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Biomedical Informatics

When suggesting a definition for Biomedical Informatics (BMI), we could go back to the one in the White Paper developed in the context of BIOINFOMED: BMI is the emerging technology that aims to put together the worlds of Bioinformatics (BI) and Medical Informatics (MI) in order to facilitate the discovery and creation of novel diagnostic and therapeutic methods in the context of genomic medicine.However, a comprehensive definition of BMI should also include diverse aspects that clearly appear in relation with the role of informatics in the new scenario of genomic based medicine:
  • Disease is a continuous process and genetic and molecular data should not be treated independently from data concerning the clinical manifestation and clinical progression of the patients.
  • Relevant information about a disease goes through several levels related to the levels of organization in the human body (molecules, cells, tissues, organs, body, population)
  • BMI facilitates translational research allowing the translation of the discoveries coming from basic research into valid solutions for the clinical environment.
  • BMI represents a possible conducting thread that allows to interpret the connections between genotype and phenotype and the environmental factors that influence in this relation.
In the last years we have noticed how several names, often used in an interchangeable manner, have been used to name approaches to BMI. Terms such as clinical bioinformatics, clinical genomics and others often appear in literature and in the description of research projects. This short comment will use a figure to try to explain the meaning of these different terms and how BMI relates to each.

If we take into account two different criteria such as the type of data used, and the setting in which the techniques are applied we could see that:

Bioinformatics facilitates processing of genomic and proteomic data in a basic research oriented setting. Medical Informatics uses clinical data in a clinical and healthcare setting. The objective of Clinical Bioinformatics is to facilitate the introduction of genomic and proteomic data of the patients for its use in clinical practice (individualised medicine) while Informatics for Clinical Genomics tries to provide actual clinical data for genomic and proteomic research for the improvement of annotation and validation of the results and to get information about molecular causes of diseases (molecular medicine)

Examples of the last two areas mentioned would be:
  • Clinical Bioinformatics: The works of the HL7 group to model and structure patient genetic data in order to include it in the working model of the digital clinical record.
  • Informatics for clinical genomics: Retrieval of clinical data of patients with certain types of tumors from the hospital, anonymization of the information and integration with data from the molecular analysis of these tumors obtained by microarray techniques in which the profiles of differential genetic expression are identified.
We can conclude that BMI includes diverse aspects to facilitate the integration and combined analysis of all the data that are relevant for the study, prevention, diagnosis and treatment of complex diseases, providing tools that make possible an individualised medicine for each patient depending on the phenotypic signs and the genetic load and based in the profound knowledge of the molecular mechanisms that unchain diseases.

Definición Informática Biomédica
Fernando Martin-Sanchez, Isabel Hermosilla and Javier Vicente
Institute of Health Carlos III
May, 2005
Last update Oct. 2011.