Individual Genomes on the Horizon

Abstract

Physicians have long recognized that pinpointing specific causes of disease in individual patients enables therapies that are the most likely to confer benefit with the fewest adverse effects. We also recognize the potential for disease prevention through identification of specific risk factors and mitigation of their effects. For a century, we have known that many of these risk factors are genetic. In the past 20 years, the genomic revolution has translated this knowledge into a new understanding of disease: mutations that cause more than 2000 mendelian diseases have been identified, which has led to the rewriting of textbooks of pathophysiology of every organ system and the identification of rational targets for therapeutic intervention. Genes also play a major role in risk for virtually every common disease, affording the possibility of identifying persons who have a specific inherited predisposition.