Post genomic era: the neeo for genetic llteracy

Rodrigues, Carina

http://hdl.handle.net/10198/13592

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Authors

Rodrigues, Carina

Abstract(s)

More than ten years after Human Genome Project’s conclusion we find several changes in life sciences and diseases, in the research methods, and in disciplinary structures. New gene discoveries came with the promise that these information would help to improve health and prevent disease: a era of genomic and personalized medicine. The Human Genome Project has allowed the development of many innovative platforms to study the information flow at molecular level. As consequence, new areas emerged such as genomics, transcriptomics, proteomics, metabolomics and epigenomics and there is a possibility of using “omics” knowledge and techniques to select new biomarkers (gene variants, epigenetic changes or expression patterns). Biomarkers can be used for disease diagnosis, prognosis, prediction of therapeutic responses applied in the field of cancer and chronic diseases and will be followed by requirement of validation and reproducibility studies to allow their application into clinical practice. Developments in genetics and genomics created a need for education of health professionals, authorities and general population. The majority of practicing professionals may not have been taught genomics during their academic degree. In this context, a gap in knowledge has been described across the board among health professionals, including medical undergraduates, general practitioners and nurses (non-genetics specialists). The EuroGentest project and European Society of Human Genetics Education Committee has defined a core competences in genetics used as a basis for health professional education. The need to follow a common minimum standard of competence in genetics and genomics for health professionals in Europe is real and we must be aware of that.