Swiss physician Friedrich Miescher.
This scientist observed for the first time the presence of a substance he called nuclein, whose name was later replaced by Richard Altmann in 1889 by the term nucleic acid.
In turn, in 1904 Theodor Boveri and Walter Sutton exposed the chromosome theory of inheritance, by means of which they came to the conclusion that chromosomes occur in identical pairs, of which one comes from the father and the other from Mother.
Likewise, Albrecht Kossel found after his research the elements that make up the nucleotide, thanks to which he was awarded the Nobel Prize in Physiology or Medicine in 1910.
Other studies undertaken by Martha Chase and Alfred Hershey revealed in 1952 the role of DNA as a receptor for genetic traits. While, in 1953, the double helix structure of DNA was found by James Watson and Francis Crick.
However, the key discovery for the birth of genomics belongs to biochemist Fred Sanger for creating the first technique to sequence DNA.
His contributions in this area made it possible to read the first genome and laid the foundations for carrying out the human genome project.
This was a large-scale scientific study that was carried out in order to analyze the human genome in its entirety.
Object of study
Genomic medicine is a branch of genetics that is interested in the study of the genome in living beings.
Genome. Source: pixabay.com
The genome comprises all the genes of a given organism and the way in which they are distributed within cells. There are multiple genes that are present in each organism but it is a single genome.
One of the main objectives is to determine or discover the role of each of the genes within the body.
The main methodology used in genomics to determine the role of genes is the analysis of the sequences corresponding to each of them.
Likewise, it is inclined to understand each of the interactions between the various genes and the effects that are generated from this relationship.
The information obtained through genomic medicine aims to improve the diagnosis and treatment of various types of diseases.
Genomic medicine, through the use of knowledge in genetics, has set the main goal of perfecting treatments and discovering pathologies even before they appear.
Applications
Despite the fact that various investigations have been undertaken in this field, there is still a lack of knowledge to be obtained from genomes.
However, the evolution of this discipline has benefited in the improvement of the health of individuals. For example, one of the most relevant is related to the issuance of diagnoses.
The level of accuracy to which genetic knowledge allows us to reach helps doctors to make diagnoses through certain studies with a very small rate of error. The procedures open the possibility that the tendency to present certain pathologies can be predicted, which increases the scope of medical attention.
Genomic medicine helps the diagnosis, as well as the ruling out of diseases that come from the genetics of individuals, such as those of an infectious type or related to the presence of parasites.
As a discipline, it is an ally of preventive medicine in that it offers the possibility of determining the propensity for a person to develop a specific pathology throughout their life.
Vaccines have also been developed that help prevent the population from contracting diseases through the use of genetic information.
Contributions to curative medicine
Its field of action in curative medicine is relevant in view of the fact that through embryonic stem cells various functions can be successfully restored in the body.
With the use of stem cells, blood or hematological diseases have been successfully treated, as well as those that affect the immune system.
The scope of these treatments are really promising for humanity, since they allow to restore and regenerate even parts of the body such as tissues or bones.
While at the pharmacological level, genetics allows the development of drugs that adjust to the specific genetics of each person, whose manufacture is free of side effects for the body.
In the area of cosmetics, the results obtained after studies in genetics allow the development of products that do not cause deterioration in health and favor the hair as well as the skin.
Methodology
The advances experienced in medicine in recent times have their origin in the contribution of various sciences, including computer science. In the case of genomic medicine, it uses a methodology that revolves around genome analysis techniques.
It should be noted that this discipline adopts a method that is characterized by a study that initially covers the results that can be obtained at a general level and then is interested in the particular.
Thus, for the study of the genome, the observation starts from multiple genes that make up a given organism, from which a set of characteristics are extracted.
Subsequently, genomic medicine takes these results and subjects them to an exhaustive study in order to draw conclusions related to particular cases.
The analysis of the genomes can be carried out in a particular way or be destined to a specific population in order to define genetic markers that in some cases lead to determine the propensity to the appearance of a pathology.
The knowledge obtained from research is used in the diagnosis, detection and treatment of some diseases in an optimal way.
References
- Aleman, M, (2016). Genomic medicine, what it consists of and its applications. Taken from cefegen.es
- Genomic Medicine. Taken from dciencia.es
- Genomics. Taken from ecured.cu
- Garrigues, F, (2.017). The Age of Genomics. Genotype. Taken from genotipia.com
- Genomic personalized medicine. What is Genomic Medicine? Taken from Medicinapersonalizadagenomica.com
- Smith, Y. History of Genomics. News Medical. Taken from news-medical.net
- Smith, Y. Uses of genomics. Taken from news-medical.net