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Genomewide Association Studies — Illuminating Biologic Pathways
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Journal Article
Genomewide Association Studies — Illuminating Biologic Pathways
2009
Overview
Skeptics have questioned the value of genomewide association studies. Dr. Joel Hirschhorn writes that the main goal of these studies is not prediction of individual risk but rather discovery of biologic pathways underlying polygenic diseases and traits.
Human geneticists seek to understand the inherited basis of human biology and disease, aiming either to gain insights that could eventually improve treatment or to produce useful diagnostic or predictive tests. As recently as 2004, few genetic variants were known to reproducibly influence common polygenic diseases (including cancer, coronary artery disease, and diabetes) or quantitative phenotypes (including lipid levels and blood pressure). This relative ignorance limited potential insights into the pathophysiology of common diseases.
The completion of the human genome sequence in 2005 and the provision of an initial catalogue of human genetic variation and a haplotype map (known as . . .
Publisher
Massachusetts Medical Society
