The advances of recent decades in sequencing technologies (Next generation sequencing, NGS) offer us the possibility of knowing individual genomes with increasingly reduced times and costs. 20 years ago, it took titanic efforts from the scientific community to sequence the first human genome. Today, thousands of genomes are sequenced daily. Personalised medicine is based on this genomic knowledge of each patient in order to design the best treatment for each one. Integrating this information along with patients’ clinical data is undoubtedly the next step in establishing precision medicine as a reality in clinical practice. In this way, we can both anticipate the development of diseases and establish more effective therapies, by knowing in detail the genomic origin and the possibilities of response to drugs. All this will save costs in both diagnosis and treatments. Besides, it will undoubtedly have an impact on the quality of patients’ life.

The objective of this project is to carry out a proof of concept (PoC) of the Delfos platform (result of great impact within the framework of the DataME project) for its subsequent translation into daily clinical practice. This platform provides an Information System (IS) for the management of genomic variants. This solution is found in a TRL4 on which different laboratory experiments have been carried out at the academic level, and with this proposal it is intended to achieve a degree of maturity of TRL7 with its respective phases of development and validation with the support of clinical experts (teams in pediatric cancer and familial heart disease of the IIS-La Fe). To provide an original, relevant and valuable solution, the problems that characterize the genomic domain must be overcome: the lack of standards to represent data must be addressed by providing mechanisms that facilitate reliable and explainable integration; the heterogeneity and complexity of information must be identified, delimited and precisely addressed; Domain dynamics should always be considered; and the variable quality of the information generated must be properly managed. In this context, conceptual modelling (CM) techniques and model-driven development (MDD) approaches provide the right tools to achieve the goal of our proposal.

The Delfos platform aims to provide a global software solution in terms of a technological platform that brings together all genomic knowledge in a standardized and structured way, promoting interoperability between data sources, the exchange of new knowledge and helping clinical experts through a support mechanism that guarantees that the decisions made are based on updated knowledge and based on scientific evidence.