Bioinformatics: Towards New Directions for Public Health^[*]

 

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Summary

Objectives: Epidemiologists are reformulating their classical approaches to diseases by considering various issues associated to “omics” areas and technologies. Traditional differences between epidemiology and genetics include background, training, terminologies, study designs and others. Public health and epidemiology are increasingly looking forward to using methodologies and informatics tools, facilitated by the Bioinformatics community, for managing genomic information. Our aim is to describe which are the most important implications related with the increasing use of genomic information for public health practice, research and education. To review the contribution of bioinformatics to these issues, in terms of providing the methods and tools needed for processing genetic information from pathogens and patients. To analyze the research challenges in biomedical informatics related with the need of integration of clinical, environmental and genetic data and the new scenarios arisen in public health.

Methods: Review of the literature, Internet resources and material and reports generated by internal and external research projects.

Results: New developments are needed to advance in the study of the interactions between environmental agents and genetic factors involved in the development of diseases. The use of biomarkers, biobanks, and integrated genomic/clinical databases poses serious challenges for informaticians in order to extract useful information and knowledge for public health, biomedical research and healthcare.

Conclusions: From an informatics perspective, integrated medical/biological ontologies and new semantic-based models for managing information provide new challenges for research in areas such as genetic epidemiology and the “omics” disciplines, among others. In this regard, there are various ethical, privacy, informed consent and social implications, that should be carefully addressed by researchers, practitioners and policy makers.

^* This paper is based on our invited review paper that appeared in: Haux R, Kulikowski E (eds.). IMIA Yearbook of Medical Informatics 2004: Towards Clinical Informatics. Stuttgart: Schattauer 2004; pp. 137-43.

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