Principles in genetic risk assessment || FREE PAPER ||

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Author: Pedro Viana Baptista

Published Date January 2005 Volume 2005:1(1) Pages 15 - 20

DOI: http://dx.doi.org/10.2147/TCRM.S

Pedro Viana Baptista

Centro de Investigação em Genética, Molecular Humana, Secção Autónoma de Biotecnologia, Faculdade de Ciências e Tecnologia – Universidade Nova de Lisboa, Caparica, Portugal

Abstract: Risk assessment constitutes an essential component of genetic counseling and testing, and the genetic risk should be estimated as accurately as possible for individual and family decision making. All relevant information retrieved from population studies and pedigree and genetic testing enhances the accuracy of the assessment of an individual’s genetic risk. This review will focus on the following general aspects implicated in risk assessment: the increasing genetic information regarding disease; complex traits versus Mendelian disorders; and the influence of the environment and disease susceptibility. The influence of these factors on risk assessment will be discussed.

Keywords: genetics, risk assessment, genetic testing, genetic risk, genetic susceptibility