ACADEMIA

• In the few years spent in testing for just over a hundred genetic diseases, the current indications have detected over 5,000.
• In cooperation with Integromics, they are developing filters to quickly locate and confirm clinically relevant information with other applications.

More than 5,000 genetic diseases can be detected in the human genome analysis carried out by the Galician Public Foundation for Genomic Medicine, which is led by Professor Angel Carracedo of the University of Santiago de Compostela. The speed of the diagnostic process is due to the calculation ability of the Finis Terrae, the 'brain' of the Supercomputing Center of Galicia (CESGA).

"The future of genetic diagnosis is through the use of this technology," said Francisco Barros, Chief Laboratory of the Foundation. He recalls that in a few years spent in testing for just over a hundred genetic diseases to today in which you want to detect signs for over 5,000, although "there is no laboratory that can detect all for now."

Barros explained that before beginning the analysis of the most common diseases, about a hundred, but with these technical advancement means, "we are able to analyze about 85% of all 5,000 genes responsible for these genetic disorders due to next generation of sequencers."

The scientist considers it "a giant step, and in a few years, we will detect diseases associated with remaining 15% of the genes, because the third generation genome sequencers open the doors for all analysis to be done in a single process at a very competitive price." Thus, the problem of genetic diagnosis becomes the analysis of huge amounts of data, for which they have to locate the one that is the cause of the pathology of it "among the 40,000 variants of the genome that each individual carries, and navigating through all the scientific literature."

That, in a context where more and more genome sequences of more patients are analyzed and the continuously increasing demand for these tests by specialists, creates a big problem obtaining and managing information. How to overcome this challenge? Barros explained that "we have a project called the INNPACTO program, in cooperation with Integromics computer company, to develop a tool that filters information to rapidly locate the clinically relevant information and confirm it with applications, and the need to unify it."

This would complete the cycle that begins with the analysis of genome-sequencing standard-process and continues with processing information, which is used by the supercomputer 'Finis Terrae' and concludes with the location and final analysis of the information on diseases detected.