The arrival of genomic medicine thanks to mass sequencing (NGS)

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Currently, the technology known as Next Generation Sequencing (NGS), is considered us to study our DNA from different strategies,diagnosis of human genetic diseases.It is worth it to highlight that since the development of the human genome project (Figure 1), in 20011,2 the cost of sequencing a genome has decreased from 100 million dollars, to about 1000 euros today, in terms of reagent costs.

Figure 1. Human Genome project publication in two of the most important journals (2001). Source: Science and Nature Journals.

Sequencing cost decreasement, computing capabilities increment and the unstoppable advance of scientific knowledge, have allowed the identification of hundreds of new genes associated with diseases, identifying biomarkers of risk of susceptibility to diseases or possible adverse effects to medications..

The benefits of Next Generation Sequencing (NGS)

NGS allows us to study our DNA from different strategies, from the least complex, in which we can study a panel of genes of interest,followed by the sequencing of the entire coding region of the genome6 (that which is formed by genes that encode all the proteins of our organism) known as WES, until the most complex, the complete sequencing of the 3,000 x 10^6 base pairs that make up our entire genome (Figure 2).

Figure 2. Genetic analysis strategies using NGS. From left to right from highest to lowest complexity: WGS, Whole Genome Sequencing or full genome sequencing; WES, Whole Exome Sequencing or full exome sequencing; and custom gene panels.

As a result of this technology development, the diagnostic performance has increased considerably in many diseases, such as intellectual disability, cardiovascular diseases, cancer, thanks to the identification of new genes, genomic regions and associated biomarkers. The recent challenge has been to translate all these findings and technological developments into clinical routine, in such a way that anyone can have access to genetic diagnostic tools, whenever they need them. 

At ADNTRO, we offer you the opportunity to study your complete genomeand thanks to our team of experts, in collaboration with our genomic medicine collaborators – BitGenetic - We can help you exploit your genome, offering you the possibility of carrying out a genetic diagnosis and that can positively impact your health. If you are interested, please contact us.

Source: 1 International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature Journals 409, 860-921 (2001). http://www.nature.com/articles/35057062 Venter JC, Adams MD, Myers EW, et al The sequence of the human genome. Science. 2001 Feb 16; 291 (5507): 1304-51. doi: 10.1126 / science.1058040. Erratum in: Science 2001 Jun 5; 292 (5523): 1838. PMID: 11181995.

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