TY - JOUR
T1 - Developing and evaluating polygenic risk prediction models for stratified disease prevention
AU - Chatterjee, Nilanjan
AU - Shi, Jianxin
AU - García-Closas, Montserrat
N1 - Funding Information:
The research was supported by intramural funding from the National Cancer Institute, which is part of the US National Institutes of Health, and a Bloomberg Distinguished Professorship endowment from Johns Hopkins University.
Publisher Copyright:
© 2016 Macmillan Publishers Limited.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - Knowledge of genetics and its implications for human health is rapidly evolving in accordance with recent events, such as discoveries of large numbers of disease susceptibility loci from genome-wide association studies, the US Supreme Court ruling of the non-patentability of human genes, and the development of a regulatory framework for commercial genetic tests. In anticipation of the increasing relevance of genetic testing for the assessment of disease risks, this Review provides a summary of the methodologies used for building, evaluating and applying risk prediction models that include information from genetic testing and environmental risk factors. Potential applications of models for primary and secondary disease prevention are illustrated through several case studies, and future challenges and opportunities are discussed.
AB - Knowledge of genetics and its implications for human health is rapidly evolving in accordance with recent events, such as discoveries of large numbers of disease susceptibility loci from genome-wide association studies, the US Supreme Court ruling of the non-patentability of human genes, and the development of a regulatory framework for commercial genetic tests. In anticipation of the increasing relevance of genetic testing for the assessment of disease risks, this Review provides a summary of the methodologies used for building, evaluating and applying risk prediction models that include information from genetic testing and environmental risk factors. Potential applications of models for primary and secondary disease prevention are illustrated through several case studies, and future challenges and opportunities are discussed.
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U2 - 10.1038/nrg.2016.27
DO - 10.1038/nrg.2016.27
M3 - Review article
C2 - 27140283
AN - SCOPUS:84965076156
SN - 1471-0056
VL - 17
SP - 392
EP - 406
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 7
ER -