Genetics and algorithms, at the service of advanced diagnosis of diseases

Experts at the Spanish company Sistemas Genómicos are developing a test that can quickly and precisely analyse over 100,000 genetic mutations associated with diseases such as cancer, diabetes or cystic fibrosis

• This analysis panel named Exoma Screening shows possible links between the patient’s symptoms and certain genetic mutations taken from a small blood sample.




• This test being carried out forms part of an IT platform that is specialised in visualising data, GeneSystems, which provide a quick and understandable results report

Genetics keeps opening up new horizons in the advanced diagnosis of diseases, in this case, by combining the possibilities offered by big data. This combination of the exhaustive study of the human genome and bioinformatics is the base for Exoma Screening, a test developed by the Spanish company Sistemas Genómicos, which can analyse over 100,000 variants associated with diseases such as cancer, diabetes or cystic fibrosis, present in over 3,000 pre-selected genes. Another step towards quickly and simply analysing a wide range of pathologies that leave a trace on our DNA.

In this way, this potent mix of genetic analysis and the comparison of big data, which is carried out based on a small sample of the patient’s blood, allows us to associate the mutations detected in the patient’s genes with their visible symptoms, providing an advance report for the medical specialists to determine the final diagnosis. Furthermore, this test, carried out with medical guidance, is also very useful for people who have some medical suspicions. As such, a wide variety of diseases can be confirmed by comparing and filtering the genetic information in each case which will then been shown on a specialist IT platform, GeneSystems.

“Unlike other genetic tests, with Exoma for Screening we can carry out a very specific study, focussed on genetic variations associated with specific diseases”, explains Juan Carlos Triviño, head of bioinformatics at Sistemas Genómicos, and continues: “the reports created in this procedure that analyse a specific part of the human exome, help medical specialists to determine the diagnosis, providing them with a clear vision of the genetic characteristic of each patient and their possible link with the symptoms presented. Furthermore, to make it as easy as possible to visualise all of the information, we provide access to a tailor-made IT portal, GeneSystems. An easy-to-use interface for doctors which is updated from the data and experience obtained in an anonymous and authorised way with each case.”

GeneSystems: from the laboratory to the screen



Apart from the big data technology used to filter the information obtained, another achievement for this innovative genetic test is the simple visualisation on any computer or tablet screen. The software that converts this series of data into a preliminary diagnosis is called GeneSystems®, a platform created by the team at Sistemas Genómicos, which allows doctors to access analysis results in a simple way. What’s more, this initial report goes even further and is presented with links to all of the scientific papers published that it is connected too, offering a more complete perspective on each patient.


About Sistemas Genómicos



Sistemas Genómicos is the first and largest Spanish company to specialise in DNA and RNA sequencing with almost twenty years of experience in the field of molecular biology and genetics. With a long history of research and pioneering studies under its belt, the company is currently actively participating on various national and international R+D projects in order to put the latest advances in genetics to the service of society.



For further information



ATREVIA. David Sabater and Gloria Peris-Mencheta. Tel: 96 394 33 14



Email: dsabater@atrevia.com and gperismencheta@atrevia.com