The personal and clinical utility of polygenic risk scores

• Published in: Nature reviews. Genetics Vol. 19; no. 9; pp. 581 - 590
• Main Authors: Torkamani, Ali, Wineinger, Nathan E, Topol, Eric J
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.09.2018
• Subjects: Criminal investigation; Deoxyribonucleic acid; Disease; Disease susceptibility; DNA; Genetic disorders; Genetic Predisposition to Disease; Genetic research; Genetic susceptibility; Genetic Testing - methods; Genetic variation; Genome-wide association studies; Genome-Wide Association Study; Genomes; Genomics; Humans; Medical genetics; Medical research; Multifactorial Inheritance; Pharmacogenomics; Precision medicine; Precision Medicine - methods; Risk Factors; Type 2 diabetes
• ISSN: 1471-0056; 1471-0064
• DOI: 10.1038/s41576-018-0018-x

Initial expectations for genome-wide association studies were high, as such studies promised to rapidly transform personalized medicine with individualized disease risk predictions, prevention strategies and treatments. Early findings, however, revealed a more complex genetic architecture than was anticipated for most common diseases - complexity that seemed to limit the immediate utility of these findings. As a result, the practice of utilizing the DNA of an individual to predict disease has been judged to provide little to no useful information. Nevertheless, recent efforts have begun to demonstrate the utility of polygenic risk profiling to identify groups of individuals who could benefit from the knowledge of their probabilistic susceptibility to disease. In this context, we review the evidence supporting the personal and clinical utility of polygenic risk profiling.