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Front Genet. 2014 Jun 2;5:162. doi: 10.3389/fgene.2014.00162. eCollection 2014.

Genetic-based prediction of disease traits: prediction is very difficult, especially about the future.

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Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Department of Medicine, School of Medicine, University of Washington Seattle, WA, USA.
Departments of Human Genetics and Biostatistics, Graduate School of Public Health, University of Pittsburgh PA, USA.
Sigfried and Janet Weis Center for Research, Geisinger Health System Danville, PA, USA.
Subsidiary of Quest Diagnostics, Discovery Research, Celera Corporation Alameda, CA, USA.
Center for Human Genetics, Marshfield Clinic Research Foundation Marshfield, WI, USA ; Department of Biological Sciences, University of Pittsburgh Pittsburgh, PA, USA.
Biomedical Informatics Research Center, Marshfield Clinic Research Foundation Marshfield, WI, USA.
Department of Epidemiology and Biostatistics, Case Western Reserve School of Medicine Cleveland, OH, USA.


Translation of results from genetic findings to inform medical practice is a highly anticipated goal of human genetics. The aim of this paper is to review and discuss the role of genetics in medically-relevant prediction. Germline genetics presages disease onset and therefore can contribute prognostic signals that augment laboratory tests and clinical features. As such, the impact of genetic-based predictive models on clinical decisions and therapy choice could be profound. However, given that (i) medical traits result from a complex interplay between genetic and environmental factors, (ii) the underlying genetic architectures for susceptibility to common diseases are not well-understood, and (iii) replicable susceptibility alleles, in combination, account for only a moderate amount of disease heritability, there are substantial challenges to constructing and implementing genetic risk prediction models with high utility. In spite of these challenges, concerted progress has continued in this area with an ongoing accumulation of studies that identify disease predisposing genotypes. Several statistical approaches with the aim of predicting disease have been published. Here we summarize the current state of disease susceptibility mapping and pharmacogenetics efforts for risk prediction, describe methods used to construct and evaluate genetic-based predictive models, and discuss applications.


clinical utility; genetic risk; human genetics; predictive model; prognosis

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