Genetic Risk Prediction — Are We There Yet?

A major goal of the Human Genome Project was to facilitate the identification of inherited genetic variants that increase or decrease the risk of complex diseases. The completion of the International HapMap Project and the development of new methods for genotyping individual DNA samples at 500,000 or more loci have led to a wave of discoveries through genomewide association studies. These analyses have identified common genetic variants that are associated with the risk of more than 40 diseases and human phenotypes. Several companies have begun offering direct-to-consumer testing that uses the same single-nucleotide polymorphism chips that are used in genomewide . . .