title: Genomic risk prediction of complex human disease and its clinical application.
abstract: Recent advances in genome-wide association studies have stimulated interest in the genomic prediction of disease risk, potentially enabling individual-level risk estimates for early intervention and improved diagnostic procedures. Here, we review recent findings and approaches to genomic prediction model construction and performance, then contrast the potential benefits of such models in two complex human diseases, aiding diagnosis in celiac disease and prospective risk prediction for cardiovascular disease. Early indications are that optimal application of genomic risk scores will differ substantially for each disease depending on underlying genetic architecture as well as current clinical and public health practice. As costs decline, genomic profiles become common, and popular understanding of risk and its communication improves, genomic risk will become increasingly useful for the individual and the clinician.
authors.affiliation: Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville 3010, Victoria, Australia.
authors.forename: Gad
authors.initials: G
authors.lastname: Abraham
authors.affiliation: Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville 3010, Victoria, Australia. Electronic address: minouye@unimelb.edu.au.
authors.forename: Michael
authors.initials: M
authors.lastname: Inouye
mesh_terms: D002318:Cardiovascular Diseases / Q000453:epidemiology / Q000235:genetics*; D002446:Celiac Disease / Q000453:epidemiology / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000473:pathology; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans; D012307:Risk Factors