Integration of clinical and genomic data to enhance precision medicine: a case of study applied to the retina-macula

摘要

Abstract Age-related macular degeneration is a complex, multifactorial, and neurodegenerative disease that is the third cause of blindness after cataracts and glaucoma. To date, there are no effective remedies available for treating the disease. Therefore, the main goal of the scientific community is to uncover the underlying role that both genetics and environmental factors play in the development of the disease. Nevertheless, the complexity of the domain, the heterogeneity of the information, and the massive amounts of existing data hinder the daily work of clinical experts to provide an accurate diagnosis and treatment. In this work, we present how clinicians can benefit from the development of ontologically well-grounded information systems to support the management of both clinical and genomic data. First, we summarize the results obtained in a previous work that cover the clinical perspective using an information system called G-MAC, that has been specially developed for the management of clinical data. Then, we present the results of an exhaustive study of the genetic factors of age-related macular degeneration by using an information system that was developed with the aim of enhancing the management of complex genomic data. Finally, we state how the connection of both perspectives through the use of conceptual models can benefit clinicians and patients through a more accurate Medicine of Precision.