NGS, or Next Generation Sequencing, is a set of methodologies that allow the parallel sequencing of many DNA fragments. This approach allows the detection of variations of different types in the human DNA sequence (point changes, deletions and insertions, and also structural variants or deletions or duplications that affect large regions of the genome). It also makes it possible to know which genes are expressed in a certain tissue or in response to a given condition, or to determine the bacterial population present in a certain environment, among many other applications.
Different strategies are used to determine the gene sequence in a patient with a suspected genetically based disease:
Gene panels: only groups of genes associated with specific pathologies are sequenced.
Exome: all coding regions of the genome are sequenced, which represent about 2% of the human genome, and contain most of the genetic variants known to potentially cause disease.
Genome: the sequence of the approximately three billion nucleotides that make up the human genome is determined.
Clinical applications of NGS
Genetic testing is a very useful diagnostic tool, and its results often have immediate implications for clinical decision-making to improve patient management.
The use of NGS makes it possible to detect disease-causing mutations present in the genome in a rapid manner. These mutations can be inherited from a parent or appear "de novo" in affected individuals.
Whole Exome Sequencing
Whole exome sequencing is a genomic method that involves sequencing the protein-coding regions of the genome. The human exome includes more than 20,000 genes, representing less than 2% of the genome but containing 85% of the genetic variants known to cause disease. This technique makes it possible to detect genetic variants in all genes, even if these variants have not previously been associated with any disease.
Personal Genomic Profile (PgenP)
General study of the complete "genetic constitution" of an individual. It allows a better understanding of the risk of suffering from genetically based diseases later in life or the risk of having children with rare diseases.
What is it?
Whole exome Personalised Genetic Profiling (PgenP) provides an extensive check of the complete "genetic make-up" of an individual.
The genetic information that makes us unique resides in the genome, which is the whole of an organism's hereditary material. Changes in the sequence of our genes can lead to diseases that affect the carrier or be passed on to offspring. Associations have been identified between mutated genes and more than 3000 genetic diseases including heart disease, neurological diseases, hereditary cancers and many other conditions.
The genomic method of sequencing the protein-coding regions of the genome is called exome sequencing. The human exome represents less than 2% of the genome but contains 85% of the genetic variants known to cause disease. Knowledge of these sequences helps the individual to better understand his or her risk of developing genetically based diseases later in life or the risk of having children with rare diseases.
Who is it aimed at?
This service provides information that may be relevant for family planning purposes, prevention of serious diseases or as an aid to early detection and diagnosis.
People with a family history of disease.
Couples considering having offspring.
In general, anyone who wishes to know their genetic risk profile for all types of hereditary pathologies.