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Advances in sequencing technologies over the last few decades have made it possible to identify individual genomes in ever shorter times, at ever lower costs. While twenty years ago, sequencing the first human genome took titanic efforts by the scientific community, nowadays thousands of genomes are sequenced daily. This progress provides the basis for personalised medicine, which will help doctors design the best treatment for each individual by correctly interpreting the information that characterises us as unique individuals: our genome.

Deciphering this language of life and integrating this information with patients’ clinical data are the next steps towards making precision medicine a reality in clinical practice. A team led by the Universitat Politècnica de València’s VRAIN Institute (Valencian Institute for Research in Artificial Intelligence) is now working to achieve this.

From its laboratories, the team is coordinating the development of a new tool that combines explainable artificial intelligence, conceptual modelling and machine learning to interpret genomic data from patients and thus facilitate the prevention, diagnosis and treatment of various pathologies.

It does so within the framework of the OGMIOS project, funded by the Valencian Innovation Agency. As the La Fe Health Research Institute (IIS La Fe), the INCLIVA Health Research Institute, the Alacant Institute for Health and Biomedical Research (ISABIAL) and the company Bionos Biotech also participate in OGMIOS, the project includes the three dimensions (clinical, scientific and industrial) required to address such a scientific challenge successfully.

Childhood cancer and cardiovascular diseases

The OGMIOS project currently focuses on the study of genetic predisposition to paediatric cancer and cardiovascular diseases, specifically familial heart disease with risk of sudden death. In this way, the OGMIOS platform will facilitate the integration and analysis of clinical and sequencing data obtained from different groups of patients affected by some of the phenotypes of childhood cancer and familial heart disease.

"Individual genetic predisposition to cancer, especially in childhood, can play an important role, as up to 10% of childhood cancers may have such an origin. Therefore, knowledge of genetic predisposition can lead to screening and early diagnosis, which will allow doctors to treat the disease at an early and localised stage. And OGMIOS will contribute to understanding this genetic predisposition," says Óscar Pastor, a researcher at the VRAIN Institute of the Universitat Politècnica de València and coordinator of this project.

As for familial heart disease, OMGIOS will help in the genetic characterisation of patients and their relatives in order to offer them personalised-medicine treatment and follow-up, which will improve their quality of life and reduce cases of sudden death.

"Even though the project focuses on these two pathologies, both the knowledge and the basic artificial intelligence infrastructure that it will generate can be adapted to the prevention, diagnosis and treatment of other diseases, whether metabolic, neurological, psychiatric or of other kinds", says Óscar Pastor.

The OMGIOS project started last April, and will run until December 2023.