A “gene reading machine” has arrived at the CNIO, which will improve the prevention and personalized diagnosis of cancer

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The world’s most advanced DNA reading machine, a sequencer capable of reading tens of thousands of genomes per year, is now available for cancer research in National Cancer Research Center (CNIO)which will help improve personalized cancer prevention and diagnosis.

It is the most sophisticated genetic analysis tool available today and holds key potential for the development of personalized medicine.

It consists of NovaSeq-X Plus Sequencing Equipmentfrom an American company Illumina, capable of sequencing more than 20,000 genomes per year. With its help, CNIO teams will accelerate the search for cancer susceptibility genes and markers that allow early detection and determine the best therapy in each case. They will also study the genetic evolution of tumors cell by cell, which is important for combating treatment resistance.

With NovaSeq-X Plus, the cost of complete sequencing of the human genome can be reduced to several hundred euros.

“The CNIO’s scientific strategy aims to analyze large volumes of genomic data and artificial intelligence, with teams working in these areas and with machines like this one capable of sequencing tens of thousands of genomes per year at unimaginable speeds. it was worth just recently”declares CNIO Scientific Director Maria A. Blasco. “At CNIO we will make a significant contribution to the creation of much more personalized medicine”Add.

As he explains Director of the CNIO Biotechnology Program Fernando Pelaez, “What makes this equipment unique is that it allows you to read more genomes in less time, and it is significantly cheaper because the more reads you have, the more the cost goes down. It’s really impressive”

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From 100 million per genome to less than 1000

For all of the above, it is important to know as much as possible about the numerous variants of the human genome. This is an area in which progress has been made at a rapid pace since the turn of the century.

To sequence the human genome for the first time in 2003, hundreds of groups around the world collaborated for more than a decade. Since then, sequencing techniques have advanced as much as costs have decreased. In the early 2000s, genome sequencing cost 100 million; Ten years later it was around 10,000 euros. With NovaSeq-X Plus this amount can be reduced to several hundred euros.

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“This team will contribute to the research of many groups in the CNIO”Pelaez explains. “This is useful for human cancer genetics programs and clinical trials, where sequencing can guide therapeutic decisions. And, of course, in the most fundamental research, to understand the origin of diseases.”.