Principles in genetic risk assessment
- PMID: 18360538
- PMCID: PMC1661604
- DOI: 10.2147/tcrm.1.1.15.53606
Principles in genetic risk assessment
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.
References
-
- Alhenc-Gelas M, Aiach M, de Moerloose P. Venous thromboembolic disease: risk factors and laboratory investigation. Semin Vasc Med. 2001;1:81–8. - PubMed
-
- Amos J, Grody W. Development and integration of molecular genetic tests into clinical practice: the US experience. Expert Rev Mol Diagn. 2004;4:465–77. - PubMed
-
- Bobadilla JL, Macek M, Jr, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations: correlation with incidence data and application to screening. Hum Mutat. 2002;19:575–606. - PubMed
-
- Bridge PJ. Baltimore: John Hopkins Univ Pr; 1997. The calculation of genetic risks: worked examples in DNA diagnostics.
-
- Castoldi E, Rosing J. Factor V Leiden: a disorder of factor V anticoagulant function. Curr Opin Hematol. 2004;11:176–81. - PubMed
LinkOut - more resources
Full Text Sources
