Genome-wide association studies: The good, the bad and the ugly

Abstract

Before 2007 the number of common genetic variants reproducibly associated with common diseases and traits was fewer than 20. There are now many hundreds of variants reliably associated with all types of diseases and traits, from male pattern baldness to height to common disease predisposition, including metabolic disease, autoimmune disease and germline predisposition to cancer. Despite this success at identifying variants, the GWAS findings are not generally clinically useful to individual patients. Instead they represent a first step towards improved understanding of disease aetiology. © Royal College of Physicians 2014. All rights reserved.