© JAROSLAW WOJCIK, ISTOCKPHOTO.COM/ERIN LEMIEUX
An important goal of personalized medicine is to be able to create individual lifetime health plans that are targeted to his or her unique genetic makeup. In recent years, technological advances have provided the tools to make wide-spread, affordable whole-genome sequencing possible—but in doing so have revealed just how unique those individual genomes can be. Two recent studies involving the deep sequencing of human exomes and drug target genes in more than 16,000 individuals, for example, clearly demonstrated that rare variants—those that occur in less than 0.5 percent of the population—are, as a group, quite abundant and have functional impact (Science, 337:64-69, 2012; 337:100-104, 2012). The studies showed that each person carries more than 10,000 variants—one in every 17 bases—of which at least 300 can ...
