ABSTRACT
We begin with a discussion of the potential of personalized (also known as precision) medicine. We segue into the success story of cystic fibrosis: finding the genetic variants responsible for it has helped to create drugs that greatly improve the life span and the quality of life for people with this disease. Personalized medicine requires the mapping of traits to genes and genetic variants, a process that involves the principles of evolutionary genetics. We discuss quantitative trait locus (QTL) mapping and genome-wide association studies (GWAS). The evolutionary genetic concept of linkage disequilibrium is central to GWAS. We discuss a few success stories of GWAS leading to better understanding of autoimmune and inflammatory diseases. A key finding that has important implications is that several genetic variants are protective of one disease but predispose toward other diseases. GWAS has also been useful in personalizing the proper dosage of drugs based on one’s genotypes. We discuss some of the privacy concerns and limitations of GWAS. One unfortunate limitation is that most GWAS investigations have been done in populations of Europeans or those of European descent; more diversity in these studies can lead to better science and potentially ameliorate heath disparities.
