DNA is a complex molecule that contains the necessary information for the development and maintenance of living organisms. It is also responsible for the transfer of hereditary data. All living organisms are made up of cells and each of our cells contains the same complement of DNA in their nuclei (genome).
DNA is a complex molecule that contains the necessary information for the development and maintenance of living organisms. It is also responsible for the transfer of hereditary data. All living organisms are made up of cells and each of our cells contains the same complement of DNA in their nuclei (genome).
The DNA molecule is comprised of four chemical units called “nucleotides”, which are interconnected to form a large chain. These four nucleotides are symbolised by the letters A,G,C,T, which represent the 4 bases: adenine, guanine, cytosine and thymine. These bases always appear in the same pattern, namely C with G and A with T.
The size of an organism’s genome is generally considered as the total number of nucleotides in a “representative copy” of its nuclear DNA. A “representative copy” of the human genome is the size of ~3 billion bases, whereas the real genome of an individual is the size of ~6 billion bases.
The order of the human genome bases in the DNA molecule is called DNA sequencing. These are the genetic instructions required for the development and management of each organism’s activities.
DNA segments that carry the necessary information for the synthesis of proteins are called genes.
DNA segments that carry the necessary information for protein synthesis are called genes.
Human beings have 46 chromosomes in a typical body cell (somatic cell), which are organised into 23 pairs. Each pair of chromosomes is comprised of a chromosome inherited from each parent. Reproductive cells (eggs and sperm) only have 23 chromosomes. When they merge, their genetic material combines to reform a complete set of 46 chromosomes.
Precision medicine or genomic medicine aims to provide safer and more efficient medical care for patients based on genomic biomarkers/genetics for the diagnosis, prognosis and treatment of illnesses.
Sequencing a DNA molecule involves determining the order arrangement of the four nucleotides (A,G,C and T) that form the molecule.
The entire sequencing of the first human genome was achieved in 2003 after 12 years of scientific work by hundreds of researchers from all over the world and an approximate cost of 3,000 million dollars. Just 15 years later, and thanks to the notable advances in sequencing technologies (next-generation sequencing technology-NGS), both time and cost radically reduced, and the entire human genome can now be sequenced within days at much cheaper prices.
The dramatic reduction in costs associated with sequencing has meant the introduction of these sequencing technologies has not only been possible in research projects, but also in clinical practice. The usefulness of NGS technologies lies in its ability to identify differences (“genetic variants”) between the genome of a sequenced (individual) sample and the sequencing of a reference human genome.
Even though the number of variants obtained when analysing an entire human genome is enormous and that today only the significance of a small part of this variability is known, it is possible to sequence the entire genome of an individual (whole genome sequencing-WGS) and identify genetic variants, which are associated with the risk of developing diseases, genetic variants that may influence the metabolism of drugs or those known to be associated with weight and metabolism among others.
It is important to emphasise that, in general, not all potentially identified variants have the same implication and relevance for the health of an individual. Predicting the consequences of the genetic variants found requires a comprehensive analysis of the genomic and physiological context specific to each case.
In the future, it is certainly possible to foresee that whole genome sequencing will be present in all areas of healthcare and that the interpretation of the results will remain the main challenge both scientifically and translationally.
In the last decade, the use of biotechnology has enabled significant advances in the areas of diagnosis, prognosis and treatment of illnesses.
As the extent of genome sequencing increases and more links are made between genetic variations and the risks of developing diseases, or the responses to a pharmacological treatment, scientific knowledge is also increasing. Along with the identification of genetic biomarkers related with the predisposition to illnesses, diagnosis of illnesses from base genetics and prediction of responses to a drug etc.
The implementation of precision or genomic medicine signifies “a revolution” that will change the care paradigm. It will make it possible to offer a real response to the individual health requirements of each patient by means of a profound knowledge of biology of the disease and the implementation of personalised health strategies.
Precision medicine or genomic medicine aims to provide safer and more efficient medical care for patients based on genomic biomarkers/genetics for the diagnosis, prognosis and treatment of illnesses.
Sequencing a DNA molecule involves determining the order arrangement of the four nucleotides (A,G,C and T) that form the molecule.
The entire sequencing of the first human genome was achieved in 2003 after 12 years of scientific work by hundreds of researchers from all over the world and an approximate cost of 3,000 million dollars. Just 15 years later, and thanks to the notable advances in sequencing technologies (next-generation sequencing technology-NGS), both time and cost radically reduced, and the entire human genome can now be sequenced within days at much cheaper prices.
The dramatic reduction in costs associated with sequencing has meant the introduction of these sequencing technologies has not only been possible in research projects, but also in clinical practice. The usefulness of NGS technologies lies in its ability to identify differences (“genetic variants”) between the genome of a sequenced (individual) sample and the sequencing of a reference human genome.
Even though the number of variants obtained when analysing an entire human genome is enormous and that today only the significance of a small part of this variability is known, it is possible to sequence the entire genome of an individual (whole genome sequencing-WGS) and identify genetic variants, which are associated with the risk of developing diseases, genetic variants that may influence the metabolism of drugs or those known to be associated with weight and metabolism among others.
It is important to emphasise that, in general, not all potentially identified variants have the same implication and relevance for the health of an individual. Predicting the consequences of the genetic variants found requires a comprehensive analysis of the genomic and physiological context specific to each case.
In the future, it is certainly possible to foresee that whole genome sequencing will be present in all areas of healthcare and that the interpretation of the results will remain the main challenge both scientifically and translationally.
In the last decade, the use of biotechnology has enabled significant advances in the areas of diagnosis, prognosis and treatment of illnesses.
As the extent of genome sequencing increases and more links are made between genetic variations and the risks of developing diseases, or the responses to a pharmacological treatment, scientific knowledge is also increasing. Along with the identification of genetic biomarkers related with the predisposition to illnesses, diagnosis of illnesses from base genetics and prediction of responses to a drug etc.
The implementation of precision or genomic medicine signifies “a revolution” that will change the care paradigm. It will make it possible to offer a real response to the individual health requirements of each patient by means of a profound knowledge of biology of the disease and the implementation of personalised health strategies.