Genomic Information Systems Production – Deciphering the Life Language using the Information Systems Engineering

In a scientific context in which the study of problems associated with Data Science and the management of large volumes of data (Big Data) are in continuous expansion, how to deal effectively, efficiently and innovatively with the management, operation and maintenance of complex Information Systems (IS) is a problem of enormous interest.

If there is an exemplary domain to deal with these problems of management, exploitation and maintenance of voluminous, heterogeneous, complex data in its interpretation and in continuous expansion favored by technological advances, it is the design and development of Genomic Information Systems (GIS) that i) make possible the effective and efficient management of data associated with the human genome, ii) allow the challenge of making real progress in deciphering the language of life and iii) can support software platforms that materialize the knowledge developed in the field of advanced precision genomic medicine as an application domain of indisputable social relevance.
To achieve these objectives it is necessary to have a solid support in the domain of Information Systems Engineering and Conceptual Modeling. Our Research Center for Software Production Methods (PROS) has a wide experience in this domain, and the capacity to materialize the GISPRO project (Genomic Information Systems Production – Deciphering the Life Language using the Information Systems Engineering). GISPRO will feed from the results of other projects such as: ORCA (PROMETEO/2009/015) “ORiented Development Methods for IT CAlity”, IDEO (PROMETEOII/2014/ 039) “Innovative Services for Digital Enterprises with ORCA” and DataME (TIN2016-80811-P) “A Model Driven Software Production Method for the Development of Big Data Applications”. The main goal of the GISPRO project is to use technological advances as a source of innovation, to be exploited in an intelligent way to address ambitious societal challenges, namely: deciphering the language of life.

For more than two decades we have investigated, in a theoretical and practical way, the benefits that the use of the most advanced techniques in conceptual modeling bring to the correct development of Information Systems. During this time our results have covered, among others, the design of executable formal specification languages, automatic software production methods based on conceptual models, requirements and goals modeling techniques, business process modeling, several transformations between conceptual models to support MDA (“Model-driven Architecture”) architectures and several software platforms, always in model-driven development (MDD) environments. An extensive set of knowledge that we have used in various areas of practical application, especially oriented to the design and implementation of organizational systems. This application has always been carried out combining a robust theoretical perspective, from a methodological point of view, and a practical perspective that materializes the results with a vision of the final product.

Therefore, with the intention of going a step further in this scientific journey, the GISPRO project will focus on the design and development of Information Systems, from a production perspective according to Figure 1 (concepts that will be seen later in the objectives and work plan), for a particularly complex, attractive and relevant domain for society, both at regional and global level: the understanding of the genome, and the deciphering of the language of life that this understanding entails.

As a cross-cutting approach and in order to meet the demands of future health research in a rigorous manner, the project contemplates, from the beginning and in all its development phases, the incorporation of the gender perspective. This incorporation is necessary because in the field of health, the study of the gender dimension is being increasingly promoted, considering gender segregation and other social variables, as it has been proven that traditionally health research has not contemplated it with the required rigor, resulting in partial and stereotyped approaches, as well as gaps in knowledge that have been transferred to current health practice. This variable is a subject where much research remains to be done and which will be of great interest to society. Therefore, the project’s strategy is to provide capacity to genomic Information Systems to manage important gender variables such as (for example) sex (male and female), social class, age, ethnicity, for subsequent use in genetic/medical research.
From the methodological perspective of the project, if there is a paradigmatic example of a complex environment for data management, it is – as mentioned above – the genomic environment. There is also a particularly significant area of application, which is that of Precision Medicine (also known as Personalized Medicine), which aims to revolutionize the way of understanding and materializing the healthcare we are used to seeing. We consider this field of application to be particularly relevant for the development of the project from a strategic point of view, and therefore it will constitute the case study that will allow us to validate the correct transfer of the R&D results of the GISPRO project.