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Revista Médica del Uruguay

versión On-line ISSN 1688-0390

Resumen

RAGGIO, Víctor  y  ROCHE, Leda. Perfil genómico de riesgo en la práctica clínica. Rev. Méd. Urug. [online]. 2009, vol.25, n.1, pp.45-58. ISSN 1688-0390.

Summary Over the last ten years knowledge on medical genetics and the ability to analyze the human genome have shown a steep block curve. This tendency is likely to continue in the coming years, and thus require the introduction of these tools in the every day medical practice. Today we witness the first serious attempts to apply human genomics to health care services. Knowledge on genetic bases, and interactions at molecular level leading to human diseases have huge potential for improving their diagnosis, prognosis, treatment and prevention; and it implies a challenge as to how to interpret this information and how to train medical doctors in their application. The present article comprises a study of the last progress made, and benefits and limitations of genomic analysis in clinical practice and its tools, and it also includes a sketch of tendencies and their extrapolation in the near future and, finally, the situation in our country is analyzed.

Palabras clave : BIOLOGÍA MOLECULAR; GENOMA HUMANO; GENÉTICA MEDICA; MOLECULAR BIOLOGY; GENOME, HUMAN; GENETICS, MEDICAL.

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