TY - CHAP M1 - Book, Section TI - Genetic Risk Profiling in the Genomics Era A1 - Philippakis, Anthony A. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Overview:The past 5 years have been a time of tremendous progress in our understanding of the genetic basis of polygenic traits, with over 1100 genomic loci having been associated with over 165 complex (ie, polygenic) traits. While this has led to huge advances in our understanding of the mechanisms of disease, the clinical application of this information to risk prediction has been more limited. The reasons for this are outlined here. Since a detailed discussion of genetic risk for every disease is beyond the scope of this chapter, we focus on a few illustrative examples.Genome-wide association studies (GWAS) have dramatically increased our understanding of the mechanisms of common human diseases.Applying these results to clinical medicine is difficult due to both incomplete heritability and an incomplete understanding of the genetic basis of human disease.Further studies are needed to better understand how genetically based risk prediction can be effectively applied to the management of human diseases. Studies are also needed that address the ethics of genetic disclosure and its psychologic effects on patients. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102707583 ER -