Centro de Investigação em Genética Molecular Humana, Secção Autónoma de Biotecnologia, Faculdade de Ciências e Tecnologia - Universidade Nova de Lisboa Caparica, Portugal.
Ther Clin Risk Manag. 2005 Mar;1(1):15-20. doi: 10.2147/tcrm.1.1.15.53606.
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.
风险评估是遗传咨询和检测的重要组成部分，为了个人和家庭决策，应尽可能准确地估计遗传风险。从群体研究、家系和遗传检测中获取的所有相关信息都可提高个体遗传风险评估的准确性。本综述将重点讨论风险评估中涉及的以下几个一般方面：疾病相关的遗传信息不断增加；复杂性状与孟德尔疾病；环境和疾病易感性的影响。将讨论这些因素对风险评估的影响。
