title: Methods to Assess Genetic Risk Prediction.
abstract: It is recognized that traditional risk factors do not identify everyone who will develop cardiovascular disease. There is a growing interest in the discovery of novel biomarkers that will augment the predictive potential of traditional cardiovascular risk factors. The era of genome-wide association studies (GWAS) has resulted in the discovery of common genetic polymorphisms associated with a multitude of cardiovascular traits and raises the possibility that these variants can be used in clinical risk prediction. Assessing and evaluating the new genetic risk markers and quantification of the improvement in risk prediction models that incorporate this information is a major challenge. In this paper we discuss the key metrics that are used to assess prediction models-discrimination, calibration, reclassification, and demonstration on how to calculate and interpret these metrics.
authors.affiliation: BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK.
authors.forename: Christin
authors.initials: C
authors.lastname: Schulz
authors.affiliation: BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, 126 University Place, Glasgow, G12 8TA, UK. sandosh.padmanabhan@glasgow.ac.uk.
authors.forename: Sandosh
authors.initials: S
authors.lastname: Padmanabhan
mesh_terms: D000818:Animals; D015415:Biomarkers; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D015415:Biomarkers
keywords: AUC; Genetic risk score; Genome-wide association; Prediction; ROC; Reclassification